Canonical Allele Identifier: CA128031
Gene: ACTA1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 18287
ClinVar RCV Id: RCV000019949
dbSNP Id: rs121909527

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229433109C>A , CM000663.2:g.229433109C>A GRCh38
NC_000001.9:g.227635479C>A NCBI36
NC_000001.10:g.229568856C>A , CM000663.1:g.229568856C>A GRCh37
NG_006672.1:g.5988G>T , LRG_429:g.5988G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000366683.3:c.7G>T ENSP00000355644.3:p.Asp3Tyr
ENST00000366684.7:c.7G>T ENSP00000355645.3:p.Asp3Tyr
NM_001100.3:c.7G>T , LRG_429t1:c.7G>T NP_001091.1:p.Asp3Tyr