Canonical Allele Identifier: CA1226125660
Gene: ACTA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229432143T= , CM000663.2:g.229432143T= GRCh38
NC_000001.10:g.229567890T= , CM000663.1:g.229567890T= GRCh37
NC_000001.9:g.227634513T= NCBI36
NG_006672.1:g.6954A= , LRG_429:g.6954A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.659A= ENSP00000355644.4:p.Tyr220=
ENST00000684723.1:c.524A= ENSP00000508084.1:p.Tyr175=
ENST00000366683.3:c.479+264A= ENSP00000355644.3:n.479+264A=
ENST00000366684.7:c.659A= MANE Select ENSP00000355645.3:p.Tyr220=
NM_001100.3:c.659A= , LRG_429t1:c.659A= NP_001091.1:p.Tyr220=
NM_001100.4:c.659A= MANE Select NP_001091.1:p.Tyr220=