Canonical Allele Identifier: CA345149323
Gene: ACTA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229432605G>C , CM000663.2:g.229432605G>C GRCh38
NC_000001.10:g.229568352G>C , CM000663.1:g.229568352G>C GRCh37
NC_000001.9:g.227634975G>C NCBI36
NG_006672.1:g.6492C>G , LRG_429:g.6492C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000366683.4:c.405C>G ENSP00000355644.4:p.Tyr135Ter
ENST00000684723.1:c.270C>G ENSP00000508084.1:p.Tyr90Ter
ENST00000366683.3:c.405C>G ENSP00000355644.3:p.Tyr135Ter
ENST00000366684.7:c.405C>G MANE Select ENSP00000355645.3:p.Tyr135Ter
NM_001100.3:c.405C>G , LRG_429t1:c.405C>G NP_001091.1:p.Tyr135Ter
NM_001100.4:c.405C>G MANE Select NP_001091.1:p.Tyr135Ter