ENST00000392676.8 ABCA5

Information
Transcript ID
ENST00000392676.8
Genome
hg19
Position
chr17:67,240,452-67,323,274
Strand
-
CDS length
4,929
Amino acid length
1,643
Gene symbol
ABCA5
Gene type
protein-coding
Gene description
ATP binding cassette subfamily A member 5
Gene Entrez Gene ID
23461
Variants

Display target variant


Search Word
Target data :
MGeND data only
Category :
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Variant name Gene AA change CDS Japanese
frequency		 TogoVar MGeND Genome ClinVar CIViC evidence DisGeNET entry COSMIC
occurrence		 Prediction
Entry Origin Type Annotation Entry Origin Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Size Chromosome Start Stop Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Gene symbol Chromosome Genomic start Genomic stop Strand Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
Exon
Exon number Start Stop
39 67,240,452 67,243,785
38 67,244,403 67,244,458
37 67,246,046 67,246,125
36 67,246,613 67,246,762
35 67,247,888 67,248,007
34 67,249,714 67,249,808
33 67,249,935 67,250,010
32 67,250,456 67,250,631
31 67,251,684 67,251,775
30 67,251,874 67,251,991
29 67,252,298 67,252,424
28 67,255,847 67,255,938
27 67,256,479 67,256,553
26 67,257,266 67,257,400
25 67,257,776 67,257,889
24 67,260,876 67,261,046
23 67,264,084 67,264,197
22 67,266,754 67,266,891
21 67,267,303 67,267,430
20 67,270,100 67,270,269
19 67,273,782 67,273,983
18 67,280,094 67,280,213
17 67,282,039 67,282,178
16 67,282,362 67,282,452
15 67,283,754 67,283,892
14 67,285,318 67,285,437
13 67,286,003 67,286,178
12 67,287,357 67,287,467
11 67,290,796 67,290,854
10 67,293,332 67,293,500
9 67,297,280 67,297,427
8 67,298,859 67,299,047
7 67,300,810 67,300,951
6 67,302,866 67,303,095
5 67,304,421 67,304,509
4 67,305,403 67,305,564
3 67,309,233 67,309,437
2 67,310,455 67,310,571
1 67,323,193 67,323,274
CDS
Exon number Type Start Stop
39 CDS 67,243,678 67,243,785
38 CDS 67,244,403 67,244,458
37 CDS 67,246,046 67,246,125
36 CDS 67,246,613 67,246,762
35 CDS 67,247,888 67,248,007
34 CDS 67,249,714 67,249,808
33 CDS 67,249,935 67,250,010
32 CDS 67,250,456 67,250,631
31 CDS 67,251,684 67,251,775
30 CDS 67,251,874 67,251,991
29 CDS 67,252,298 67,252,424
28 CDS 67,255,847 67,255,938
27 CDS 67,256,479 67,256,553
26 CDS 67,257,266 67,257,400
25 CDS 67,257,776 67,257,889
24 CDS 67,260,876 67,261,046
23 CDS 67,264,084 67,264,197
22 CDS 67,266,754 67,266,891
21 CDS 67,267,303 67,267,430
20 CDS 67,270,100 67,270,269
19 CDS 67,273,782 67,273,983
18 CDS 67,280,094 67,280,213
17 CDS 67,282,039 67,282,178
16 CDS 67,282,362 67,282,452
15 CDS 67,283,754 67,283,892
14 CDS 67,285,318 67,285,437
13 CDS 67,286,003 67,286,178
12 CDS 67,287,357 67,287,467
11 CDS 67,290,796 67,290,854
10 CDS 67,293,332 67,293,500
9 CDS 67,297,280 67,297,427
8 CDS 67,298,859 67,299,047
7 CDS 67,300,810 67,300,951
6 CDS 67,302,866 67,303,095
5 CDS 67,304,421 67,304,509
4 CDS 67,305,403 67,305,564
3 CDS 67,309,233 67,309,437
2 CDS 67,310,455 67,310,556
Other genome
Genome Chromosome Start End Links
hg38 chr17 69,244,311 69,327,133 Link
CDS sequence
ATGTCCACTGCAATTAGGGAGGTAGGAGTTTGGAGACAGACCAGAACACTTCTACTGAAGAATTACTTAATTAAATGCAGAACCAAAAAGAGTAGTGTTCAGGAAATTCTTTTTCCACTATTTTTTTTATTTTGGTTAATATTAATTAGCATGATGCATCCAAATAAGAAATATGAAGAAGTGCCTAATATAGAACTCAATCCTATGGACAAGTTTACTCTTTCTAATCTAATTCTTGGATATACTCCAGTGACTAATATTACAAGCAGCATCATGCAGAAAGTGTCTACTGATCATCTACCTGATGTCATAATTACTGAAGAATATACAAATGAAAAAGAAATGTTAACATCCAGTCTCTCTAAGCCGAGCAACTTTGTAGGTGTGGTTTTCAAAGACTCCATGTCCTATGAACTTCGTTTTTTTCCTGATATGATTCCAGTATCTTCTATTTATATGGATTCAAGAGCTGGCTGTTCAAAATCATGTGAGGCTGCTCAGTACTGGTCCTCAGGTTTCACAGTTTTACAAGCATCCATAGATGCTGCCATTATACAGTTGAAGACCAATGTTTCTCTTTGGAAGGAGCTGGAGTCAACTAAAGCTGTTATTATGGGAGAAACTGCTGTTGTAGAAATAGATACCTTTCCCCGAGGAGTAATTTTAATATACCTAGTTATAGCATTTTCACCTTTTGGATACTTTTTGGCAATTCATATCGTAGCAGAAAAAGAAAAAAAAATAAAAGAATTTTTAAAGATAATGGGACTTCATGATACTGCCTTTTGGCTTTCCTGGGTTCTTCTATATACAAGTTTAATTTTTCTTATGTCCCTTCTTATGGCAGTCATTGCGACAGCTTCTTTGTTATTTCCTCAAAGTAGCAGCATTGTGATATTTCTGCTTTTTTTCCTTTATGGATTATCATCTGTATTTTTTGCTTTAATGCTGACACCTCTTTTTAAAAAATCAAAACATGTGGGAATAGTTGAATTTTTTGTTACTGTGGCTTTTGGATTTATTGGCCTTATGATAATCCTCATAGAAAGTTTTCCCAAATCGTTAGTGTGGCTTTTCAGTCCTTTCTGTCACTGTACTTTTGTGATTGGTATTGCACAGGTCATGCATTTAGAAGATTTTAATGAAGGTGCTTCATTTTCAAATTTGACTGCAGGCCCATATCCTCTAATTATTACAATTATCATGCTCACACTTAATAGTATATTCTATGTCCTCTTGGCTGTCTATCTTGATCAAGTCATTCCAGGGGAATTTGGCTTACGGAGATCATCTTTATATTTTCTGAAGCCTTCATATTGGTCAAAGAGCAAAAGAAATTATGAGGAGTTATCAGAGGGCAATGTTAATGGAAATATTAGTTTTAGTGAAATTATTGAGCCAGTTTCTTCAGAATTTGTAGGAAAAGAAGCCATAAGAATTAGTGGTATTCAGAAGACATACAGAAAGAAGGGTGAAAATGTGGAGGCTTTGAGAAATTTGTCATTTGACATATATGAGGGTCAGATTACTGCCTTACTTGGCCACAGTGGAACAGGAAAGAGTACATTGATGAATATTCTTTGTGGACTCTGCCCACCTTCTGATGGGTTTGCATCTATATATGGACACAGAGTCTCAGAAATAGATGAAATGTTTGAAGCAAGAAAAATGATTGGCATTTGTCCACAGTTAGATATACACTTTGATGTTTTGACAGTAGAAGAAAATTTATCAATTTTGGCTTCAATCAAAGGGATACCAGCCAACAATATAATACAAGAAGTGCAGAAGGTTTTACTAGATTTAGACATGCAGACTATCAAAGATAACCAAGCTAAAAAATTAAGTGGTGGTCAAAAAAGAAAGCTGTCATTAGGAATTGCTGTTCTTGGGAACCCAAAGATACTGCTGCTAGATGAACCAACAGCTGGAATGGACCCCTGTTCTCGACATATTGTATGGAATCTTTTAAAATACAGAAAAGCCAATCGGGTGACAGTGTTCAGTACTCATTTCATGGATGAAGCTGACATTCTTGCAGATAGGAAAGCTGTGATATCACAAGGAATGCTGAAATGTGTTGGTTCTTCAATGTTCCTCAAAAGTAAATGGGGGATCGGCTACCGCCTGAGCATGTACATAGACAAATATTGTGCCACAGAATCTCTTTCTTCACTGGTTAAACAACATATACCTGGAGCTACTTTATTACAACAGAATGACCAACAACTTGTGTATAGCTTGCCTTTCAAGGACATGGACAAATTTTCAGGTTTGTTTTCTGCCCTAGACAGTCATTCAAATTTGGGTGTCATTTCTTATGGTGTTTCCATGACGACTTTGGAAGACGTATTTTTAAAGCTAGAAGTTGAAGCAGAAATTGACCAAGCAGATTATAGTGTATTTACTCAGCAGCCACTGGAGGAAGAAATGGATTCAAAATCTTTTGATGAAATGGAACAGAGCTTACTTATTCTTTCTGAAACCAAGGCTGCTCTAGTGAGCACCATGAGCCTTTGGAAACAACAGATGTATACAATAGCAAAGTTTCATTTCTTTACCTTGAAACGTGAAAGTAAATCAGTGAGATCAGTGTTGCTTCTGCTTTTAATTTTTTTCACAGTTCAGATTTTTATGTTTTTGGTTCATCACTCTTTTAAAAATGCTGTGGTTCCCATCAAACTTGTTCCAGACTTATATTTTCTAAAACCTGGAGACAAACCACATAAATACAAAACAAGTCTGCTTCTTCAAAATTCTGCTGACTCAGATATCAGTGATCTTATTAGCTTTTTCACAAGCCAGAACATAATGGTGACGATGATTAATGACAGTGACTATGTATCCGTGGCTCCCCATAGTGCGGCTTTAAATGTGATGCATTCAGAAAAGGACTATGTTTTTGCAGCTGTTTTCAACAGTACTATGGTTTATTCTTTACCTATATTAGTGAATATCATTAGTAACTACTATCTTTATCATTTAAATGTGACTGAAACCATCCAGATCTGGAGTACCCCATTCTTTCAAGAAATTACTGATATAGTTTTTAAAATTGAGCTGTATTTTCAAGCAGCTTTGCTTGGAATCATTGTTACTGCAATGCCACCTTACTTTGCCATGGAAAATGCAGAGAATCATAAGATCAAAGCTTATACTCAACTTAAACTTTCAGGTCTTTTGCCATCTGCATATTGGATTGGACAAGCTGTTGTTGATATCCCCTTATTTTTTATCATTCTTATTTTGATGCTAGGAAGCTTATTGGCATTTCATTATGGATTATATTTTTATACTGTAAAGTTCCTTGCTGTGGTTTTTTGCCTTATTGGTTATGTTCCATCAGTTATTCTGTTCACTTATATTGCTTCTTTCACCTTTAAGAAAATTTTAAATACCAAAGAATTTTGGTCATTTATCTATTCTGTGGCAGCGTTGGCTTGTATTGCAATCACTGAAATAACTTTCTTTATGGGATACACAATTGCAACTATTCTTCATTATGCCTTTTGTATCATCATTCCAATCTATCCACTTCTAGGTTGCCTGATTTCTTTCATAAAGATTTCTTGGAAGAATGTACGAAAAAATGTGGACACCTATAATCCATGGGATAGGCTTTCAGTAGCTGTTATATCGCCTTACCTGCAGTGTGTACTGTGGATTTTCCTCTTACAATACTATGAGAAAAAATATGGAGGCAGATCAATAAGAAAAGATCCCTTTTTCAGAAACCTTTCAACGAAGTCTAAAAATAGGAAGCTTCCAGAACCACCAGACAATGAGGATGAAGATGAAGATGTCAAAGCTGAAAGACTAAAGGTCAAAGAGCTGATGGGTTGCCAGTGTTGTGAGGAGAAACCATCCATTATGGTCAGCAATTTGCATAAAGAATATGATGACAAGAAAGATTTTCTTCTTTCAAGAAAAGTAAAGAAAGTGGCAACTAAATACATCTCTTTCTGTGTGAAAAAAGGAGAGATCTTAGGACTATTGGGTCCAAATGGTGCTGGCAAAAGCACAATTATTAATATTCTGGTTGGTGATATTGAACCAACTTCAGGCCAGGTATTTTTAGGAGATTATTCTTCAGAGACAAGTGAAGATGATGATTCACTGAAGTGTATGGGTTACTGTCCTCAGATAAACCCTTTGTGGCCAGATACTACATTGCAGGAACATTTTGAAATTTATGGAGCTGTCAAAGGAATGAGTGCAAGTGACATGAAAGAAGTCATAAGTCGAATAACACATGCACTTGATTTAAAAGAACATCTTCAGAAGACTGTAAAGAAACTACCTGCAGGAATCAAACGAAAGTTGTGTTTTGCTCTAAGTATGCTAGGGAATCCTCAGATTACTTTGCTAGATGAACCATCTACAGGTATGGATCCCAAAGCCAAACAGCACATGTGGCGAGCAATTCGAACTGCATTTAAAAACAGAAAGCGGGCTGCTATTCTGACCACTCACTATATGGAGGAGGCAGAGGCTGTCTGTGATCGAGTAGCTATCATGGTGTCTGGGCAGTTAAGATGTATCGGAACAGTACAACATCTAAAGAGTAAATTTGGAAAAGGCTACTTTTTGGAAATTAAATTGAAGGACTGGATAGAAAACCTAGAAGTAGACCGCCTTCAAAGAGAAATTCAGTATATTTTCCCAAATGCAAGCCGTCAGGAAAGTTTTTCTTCTATTTTGGCTTATAAAATTCCTAAGGAAGATGTTCAGTCCCTTTCACAATCTTTTTTTAAGCTGGAAGAAGCTAAACATGCTTTTGCCATTGAAGAATATAGCTTTTCTCAAGCAACATTGGAACAGGTTTTTGTAGAACTCACTAAAGAACAAGAGGAGGAAGATAATAGTTGTGGAACTTTAAACAGCACACTTTGGTGGGAACGAACACAAGAAGATAGAGTAGTATTTTGA
Amino sequence
MSTAIREVGVWRQTRTLLLKNYLIKCRTKKSSVQEILFPLFFLFWLILISMMHPNKKYEEVPNIELNPMDKFTLSNLILGYTPVTNITSSIMQKVSTDHLPDVIITEEYTNEKEMLTSSLSKPSNFVGVVFKDSMSYELRFFPDMIPVSSIYMDSRAGCSKSCEAAQYWSSGFTVLQASIDAAIIQLKTNVSLWKELESTKAVIMGETAVVEIDTFPRGVILIYLVIAFSPFGYFLAIHIVAEKEKKIKEFLKIMGLHDTAFWLSWVLLYTSLIFLMSLLMAVIATASLLFPQSSSIVIFLLFFLYGLSSVFFALMLTPLFKKSKHVGIVEFFVTVAFGFIGLMIILIESFPKSLVWLFSPFCHCTFVIGIAQVMHLEDFNEGASFSNLTAGPYPLIITIIMLTLNSIFYVLLAVYLDQVIPGEFGLRRSSLYFLKPSYWSKSKRNYEELSEGNVNGNISFSEIIEPVSSEFVGKEAIRISGIQKTYRKKGENVEALRNLSFDIYEGQITALLGHSGTGKSTLMNILCGLCPPSDGFASIYGHRVSEIDEMFEARKMIGICPQLDIHFDVLTVEENLSILASIKGIPANNIIQEVQKVLLDLDMQTIKDNQAKKLSGGQKRKLSLGIAVLGNPKILLLDEPTAGMDPCSRHIVWNLLKYRKANRVTVFSTHFMDEADILADRKAVISQGMLKCVGSSMFLKSKWGIGYRLSMYIDKYCATESLSSLVKQHIPGATLLQQNDQQLVYSLPFKDMDKFSGLFSALDSHSNLGVISYGVSMTTLEDVFLKLEVEAEIDQADYSVFTQQPLEEEMDSKSFDEMEQSLLILSETKAALVSTMSLWKQQMYTIAKFHFFTLKRESKSVRSVLLLLLIFFTVQIFMFLVHHSFKNAVVPIKLVPDLYFLKPGDKPHKYKTSLLLQNSADSDISDLISFFTSQNIMVTMINDSDYVSVAPHSAALNVMHSEKDYVFAAVFNSTMVYSLPILVNIISNYYLYHLNVTETIQIWSTPFFQEITDIVFKIELYFQAALLGIIVTAMPPYFAMENAENHKIKAYTQLKLSGLLPSAYWIGQAVVDIPLFFIILILMLGSLLAFHYGLYFYTVKFLAVVFCLIGYVPSVILFTYIASFTFKKILNTKEFWSFIYSVAALACIAITEITFFMGYTIATILHYAFCIIIPIYPLLGCLISFIKISWKNVRKNVDTYNPWDRLSVAVISPYLQCVLWIFLLQYYEKKYGGRSIRKDPFFRNLSTKSKNRKLPEPPDNEDEDEDVKAERLKVKELMGCQCCEEKPSIMVSNLHKEYDDKKDFLLSRKVKKVATKYISFCVKKGEILGLLGPNGAGKSTIINILVGDIEPTSGQVFLGDYSSETSEDDDSLKCMGYCPQINPLWPDTTLQEHFEIYGAVKGMSASDMKEVISRITHALDLKEHLQKTVKKLPAGIKRKLCFALSMLGNPQITLLDEPSTGMDPKAKQHMWRAIRTAFKNRKRAAILTTHYMEEAEAVCDRVAIMVSGQLRCIGTVQHLKSKFGKGYFLEIKLKDWIENLEVDRLQREIQYIFPNASRQESFSSILAYKIPKEDVQSLSQSFFKLEEAKHAFAIEEYSFSQATLEQVFVELTKEQEEEDNSCGTLNSTLWWERTQEDRVVF*