Canonical Allele Identifier: CA1226125399
Gene: ACTA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229431604G= , CM000663.2:g.229431604G= GRCh38
NC_000001.10:g.229567351G= , CM000663.1:g.229567351G= GRCh37
NC_000001.9:g.227633974G= NCBI36
NG_006672.1:g.7493C= , LRG_429:g.7493C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.991-40C= ENSP00000355644.4:n.991-40C=
ENST00000684723.1:c.894C= ENSP00000508084.1:p.Ile298=
ENST00000366683.3:c.660C= ENSP00000355644.3:p.Ile220=
ENST00000366684.7:c.1029C= MANE Select ENSP00000355645.3:p.Ile343=
NM_001100.3:c.1029C= , LRG_429t1:c.1029C= NP_001091.1:p.Ile343=
NM_001100.4:c.1029C= MANE Select NP_001091.1:p.Ile343=