Canonical Allele Identifier: CA256469
Gene: TGM1 HGNC NCBI

Linked Data

ClinVar Variation Id: 12492
dbSNP Id: rs121918725

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24259984C>T , CM000676.2:g.24259984C>T GRCh38
NC_000014.8:g.24729190C>T , CM000676.1:g.24729190C>T GRCh37
NC_000014.7:g.23799030C>T NCBI36
NG_007150.1:g.8183G>A
NG_007150.2:g.8183G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000206765.11:c.832G>A MANE Select ENSP00000206765.6:p.Gly278Arg
ENST00000206765.10:c.832G>A ENSP00000206765.6:p.Gly278Arg
ENST00000544573.5:c.-28-1596G>A ENSP00000439446.1:n.-28-1596G>A
ENST00000559136.1:c.-96G>A ENSP00000453337.1:n.-96G>A
NM_000359.2:c.832G>A NP_000350.1:p.Gly278Arg
NM_000359.3:c.832G>A MANE Select NP_000350.1:p.Gly278Arg