Canonical Allele Identifier: CA258136
Gene: ACTA1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 18283
ClinVar RCV Id: RCV000019945
dbSNP Id: rs121909523

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229432020T>A , CM000663.2:g.229432020T>A GRCh38
NC_000001.10:g.229567767T>A , CM000663.1:g.229567767T>A GRCh37
NC_000001.9:g.227634390T>A NCBI36
NG_006672.1:g.7077A>T , LRG_429:g.7077A>T

Transcript Alleles

HGVS Amino-acid change
NM_001100.3:c.782A>T , LRG_429t1:c.782A>T NP_001091.1:p.Glu261Val
ENST00000366683.3:c.480-158A>T ENSP00000355644.3:p.=
ENST00000366684.7:c.782A>T ENSP00000355645.3:p.Glu261Val