Canonical Allele Identifier: CA345149828
Gene: ACTA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229432681G>T , CM000663.2:g.229432681G>T GRCh38
NC_000001.10:g.229568428G>T , CM000663.1:g.229568428G>T GRCh37
NC_000001.9:g.227635051G>T NCBI36
NG_006672.1:g.6416C>A , LRG_429:g.6416C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.329C>A ENSP00000355644.4:p.Ala110Asp
ENST00000684723.1:c.194C>A ENSP00000508084.1:p.Ala65Asp
ENST00000366683.3:c.329C>A ENSP00000355644.3:p.Ala110Asp
ENST00000366684.7:c.329C>A MANE Select ENSP00000355645.3:p.Ala110Asp
NM_001100.3:c.329C>A , LRG_429t1:c.329C>A NP_001091.1:p.Ala110Asp
NM_001100.4:c.329C>A MANE Select NP_001091.1:p.Ala110Asp