Canonical Allele Identifier: CA1226125649
Gene: ACTA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229432106G= , CM000663.2:g.229432106G= GRCh38
NC_000001.10:g.229567853G= , CM000663.1:g.229567853G= GRCh37
NC_000001.9:g.227634476G= NCBI36
NG_006672.1:g.6991C= , LRG_429:g.6991C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.696C= ENSP00000355644.4:p.Ala232=
ENST00000684723.1:c.561C= ENSP00000508084.1:p.Ala187=
ENST00000366683.3:c.480-244C= ENSP00000355644.3:n.480-244C=
ENST00000366684.7:c.696C= MANE Select ENSP00000355645.3:p.Ala232=
NM_001100.3:c.696C= , LRG_429t1:c.696C= NP_001091.1:p.Ala232=
NM_001100.4:c.696C= MANE Select NP_001091.1:p.Ala232=