Canonical Allele Identifier: CA345149341
Gene: ACTA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229432607A>C , CM000663.2:g.229432607A>C GRCh38
NC_000001.10:g.229568354A>C , CM000663.1:g.229568354A>C GRCh37
NC_000001.9:g.227634977A>C NCBI36
NG_006672.1:g.6490T>G , LRG_429:g.6490T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000366683.4:c.403T>G ENSP00000355644.4:p.Tyr135Asp
ENST00000684723.1:c.268T>G ENSP00000508084.1:p.Tyr90Asp
ENST00000366683.3:c.403T>G ENSP00000355644.3:p.Tyr135Asp
ENST00000366684.7:c.403T>G MANE Select ENSP00000355645.3:p.Tyr135Asp
NM_001100.3:c.403T>G , LRG_429t1:c.403T>G NP_001091.1:p.Tyr135Asp
NM_001100.4:c.403T>G MANE Select NP_001091.1:p.Tyr135Asp