Canonical Allele Identifier: CA345148354
Gene: ACTA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229432353A>C , CM000663.2:g.229432353A>C GRCh38
NC_000001.10:g.229568100A>C , CM000663.1:g.229568100A>C GRCh37
NC_000001.9:g.227634723A>C NCBI36
NG_006672.1:g.6744T>G , LRG_429:g.6744T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000366683.4:c.533T>G ENSP00000355644.4:p.Met178Arg
ENST00000684723.1:c.398T>G ENSP00000508084.1:p.Met133Arg
ENST00000366683.3:c.479+54T>G ENSP00000355644.3:n.479+54T>G
ENST00000366684.7:c.533T>G MANE Select ENSP00000355645.3:p.Met178Arg
NM_001100.3:c.533T>G , LRG_429t1:c.533T>G NP_001091.1:p.Met178Arg
NM_001100.4:c.533T>G MANE Select NP_001091.1:p.Met178Arg