Canonical Allele Identifier: CA1226125360
Gene: ACTA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229431505G= , CM000663.2:g.229431505G= GRCh38
NC_000001.10:g.229567252G= , CM000663.1:g.229567252G= GRCh37
NC_000001.9:g.227633875G= NCBI36
NG_006672.1:g.7592C= , LRG_429:g.7592C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.1050C= ENSP00000355644.4:p.Cys350=
ENST00000684723.1:c.993C= ENSP00000508084.1:p.Cys331=
ENST00000366683.3:c.759C= ENSP00000355644.3:p.Cys253=
ENST00000366684.7:c.1128C= MANE Select ENSP00000355645.3:p.Cys376=
NM_001100.3:c.1128C= , LRG_429t1:c.1128C= NP_001091.1:p.Cys376=
NM_001100.4:c.1128C= MANE Select NP_001091.1:p.Cys376=