Canonical Allele Identifier: CA345148264
Gene: ACTA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229432326A>T , CM000663.2:g.229432326A>T GRCh38
NC_000001.10:g.229568073A>T , CM000663.1:g.229568073A>T GRCh37
NC_000001.9:g.227634696A>T NCBI36
NG_006672.1:g.6771T>A , LRG_429:g.6771T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.560T>A ENSP00000355644.4:p.Leu187His
ENST00000684723.1:c.425T>A ENSP00000508084.1:p.Leu142His
ENST00000366683.3:c.479+81T>A ENSP00000355644.3:n.479+81T>A
ENST00000366684.7:c.560T>A MANE Select ENSP00000355645.3:p.Leu187His
NM_001100.3:c.560T>A , LRG_429t1:c.560T>A NP_001091.1:p.Leu187His
NM_001100.4:c.560T>A MANE Select NP_001091.1:p.Leu187His