Canonical Allele Identifier: CA16042921
Gene: TGM1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 372536
ClinVar RCV Id: RCV000413793

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24256063C>T , CM000676.2:g.24256063C>T GRCh38
NC_000014.8:g.24725269C>T , CM000676.1:g.24725269C>T GRCh37
NC_000014.7:g.23795109C>T NCBI36
NG_007150.1:g.12104G>A

Transcript Alleles

HGVS Amino-acid change
NM_000359.2:c.1417G>A VV NP_000350.1:p.Gly473Ser
ENST00000206765.10:c.1417G>A ENSP00000206765.6:p.Gly473Ser
ENST00000544573.5:c.91G>A ENSP00000439446.1:p.Gly31Ser
ENST00000559136.1:c.490G>A ENSP00000453337.1:p.Gly164Ser