Canonical Allele Identifier: CA345145843
Gene: ACTA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229431824T>G , CM000663.2:g.229431824T>G GRCh38
NC_000001.10:g.229567571T>G , CM000663.1:g.229567571T>G GRCh37
NC_000001.9:g.227634194T>G NCBI36
NG_006672.1:g.7273A>C , LRG_429:g.7273A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000366683.4:c.887A>C ENSP00000355644.4:p.Tyr296Ser
ENST00000684723.1:c.752A>C ENSP00000508084.1:p.Tyr251Ser
ENST00000366683.3:c.518A>C ENSP00000355644.3:p.Tyr173Ser
ENST00000366684.7:c.887A>C MANE Select ENSP00000355645.3:p.Tyr296Ser
NM_001100.3:c.887A>C , LRG_429t1:c.887A>C NP_001091.1:p.Tyr296Ser
NM_001100.4:c.887A>C MANE Select NP_001091.1:p.Tyr296Ser