ENST00000513398.2 ACTN3

Information
Transcript ID
ENST00000513398.2
Genome
hg19
Position
chr11:66,314,374-66,330,805
Strand
+
CDS length
2,706
Amino acid length
902
Gene symbol
ACTN3
Gene type
protein-coding
Gene description
actinin alpha 3
Gene Entrez Gene ID
89
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 :
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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 :
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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
1 66,314,374 66,314,555
2 66,318,710 66,318,824
3 66,318,999 66,319,118
4 66,321,516 66,321,602
5 66,322,007 66,322,094
6 66,322,601 66,322,679
7 66,322,757 66,322,838
8 66,323,616 66,323,701
9 66,324,604 66,324,696
10 66,325,170 66,325,400
11 66,325,498 66,325,645
12 66,326,707 66,326,857
13 66,327,439 66,327,547
14 66,327,642 66,327,782
15 66,328,044 66,328,226
16 66,328,698 66,328,832
17 66,328,929 66,329,108
18 66,329,493 66,329,639
19 66,329,728 66,329,793
20 66,330,267 66,330,425
21 66,330,506 66,330,805
CDS
Exon number Type Start Stop
1 CDS 66,314,409 66,314,555
2 CDS 66,318,710 66,318,824
3 CDS 66,318,999 66,319,118
4 CDS 66,321,516 66,321,602
5 CDS 66,322,007 66,322,094
6 CDS 66,322,601 66,322,679
7 CDS 66,322,757 66,322,838
8 CDS 66,323,616 66,323,701
9 CDS 66,324,604 66,324,696
10 CDS 66,325,170 66,325,400
11 CDS 66,325,498 66,325,645
12 CDS 66,326,707 66,326,857
13 CDS 66,327,439 66,327,547
14 CDS 66,327,642 66,327,782
15 CDS 66,328,044 66,328,226
16 CDS 66,328,698 66,328,832
17 CDS 66,328,929 66,329,108
18 CDS 66,329,493 66,329,639
19 CDS 66,329,728 66,329,793
20 CDS 66,330,267 66,330,425
21 CDS 66,330,506 66,330,664
Other genome
Genome Chromosome Start End Links
hg38 chr11 66,546,903 66,563,334 Link
CDS sequence
ATGATGATGGTTATGCAGCCCGAGGGTCTGGGGGCCGGGGAGGGGCGCTTTGCGGGCGGCGGCGGGGGCGGCGAGTACATGGAACAGGAGGAGGACTGGGACCGCGACCTGCTGCTGGACCCGGCCTGGGAGAAGCAGCAGCGGAAAACCTTCACTGCCTGGTGCAACTCACACCTGCGCAAGGCAGGCACCCAGATCGAGAACATCGAGGAAGATTTCCGCAATGGCCTCAAACTCATGCTGCTCCTGGAGGTCATTTCAGGTGAGAGGCTGCCTAGGCCAGATAAAGGCAAGATGCGCTTCCACAAAATCGCCAACGTTAACAAGGCCCTGGACTTCATTGCCAGCAAGGGGGTTAAACTGGTGTCCATTGGTGCTGAAGAGATTGTTGACGGGAACCTGAAGATGACCCTGGGCATGATCTGGACCATCATCCTTCGCTTCGCCATCCAGGACATCTCTGTGGAAGAAACCTCAGCCAAGGAAGGCTTGCTTCTGTGGTGCCAGAGGAAGACAGCACCGTACCGCAACGTCAACGTGCAGAACTTCCACACCAGCTGGAAGGATGGCCTGGCCCTCTGTGCCCTCATCCACCGACACCGCCCTGACCTCATCGACTACGCCAAACTGCGAAAGGATGACCCCATCGGAAACCTGAACACTGCCTTTGAGGTGGCAGAGAAATACCTGGACATCCCCAAGATGTTGGATGCAGAAGACATTGTGAACACCCCAAAGCCGGATGAGAAGGCCATCATGACCTATGTGTCCTGCTTCTACCATGCCTTTGCCGGGGCTGAGCAGGCAGAGACAGCTGCCAACAGGATCTGCAAGGTGCTGGCAGTGAACCAGGAAAACGAGAAGCTGATGGAGGAGTATGAGAAGCTTGCCAGTGAGCTGCTGGAGTGGATCCGCCGCACTGTCCCATGGCTGGAGAACCGTGTGGGTGAGCCCAGCATGAGTGCCATGCAGCGCAAACTAGAGGACTTTCGGGACTACCGGCGTCTGCACAAGCCGCCCCGCATTCAGGAAAAGTGCCAGCTGGAGATCAACTTCAACACACTGCAGACCAAGTTGCGGCTCAGCCACCGGCCTGCCTTCATGCCCTCCGAGGGCAAGCTGGTCTCGGACATCGCCAACGCCTGGCGGGGGCTGGAGCAGGTGGAAAAGGGCTATGAGGACTGGCTGCTCTCGGAGATCCGGCGCCTGCAGCGACTCCAGCACCTGGCTGAGAAGTTCCGGCAGAAGGCCTCCCTGCACGAAGCCTGGACCCGGGGAAAGGAGGAGATGCTGAGCCAGCGCGACTACGATTCGGCTTTGCTACAGGAGGTGCGGGCGTTGCTGCGGCGCCACGAGGCCTTTGAGAGCGACCTGGCGGCGCACCAGGACCGCGTGGAGCACATTGCCGCGCTGGCCCAGGAGCTCAATGAGCTGGACTACCACGAGGCAGCCTCAGTGAATAGCCGCTGCCAGGCCATCTGCGATCAGTGGGACAACCTGGGCACCCTGACCCAGAAGAGGCGGGATGCGCTAGAGCGGATGGAGAAGCTCCTGGAGACCATTGACCGGCTGCAACTGGAGTTTGCCCGGCGGGCCGCGCCCTTCAACAACTGGCTGGATGGTGCCGTGGAGGACCTGCAGGACGTGTGGCTGGTACACTCTGTGGAGGAGACCCAGAGCCTGCTGACAGCGCACGATCAGTTCAAGGCAACACTGCCCGAGGCTGACTGAGAGCGAGGTGCCATCATGGGCATCCAGGGTGAGATCCAGAAGATCTGCCAGACGTATGGGCTGCGGCCCTGCTCCACCAATCCCTACATCACCCTCAGCCCGCAGGACATCAACACCAAGTGGGATATGGTCCGAAAGCTGGTGCCCAGCTGTGACCAGACACTGCAGGAGGAGCTGGCACGGCAGCAGGTAAACGAGAGGCTCCGGCGACAGTTTGCGGCCCAGGCCAATGCCATTGGACCCTGGATCCAGGCGAAGGTGGAGGAAGTGGGGCGGCTGGCAGCAGGGCTAGCTGGCTCTCTGGAGGAGCAGATGGCTGGGCTACGGCAGCAGGAGCAGAACATTATCAACTACAAGACTAACATTGACCGGCTGGAGGGTGACCACCAGCTGCTGCAGGAGAGCCTGGTGTTCGACAATAAGCACACCGTCTACAGCATGGAGCACATCCGCGTGGGCTGGGAGCAGCTGCTCACCTCCATTGCCCGCACCATCAATGAAGTGGAGAACCAGGTACTGACCCGAGACGCCAAGGGACTGAGCCAGGAGCAGCTCAACGAGTTCCGAGCATCCTTCAACCACTTTGACAGGAAGCAGAATGGGATGATGGAGCCTGATGACTTCCGAGCTTGCCTCATCTCCATGGGCTATGACCTGGGGGAAGTGGAGTTTGCTCGCATCATGACCATGGTGGACCCCAACGCAGCTGGGGTGGTGACCTTCCAGGCCTTCATAGACTTCATGACCCGAGAGACAGCCGAGACTGACACGACTGAGCAAGTTGTAGCTTCCTTCAAGATCTTGGCAGGAGACAAGAACTACATCACCCCCGAGGAGCTGCGGCGCGAGCTCCCTGCCAAGCAGGCCGAGTACTGCATCCGCCGTATGGTGCCCTACAAGGGATCCGGGGCCCCGGCTGGAGCCCTGGACTACGTGGCCTTCTCCAGTGCCCTCTATGGGGAGAGCGACCTTTGA
Amino sequence
MMMVMQPEGLGAGEGRFAGGGGGGEYMEQEEDWDRDLLLDPAWEKQQRKTFTAWCNSHLRKAGTQIENIEEDFRNGLKLMLLLEVISGERLPRPDKGKMRFHKIANVNKALDFIASKGVKLVSIGAEEIVDGNLKMTLGMIWTIILRFAIQDISVEETSAKEGLLLWCQRKTAPYRNVNVQNFHTSWKDGLALCALIHRHRPDLIDYAKLRKDDPIGNLNTAFEVAEKYLDIPKMLDAEDIVNTPKPDEKAIMTYVSCFYHAFAGAEQAETAANRICKVLAVNQENEKLMEEYEKLASELLEWIRRTVPWLENRVGEPSMSAMQRKLEDFRDYRRLHKPPRIQEKCQLEINFNTLQTKLRLSHRPAFMPSEGKLVSDIANAWRGLEQVEKGYEDWLLSEIRRLQRLQHLAEKFRQKASLHEAWTRGKEEMLSQRDYDSALLQEVRALLRRHEAFESDLAAHQDRVEHIAALAQELNELDYHEAASVNSRCQAICDQWDNLGTLTQKRRDALERMEKLLETIDRLQLEFARRAAPFNNWLDGAVEDLQDVWLVHSVEETQSLLTAHDQFKATLPEAD*ERGAIMGIQGEIQKICQTYGLRPCSTNPYITLSPQDINTKWDMVRKLVPSCDQTLQEELARQQVNERLRRQFAAQANAIGPWIQAKVEEVGRLAAGLAGSLEEQMAGLRQQEQNIINYKTNIDRLEGDHQLLQESLVFDNKHTVYSMEHIRVGWEQLLTSIARTINEVENQVLTRDAKGLSQEQLNEFRASFNHFDRKQNGMMEPDDFRACLISMGYDLGEVEFARIMTMVDPNAAGVVTFQAFIDFMTRETAETDTTEQVVASFKILAGDKNYITPEELRRELPAKQAEYCIRRMVPYKGSGAPAGALDYVAFSSALYGESDL*