Canonical Allele Identifier: CA1226125663
Gene: ACTA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229432153T= , CM000663.2:g.229432153T= GRCh38
NC_000001.10:g.229567900T= , CM000663.1:g.229567900T= GRCh37
NC_000001.9:g.227634523T= NCBI36
NG_006672.1:g.6944A= , LRG_429:g.6944A=

Transcript Alleles

HGVS Amino-acid change
ENST00000366683.4:c.649A= ENSP00000355644.4:p.Lys217=
ENST00000684723.1:c.514A= ENSP00000508084.1:p.Lys172=
ENST00000366683.3:c.479+254A= ENSP00000355644.3:n.479+254A=
ENST00000366684.7:c.649A= MANE Select ENSP00000355645.3:p.Lys217=
NM_001100.3:c.649A= , LRG_429t1:c.649A= NP_001091.1:p.Lys217=
NM_001100.4:c.649A= MANE Select NP_001091.1:p.Lys217=