Canonical Allele Identifier: CA345148404
Gene: ACTA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229432354T>C , CM000663.2:g.229432354T>C GRCh38
NC_000001.10:g.229568101T>C , CM000663.1:g.229568101T>C GRCh37
NC_000001.9:g.227634724T>C NCBI36
NG_006672.1:g.6743A>G , LRG_429:g.6743A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000366683.4:c.532A>G ENSP00000355644.4:p.Met178Val
ENST00000684723.1:c.397A>G ENSP00000508084.1:p.Met133Val
ENST00000366683.3:c.479+53A>G ENSP00000355644.3:n.479+53A>G
ENST00000366684.7:c.532A>G MANE Select ENSP00000355645.3:p.Met178Val
NM_001100.3:c.532A>G , LRG_429t1:c.532A>G NP_001091.1:p.Met178Val
NM_001100.4:c.532A>G MANE Select NP_001091.1:p.Met178Val