Canonical Allele Identifier: CA1013144978
Gene: ACTA1 HGNC NCBI

Linked Data

dbSNP Id: rs1659921565
gnomAD v3: 1-229431075-A-C
gnomAD v4: 1-229431075-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229431075A>C , CM000663.2:g.229431075A>C GRCh38
NC_000001.10:g.229566822A>C , CM000663.1:g.229566822A>C GRCh37
NC_000001.9:g.227633445A>C NCBI36
NG_006672.1:g.8022T>G , LRG_429:g.8022T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000684723.1:c.*424T>G ENSP00000508084.1:n.*424T>G
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