Canonical Allele Identifier: CA345148331
Gene: ACTA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229432350C>G , CM000663.2:g.229432350C>G GRCh38
NC_000001.10:g.229568097C>G , CM000663.1:g.229568097C>G GRCh37
NC_000001.9:g.227634720C>G NCBI36
NG_006672.1:g.6747G>C , LRG_429:g.6747G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000366683.4:c.536G>C ENSP00000355644.4:p.Arg179Pro
ENST00000684723.1:c.401G>C ENSP00000508084.1:p.Arg134Pro
ENST00000366683.3:c.479+57G>C ENSP00000355644.3:n.479+57G>C
ENST00000366684.7:c.536G>C MANE Select ENSP00000355645.3:p.Arg179Pro
NM_001100.3:c.536G>C , LRG_429t1:c.536G>C NP_001091.1:p.Arg179Pro
NM_001100.4:c.536G>C MANE Select NP_001091.1:p.Arg179Pro