Canonical Allele Identifier: CA345148095
Gene: ACTA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229432305A>T , CM000663.2:g.229432305A>T GRCh38
NC_000001.10:g.229568052A>T , CM000663.1:g.229568052A>T GRCh37
NC_000001.9:g.227634675A>T NCBI36
NG_006672.1:g.6792T>A , LRG_429:g.6792T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.581T>A ENSP00000355644.4:p.Ile194Asn
ENST00000684723.1:c.446T>A ENSP00000508084.1:p.Ile149Asn
ENST00000366683.3:c.479+102T>A ENSP00000355644.3:n.479+102T>A
ENST00000366684.7:c.581T>A MANE Select ENSP00000355645.3:p.Ile194Asn
NM_001100.3:c.581T>A , LRG_429t1:c.581T>A NP_001091.1:p.Ile194Asn
NM_001100.4:c.581T>A MANE Select NP_001091.1:p.Ile194Asn