Canonical Allele Identifier: CA1226125137
Gene: ACTA1 HGNC NCBI

Linked Data

dbSNP Id: rs1571891869
gnomAD v4: 1-229431108-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229431108A>G , CM000663.2:g.229431108A>G GRCh38
NC_000001.10:g.229566855A>G , CM000663.1:g.229566855A>G GRCh37
NC_000001.9:g.227633478A>G NCBI36
NG_006672.1:g.7989T>C , LRG_429:g.7989T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000684723.1:c.*391T>C ENSP00000508084.1:n.*391T>C
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