Canonical Allele Identifier: CA1442721
Gene: ACTA1 HGNC NCBI

Linked Data

dbSNP Id: rs759952719
ExAC: 1:229567394 A / C
gnomAD v2: 1-229567394-A-C
gnomAD v4: 1-229431647-A-C
MyVariant Identifiers: chr1:g.229567394A>C (hg19) chr1:g.229431647A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229431647A>C , CM000663.2:g.229431647A>C GRCh38
NC_000001.10:g.229567394A>C , CM000663.1:g.229567394A>C GRCh37
NC_000001.9:g.227634017A>C NCBI36
NG_006672.1:g.7450T>G , LRG_429:g.7450T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.990+74T>G ENSP00000355644.4:n.990+74T>G
ENST00000684723.1:c.856-5T>G ENSP00000508084.1:n.856-5T>G
ENST00000366683.3:c.622-5T>G ENSP00000355644.3:n.622-5T>G
ENST00000366684.7:c.991-5T>G MANE Select ENSP00000355645.3:n.991-5T>G
NM_001100.3:c.991-5T>G , LRG_429t1:c.991-5T>G NP_001091.1:n.991-5T>G
NM_001100.4:c.991-5T>G MANE Select NP_001091.1:n.991-5T>G
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