Canonical Allele Identifier: CA345145362
Gene: ACTA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229431737C>G , CM000663.2:g.229431737C>G GRCh38
NC_000001.10:g.229567484C>G , CM000663.1:g.229567484C>G GRCh37
NC_000001.9:g.227634107C>G NCBI36
NG_006672.1:g.7360G>C , LRG_429:g.7360G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000366683.4:c.974G>C ENSP00000355644.4:p.Ser325Thr
ENST00000684723.1:c.839G>C ENSP00000508084.1:p.Ser280Thr
ENST00000366683.3:c.605G>C ENSP00000355644.3:p.Ser202Thr
ENST00000366684.7:c.974G>C MANE Select ENSP00000355645.3:p.Ser325Thr
NM_001100.3:c.974G>C , LRG_429t1:c.974G>C NP_001091.1:p.Ser325Thr
NM_001100.4:c.974G>C MANE Select NP_001091.1:p.Ser325Thr