Canonical Allele Identifier: CA345147050
Gene: ACTA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229432114C>T , CM000663.2:g.229432114C>T GRCh38
NC_000001.10:g.229567861C>T , CM000663.1:g.229567861C>T GRCh37
NC_000001.9:g.227634484C>T NCBI36
NG_006672.1:g.6983G>A , LRG_429:g.6983G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.688G>A ENSP00000355644.4:p.Ala230Thr
ENST00000684723.1:c.553G>A ENSP00000508084.1:p.Ala185Thr
ENST00000366683.3:c.480-252G>A ENSP00000355644.3:n.480-252G>A
ENST00000366684.7:c.688G>A MANE Select ENSP00000355645.3:p.Ala230Thr
NM_001100.3:c.688G>A , LRG_429t1:c.688G>A NP_001091.1:p.Ala230Thr
NM_001100.4:c.688G>A MANE Select NP_001091.1:p.Ala230Thr