Canonical Allele Identifier: CA341499
Gene: ACTA1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 18291
ClinVar RCV Id: RCV000019953
dbSNP Id: rs121909531

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229431633G>A , CM000663.2:g.229431633G>A GRCh38
NC_000001.10:g.229567380G>A , CM000663.1:g.229567380G>A GRCh37
NC_000001.9:g.227634003G>A NCBI36
NG_006672.1:g.7464C>T , LRG_429:g.7464C>T

Transcript Alleles

HGVS Amino-acid change
NM_001100.3:c.1000C>T , LRG_429t1:c.1000C>T NP_001091.1:p.Pro334Ser
ENST00000366683.3:c.631C>T ENSP00000355644.3:p.Pro211Ser
ENST00000366684.7:c.1000C>T ENSP00000355645.3:p.Pro334Ser