Canonical Allele Identifier: CA2650926312

Gene: ACTA1

Linked Data

• gnomAD v4: 1-229431116-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.229431116A>G , CM000663.2:g.229431116A>G	GRCh38
NC_000001.10:g.229566863A>G , CM000663.1:g.229566863A>G	GRCh37
NC_000001.9:g.227633486A>G	NCBI36
NG_006672.1:g.7981T>C , LRG_429:g.7981T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684723.1:c.*383T>C	ENSP00000508084.1:n.*383T>C