Canonical Allele Identifier: CA345144144
Gene: ACTA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229431518A>G , CM000663.2:g.229431518A>G GRCh38
NC_000001.10:g.229567265A>G , CM000663.1:g.229567265A>G GRCh37
NC_000001.9:g.227633888A>G NCBI36
NG_006672.1:g.7579T>C , LRG_429:g.7579T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.1037T>C ENSP00000355644.4:p.Val346Ala
ENST00000684723.1:c.980T>C ENSP00000508084.1:p.Val327Ala
ENST00000366683.3:c.746T>C ENSP00000355644.3:p.Val249Ala
ENST00000366684.7:c.1115T>C MANE Select ENSP00000355645.3:p.Val372Ala
NM_001100.3:c.1115T>C , LRG_429t1:c.1115T>C NP_001091.1:p.Val372Ala
NM_001100.4:c.1115T>C MANE Select NP_001091.1:p.Val372Ala