Canonical Allele Identifier: CA1144093655
Gene: ACTA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229431568C= , CM000663.2:g.229431568C= GRCh38
NC_000001.10:g.229567315C= , CM000663.1:g.229567315C= GRCh37
NC_000001.9:g.227633938C= NCBI36
NG_006672.1:g.7529G= , LRG_429:g.7529G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.991-4G= ENSP00000355644.4:n.991-4G=
ENST00000684723.1:c.930G= ENSP00000508084.1:p.Gln310=
ENST00000366683.3:c.696G= ENSP00000355644.3:p.Gln232=
ENST00000366684.7:c.1065G= MANE Select ENSP00000355645.3:p.Gln355=
NM_001100.3:c.1065G= , LRG_429t1:c.1065G= NP_001091.1:p.Gln355=
NM_001100.4:c.1065G= MANE Select NP_001091.1:p.Gln355=