Canonical Allele Identifier: CA345148440
Gene: ACTA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229432360C>T , CM000663.2:g.229432360C>T GRCh38
NC_000001.10:g.229568107C>T , CM000663.1:g.229568107C>T GRCh37
NC_000001.9:g.227634730C>T NCBI36
NG_006672.1:g.6737G>A , LRG_429:g.6737G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000366683.4:c.526G>A ENSP00000355644.4:p.Ala176Thr
ENST00000684723.1:c.391G>A ENSP00000508084.1:p.Ala131Thr
ENST00000366683.3:c.479+47G>A ENSP00000355644.3:p.=
ENST00000366684.7:c.526G>A MANE Select ENSP00000355645.3:p.Ala176Thr
NM_001100.3:c.526G>A , LRG_429t1:c.526G>A NP_001091.1:p.Ala176Thr
NM_001100.4:c.526G>A MANE Select NP_001091.1:p.Ala176Thr