Canonical Allele Identifier: CA1226125359
Gene: ACTA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229431503A= , CM000663.2:g.229431503A= GRCh38
NC_000001.10:g.229567250A= , CM000663.1:g.229567250A= GRCh37
NC_000001.9:g.227633873A= NCBI36
NG_006672.1:g.7594T= , LRG_429:g.7594T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.1052T= ENSP00000355644.4:p.Phe351=
ENST00000684723.1:c.995T= ENSP00000508084.1:p.Phe332=
ENST00000366683.3:c.761T= ENSP00000355644.3:p.Phe254=
ENST00000366684.7:c.1130T= MANE Select ENSP00000355645.3:p.Phe377=
NM_001100.3:c.1130T= , LRG_429t1:c.1130T= NP_001091.1:p.Phe377=
NM_001100.4:c.1130T= MANE Select NP_001091.1:p.Phe377=