Canonical Allele Identifier: CA1226125641
Gene: ACTA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229432087C= , CM000663.2:g.229432087C= GRCh38
NC_000001.10:g.229567834C= , CM000663.1:g.229567834C= GRCh37
NC_000001.9:g.227634457C= NCBI36
NG_006672.1:g.7010G= , LRG_429:g.7010G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.715G= ENSP00000355644.4:p.Glu239=
ENST00000684723.1:c.580G= ENSP00000508084.1:p.Glu194=
ENST00000366683.3:c.480-225G= ENSP00000355644.3:n.480-225G=
ENST00000366684.7:c.715G= MANE Select ENSP00000355645.3:p.Glu239=
NM_001100.3:c.715G= , LRG_429t1:c.715G= NP_001091.1:p.Glu239=
NM_001100.4:c.715G= MANE Select NP_001091.1:p.Glu239=