Canonical Allele Identifier: CA1226125657
Gene: ACTA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229432127G= , CM000663.2:g.229432127G= GRCh38
NC_000001.10:g.229567874G= , CM000663.1:g.229567874G= GRCh37
NC_000001.9:g.227634497G= NCBI36
NG_006672.1:g.6970C= , LRG_429:g.6970C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.675C= ENSP00000355644.4:p.Phe225=
ENST00000684723.1:c.540C= ENSP00000508084.1:p.Phe180=
ENST00000366683.3:c.480-265C= ENSP00000355644.3:n.480-265C=
ENST00000366684.7:c.675C= MANE Select ENSP00000355645.3:p.Phe225=
NM_001100.3:c.675C= , LRG_429t1:c.675C= NP_001091.1:p.Phe225=
NM_001100.4:c.675C= MANE Select NP_001091.1:p.Phe225=