Canonical Allele Identifier: CA1226125362
Gene: ACTA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229431510T= , CM000663.2:g.229431510T= GRCh38
NC_000001.10:g.229567257T= , CM000663.1:g.229567257T= GRCh37
NC_000001.9:g.227633880T= NCBI36
NG_006672.1:g.7587A= , LRG_429:g.7587A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.1045A= ENSP00000355644.4:p.Lys349=
ENST00000684723.1:c.988A= ENSP00000508084.1:p.Lys330=
ENST00000366683.3:c.754A= ENSP00000355644.3:p.Lys252=
ENST00000366684.7:c.1123A= MANE Select ENSP00000355645.3:p.Lys375=
NM_001100.3:c.1123A= , LRG_429t1:c.1123A= NP_001091.1:p.Lys375=
NM_001100.4:c.1123A= MANE Select NP_001091.1:p.Lys375=