ENST00000392676.8 ABCA5

Information
Transcript ID
ENST00000392676.8
Genome
hg38
Position
chr17:69,244,311-69,327,133
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
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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 69,244,311 69,247,644
38 69,248,262 69,248,317
37 69,249,905 69,249,984
36 69,250,472 69,250,621
35 69,251,747 69,251,866
34 69,253,573 69,253,667
33 69,253,794 69,253,869
32 69,254,315 69,254,490
31 69,255,543 69,255,634
30 69,255,733 69,255,850
29 69,256,157 69,256,283
28 69,259,706 69,259,797
27 69,260,338 69,260,412
26 69,261,125 69,261,259
25 69,261,635 69,261,748
24 69,264,735 69,264,905
23 69,267,943 69,268,056
22 69,270,613 69,270,750
21 69,271,162 69,271,289
20 69,273,959 69,274,128
19 69,277,641 69,277,842
18 69,283,953 69,284,072
17 69,285,898 69,286,037
16 69,286,221 69,286,311
15 69,287,613 69,287,751
14 69,289,177 69,289,296
13 69,289,862 69,290,037
12 69,291,216 69,291,326
11 69,294,655 69,294,713
10 69,297,191 69,297,359
9 69,301,139 69,301,286
8 69,302,718 69,302,906
7 69,304,669 69,304,810
6 69,306,725 69,306,954
5 69,308,280 69,308,368
4 69,309,262 69,309,423
3 69,313,092 69,313,296
2 69,314,314 69,314,430
1 69,327,052 69,327,133
CDS
Exon number Type Start Stop
39 CDS 69,247,537 69,247,644
38 CDS 69,248,262 69,248,317
37 CDS 69,249,905 69,249,984
36 CDS 69,250,472 69,250,621
35 CDS 69,251,747 69,251,866
34 CDS 69,253,573 69,253,667
33 CDS 69,253,794 69,253,869
32 CDS 69,254,315 69,254,490
31 CDS 69,255,543 69,255,634
30 CDS 69,255,733 69,255,850
29 CDS 69,256,157 69,256,283
28 CDS 69,259,706 69,259,797
27 CDS 69,260,338 69,260,412
26 CDS 69,261,125 69,261,259
25 CDS 69,261,635 69,261,748
24 CDS 69,264,735 69,264,905
23 CDS 69,267,943 69,268,056
22 CDS 69,270,613 69,270,750
21 CDS 69,271,162 69,271,289
20 CDS 69,273,959 69,274,128
19 CDS 69,277,641 69,277,842
18 CDS 69,283,953 69,284,072
17 CDS 69,285,898 69,286,037
16 CDS 69,286,221 69,286,311
15 CDS 69,287,613 69,287,751
14 CDS 69,289,177 69,289,296
13 CDS 69,289,862 69,290,037
12 CDS 69,291,216 69,291,326
11 CDS 69,294,655 69,294,713
10 CDS 69,297,191 69,297,359
9 CDS 69,301,139 69,301,286
8 CDS 69,302,718 69,302,906
7 CDS 69,304,669 69,304,810
6 CDS 69,306,725 69,306,954
5 CDS 69,308,280 69,308,368
4 CDS 69,309,262 69,309,423
3 CDS 69,313,092 69,313,296
2 CDS 69,314,314 69,314,415
Other genome
Genome Chromosome Start End Links
hg19 chr17 67,240,452 67,323,274 Link
CDS sequence
ATGTCCACTGCAATTAGGGAGGTAGGAGTTTGGAGACAGACCAGAACACTTCTACTGAAGAATTACTTAATTAAATGCAGAACCAAAAAGAGTAGTGTTCAGGAAATTCTTTTTCCACTATTTTTTTTATTTTGGTTAATATTAATTAGCATGATGCATCCAAATAAGAAATATGAAGAAGTGCCTAATATAGAACTCAATCCTATGGACAAGTTTACTCTTTCTAATCTAATTCTTGGATATACTCCAGTGACTAATATTACAAGCAGCATCATGCAGAAAGTGTCTACTGATCATCTACCTGATGTCATAATTACTGAAGAATATACAAATGAAAAAGAAATGTTAACATCCAGTCTCTCTAAGCCGAGCAACTTTGTAGGTGTGGTTTTCAAAGACTCCATGTCCTATGAACTTCGTTTTTTTCCTGATATGATTCCAGTATCTTCTATTTATATGGATTCAAGAGCTGGCTGTTCAAAATCATGTGAGGCTGCTCAGTACTGGTCCTCAGGTTTCACAGTTTTACAAGCATCCATAGATGCTGCCATTATACAGTTGAAGACCAATGTTTCTCTTTGGAAGGAGCTGGAGTCAACTAAAGCTGTTATTATGGGAGAAACTGCTGTTGTAGAAATAGATACCTTTCCCCGAGGAGTAATTTTAATATACCTAGTTATAGCATTTTCACCTTTTGGATACTTTTTGGCAATTCATATCGTAGCAGAAAAAGAAAAAAAAATAAAAGAATTTTTAAAGATAATGGGACTTCATGATACTGCCTTTTGGCTTTCCTGGGTTCTTCTATATACAAGTTTAATTTTTCTTATGTCCCTTCTTATGGCAGTCATTGCGACAGCTTCTTTGTTATTTCCTCAAAGTAGCAGCATTGTGATATTTCTGCTTTTTTTCCTTTATGGATTATCATCTGTATTTTTTGCTTTAATGCTGACACCTCTTTTTAAAAAATCAAAACATGTGGGAATAGTTGAATTTTTTGTTACTGTGGCTTTTGGATTTATTGGCCTTATGATAATCCTCATAGAAAGTTTTCCCAAATCGTTAGTGTGGCTTTTCAGTCCTTTCTGTCACTGTACTTTTGTGATTGGTATTGCACAGGTCATGCATTTAGAAGATTTTAATGAAGGTGCTTCATTTTCAAATTTGACTGCAGGCCCATATCCTCTAATTATTACAATTATCATGCTCACACTTAATAGTATATTCTATGTCCTCTTGGCTGTCTATCTTGATCAAGTCATTCCAGGGGAATTTGGCTTACGGAGATCATCTTTATATTTTCTGAAGCCTTCATATTGGTCAAAGAGCAAAAGAAATTATGAGGAGTTATCAGAGGGCAATGTTAATGGAAATATTAGTTTTAGTGAAATTATTGAGCCAGTTTCTTCAGAATTTGTAGGAAAAGAAGCCATAAGAATTAGTGGTATTCAGAAGACATACAGAAAGAAGGGTGAAAATGTGGAGGCTTTGAGAAATTTGTCATTTGACATATATGAGGGTCAGATTACTGCCTTACTTGGCCACAGTGGAACAGGAAAGAGTACATTGATGAATATTCTTTGTGGACTCTGCCCACCTTCTGATGGGTTTGCATCTATATATGGACACAGAGTCTCAGAAATAGATGAAATGTTTGAAGCAAGAAAAATGATTGGCATTTGTCCACAGTTAGATATACACTTTGATGTTTTGACAGTAGAAGAAAATTTATCAATTTTGGCTTCAATCAAAGGGATACCAGCCAACAATATAATACAAGAAGTGCAGAAGGTTTTACTAGATTTAGACATGCAGACTATCAAAGATAACCAAGCTAAAAAATTAAGTGGTGGTCAAAAAAGAAAGCTGTCATTAGGAATTGCTGTTCTTGGGAACCCAAAGATACTGCTGCTAGATGAACCAACAGCTGGAATGGACCCCTGTTCTCGACATATTGTATGGAATCTTTTAAAATACAGAAAAGCCAATCGGGTGACAGTGTTCAGTACTCATTTCATGGATGAAGCTGACATTCTTGCAGATAGGAAAGCTGTGATATCACAAGGAATGCTGAAATGTGTTGGTTCTTCAATGTTCCTCAAAAGTAAATGGGGGATCGGCTACCGCCTGAGCATGTACATAGACAAATATTGTGCCACAGAATCTCTTTCTTCACTGGTTAAACAACATATACCTGGAGCTACTTTATTACAACAGAATGACCAACAACTTGTGTATAGCTTGCCTTTCAAGGACATGGACAAATTTTCAGGTTTGTTTTCTGCCCTAGACAGTCATTCAAATTTGGGTGTCATTTCTTATGGTGTTTCCATGACGACTTTGGAAGACGTATTTTTAAAGCTAGAAGTTGAAGCAGAAATTGACCAAGCAGATTATAGTGTATTTACTCAGCAGCCACTGGAGGAAGAAATGGATTCAAAATCTTTTGATGAAATGGAACAGAGCTTACTTATTCTTTCTGAAACCAAGGCTGCTCTAGTGAGCACCATGAGCCTTTGGAAACAACAGATGTATACAATAGCAAAGTTTCATTTCTTTACCTTGAAACGTGAAAGTAAATCAGTGAGATCAGTGTTGCTTCTGCTTTTAATTTTTTTCACAGTTCAGATTTTTATGTTTTTGGTTCATCACTCTTTTAAAAATGCTGTGGTTCCCATCAAACTTGTTCCAGACTTATATTTTCTAAAACCTGGAGACAAACCACATAAATACAAAACAAGTCTGCTTCTTCAAAATTCTGCTGACTCAGATATCAGTGATCTTATTAGCTTTTTCACAAGCCAGAACATAATGGTGACGATGATTAATGACAGTGACTATGTATCCGTGGCTCCCCATAGTGCGGCTTTAAATGTGATGCATTCAGAAAAGGACTATGTTTTTGCAGCTGTTTTCAACAGTACTATGGTTTATTCTTTACCTATATTAGTGAATATCATTAGTAACTACTATCTTTATCATTTAAATGTGACTGAAACCATCCAGATCTGGAGTACCCCATTCTTTCAAGAAATTACTGATATAGTTTTTAAAATTGAGCTGTATTTTCAAGCAGCTTTGCTTGGAATCATTGTTACTGCAATGCCACCTTACTTTGCCATGGAAAATGCAGAGAATCATAAGATCAAAGCTTATACTCAACTTAAACTTTCAGGTCTTTTGCCATCTGCATATTGGATTGGACAAGCTGTTGTTGATATCCCCTTATTTTTTATCATTCTTATTTTGATGCTAGGAAGCTTATTGGCATTTCATTATGGATTATATTTTTATACTGTAAAGTTCCTTGCTGTGGTTTTTTGCCTTATTGGTTATGTTCCATCAGTTATTCTGTTCACTTATATTGCTTCTTTCACCTTTAAGAAAATTTTAAATACCAAAGAATTTTGGTCATTTATCTATTCTGTGGCAGCGTTGGCTTGTATTGCAATCACTGAAATAACTTTCTTTATGGGATACACAATTGCAACTATTCTTCATTATGCCTTTTGTATCATCATTCCAATCTATCCACTTCTAGGTTGCCTGATTTCTTTCATAAAGATTTCTTGGAAGAATGTACGAAAAAATGTGGACACCTATAATCCATGGGATAGGCTTTCAGTAGCTGTTATATCGCCTTACCTGCAGTGTGTACTGTGGATTTTCCTCTTACAATACTATGAGAAAAAATATGGAGGCAGATCAATAAGAAAAGATCCCTTTTTCAGAAACCTTTCAACGAAGTCTAAAAATAGGAAGCTTCCAGAACCACCAGACAATGAGGATGAAGATGAAGATGTCAAAGCTGAAAGACTAAAGGTCAAAGAGCTGATGGGTTGCCAGTGTTGTGAGGAGAAACCATCCATTATGGTCAGCAATTTGCATAAAGAATATGATGACAAGAAAGATTTTCTTCTTTCAAGAAAAGTAAAGAAAGTGGCAACTAAATACATCTCTTTCTGTGTGAAAAAAGGAGAGATCTTAGGACTATTGGGTCCAAATGGTGCTGGCAAAAGCACAATTATTAATATTCTGGTTGGTGATATTGAACCAACTTCAGGCCAGGTATTTTTAGGAGATTATTCTTCAGAGACAAGTGAAGATGATGATTCACTGAAGTGTATGGGTTACTGTCCTCAGATAAACCCTTTGTGGCCAGATACTACATTGCAGGAACATTTTGAAATTTATGGAGCTGTCAAAGGAATGAGTGCAAGTGACATGAAAGAAGTCATAAGTCGAATAACACATGCACTTGATTTAAAAGAACATCTTCAGAAGACTGTAAAGAAACTACCTGCAGGAATCAAACGAAAGTTGTGTTTTGCTCTAAGTATGCTAGGGAATCCTCAGATTACTTTGCTAGATGAACCATCTACAGGTATGGATCCCAAAGCCAAACAGCACATGTGGCGAGCAATTCGAACTGCATTTAAAAACAGAAAGCGGGCTGCTATTCTGACCACTCACTATATGGAGGAGGCAGAGGCTGTCTGTGATCGAGTAGCTATCATGGTGTCTGGGCAGTTAAGATGTATCGGAACAGTACAACATCTAAAGAGTAAATTTGGAAAAGGCTACTTTTTGGAAATTAAATTGAAGGACTGGATAGAAAACCTAGAAGTAGACCGCCTTCAAAGAGAAATTCAGTATATTTTCCCAAATGCAAGCCGTCAGGAAAGTTTTTCTTCTATTTTGGCTTATAAAATTCCTAAGGAAGATGTTCAGTCCCTTTCACAATCTTTTTTTAAGCTGGAAGAAGCTAAACATGCTTTTGCCATTGAAGAATATAGCTTTTCTCAAGCAACATTGGAACAGGTTTTTGTAGAACTCACTAAAGAACAAGAGGAGGAAGATAATAGTTGTGGAACTTTAAACAGCACACTTTGGTGGGAACGAACACAAGAAGATAGAGTAGTATTTTGA
Amino sequence
MSTAIREVGVWRQTRTLLLKNYLIKCRTKKSSVQEILFPLFFLFWLILISMMHPNKKYEEVPNIELNPMDKFTLSNLILGYTPVTNITSSIMQKVSTDHLPDVIITEEYTNEKEMLTSSLSKPSNFVGVVFKDSMSYELRFFPDMIPVSSIYMDSRAGCSKSCEAAQYWSSGFTVLQASIDAAIIQLKTNVSLWKELESTKAVIMGETAVVEIDTFPRGVILIYLVIAFSPFGYFLAIHIVAEKEKKIKEFLKIMGLHDTAFWLSWVLLYTSLIFLMSLLMAVIATASLLFPQSSSIVIFLLFFLYGLSSVFFALMLTPLFKKSKHVGIVEFFVTVAFGFIGLMIILIESFPKSLVWLFSPFCHCTFVIGIAQVMHLEDFNEGASFSNLTAGPYPLIITIIMLTLNSIFYVLLAVYLDQVIPGEFGLRRSSLYFLKPSYWSKSKRNYEELSEGNVNGNISFSEIIEPVSSEFVGKEAIRISGIQKTYRKKGENVEALRNLSFDIYEGQITALLGHSGTGKSTLMNILCGLCPPSDGFASIYGHRVSEIDEMFEARKMIGICPQLDIHFDVLTVEENLSILASIKGIPANNIIQEVQKVLLDLDMQTIKDNQAKKLSGGQKRKLSLGIAVLGNPKILLLDEPTAGMDPCSRHIVWNLLKYRKANRVTVFSTHFMDEADILADRKAVISQGMLKCVGSSMFLKSKWGIGYRLSMYIDKYCATESLSSLVKQHIPGATLLQQNDQQLVYSLPFKDMDKFSGLFSALDSHSNLGVISYGVSMTTLEDVFLKLEVEAEIDQADYSVFTQQPLEEEMDSKSFDEMEQSLLILSETKAALVSTMSLWKQQMYTIAKFHFFTLKRESKSVRSVLLLLLIFFTVQIFMFLVHHSFKNAVVPIKLVPDLYFLKPGDKPHKYKTSLLLQNSADSDISDLISFFTSQNIMVTMINDSDYVSVAPHSAALNVMHSEKDYVFAAVFNSTMVYSLPILVNIISNYYLYHLNVTETIQIWSTPFFQEITDIVFKIELYFQAALLGIIVTAMPPYFAMENAENHKIKAYTQLKLSGLLPSAYWIGQAVVDIPLFFIILILMLGSLLAFHYGLYFYTVKFLAVVFCLIGYVPSVILFTYIASFTFKKILNTKEFWSFIYSVAALACIAITEITFFMGYTIATILHYAFCIIIPIYPLLGCLISFIKISWKNVRKNVDTYNPWDRLSVAVISPYLQCVLWIFLLQYYEKKYGGRSIRKDPFFRNLSTKSKNRKLPEPPDNEDEDEDVKAERLKVKELMGCQCCEEKPSIMVSNLHKEYDDKKDFLLSRKVKKVATKYISFCVKKGEILGLLGPNGAGKSTIINILVGDIEPTSGQVFLGDYSSETSEDDDSLKCMGYCPQINPLWPDTTLQEHFEIYGAVKGMSASDMKEVISRITHALDLKEHLQKTVKKLPAGIKRKLCFALSMLGNPQITLLDEPSTGMDPKAKQHMWRAIRTAFKNRKRAAILTTHYMEEAEAVCDRVAIMVSGQLRCIGTVQHLKSKFGKGYFLEIKLKDWIENLEVDRLQREIQYIFPNASRQESFSSILAYKIPKEDVQSLSQSFFKLEEAKHAFAIEEYSFSQATLEQVFVELTKEQEEEDNSCGTLNSTLWWERTQEDRVVF*