Canonical Allele Identifier: CA529656399

Gene: ACTA1

Linked Data

• dbSNP Id: rs1377939355
• gnomAD v2: 1-229566964-C-A
• gnomAD v3: 1-229431217-C-A
• gnomAD v4: 1-229431217-C-A
• MyVariant Identifiers: chr1:g.229566964C>A (hg19) ; chr1:g.229431217C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.229431217C>A , CM000663.2:g.229431217C>A	GRCh38
NC_000001.10:g.229566964C>A , CM000663.1:g.229566964C>A	GRCh37
NC_000001.9:g.227633587C>A	NCBI36
NG_006672.1:g.7880G>T , LRG_429:g.7880G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684723.1:c.*282G>T	ENSP00000508084.1:n.*282G>T