Canonical Allele Identifier: CA1226125763
Gene: ACTA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229432387T= , CM000663.2:g.229432387T= GRCh38
NC_000001.10:g.229568134T= , CM000663.1:g.229568134T= GRCh37
NC_000001.9:g.227634757T= NCBI36
NG_006672.1:g.6710A= , LRG_429:g.6710A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.499A= ENSP00000355644.4:p.Ile167=
ENST00000684723.1:c.364A= ENSP00000508084.1:p.Ile122=
ENST00000366683.3:c.479+20A= ENSP00000355644.3:n.479+20A=
ENST00000366684.7:c.499A= MANE Select ENSP00000355645.3:p.Ile167=
NM_001100.3:c.499A= , LRG_429t1:c.499A= NP_001091.1:p.Ile167=
NM_001100.4:c.499A= MANE Select NP_001091.1:p.Ile167=