Canonical Allele Identifier: CA345144221
Gene: ACTA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229431530C>A , CM000663.2:g.229431530C>A GRCh38
NC_000001.10:g.229567277C>A , CM000663.1:g.229567277C>A GRCh37
NC_000001.9:g.227633900C>A NCBI36
NG_006672.1:g.7567G>T , LRG_429:g.7567G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.1025G>T ENSP00000355644.4:p.Gly342Val
ENST00000684723.1:c.968G>T ENSP00000508084.1:p.Gly323Val
ENST00000366683.3:c.734G>T ENSP00000355644.3:p.Gly245Val
ENST00000366684.7:c.1103G>T MANE Select ENSP00000355645.3:p.Gly368Val
NM_001100.3:c.1103G>T , LRG_429t1:c.1103G>T NP_001091.1:p.Gly368Val
NM_001100.4:c.1103G>T MANE Select NP_001091.1:p.Gly368Val