Canonical Allele Identifier: CA345147103
Gene: ACTA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229432122T>A , CM000663.2:g.229432122T>A GRCh38
NC_000001.10:g.229567869T>A , CM000663.1:g.229567869T>A GRCh37
NC_000001.9:g.227634492T>A NCBI36
NG_006672.1:g.6975A>T , LRG_429:g.6975A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.680A>T ENSP00000355644.4:p.Asn227Ile
ENST00000684723.1:c.545A>T ENSP00000508084.1:p.Asn182Ile
ENST00000366683.3:c.480-260A>T ENSP00000355644.3:n.480-260A>T
ENST00000366684.7:c.680A>T MANE Select ENSP00000355645.3:p.Asn227Ile
NM_001100.3:c.680A>T , LRG_429t1:c.680A>T NP_001091.1:p.Asn227Ile
NM_001100.4:c.680A>T MANE Select NP_001091.1:p.Asn227Ile