Canonical Allele Identifier: CA1226125653
Gene: ACTA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229432118C= , CM000663.2:g.229432118C= GRCh38
NC_000001.10:g.229567865C= , CM000663.1:g.229567865C= GRCh37
NC_000001.9:g.227634488C= NCBI36
NG_006672.1:g.6979G= , LRG_429:g.6979G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.684G= ENSP00000355644.4:p.Glu228=
ENST00000684723.1:c.549G= ENSP00000508084.1:p.Glu183=
ENST00000366683.3:c.480-256G= ENSP00000355644.3:n.480-256G=
ENST00000366684.7:c.684G= MANE Select ENSP00000355645.3:p.Glu228=
NM_001100.3:c.684G= , LRG_429t1:c.684G= NP_001091.1:p.Glu228=
NM_001100.4:c.684G= MANE Select NP_001091.1:p.Glu228=