Canonical Allele Identifier: CA389264968
Gene: TGM1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24259188C>A , CM000676.2:g.24259188C>A GRCh38
NC_000014.8:g.24728394C>A , CM000676.1:g.24728394C>A GRCh37
NC_000014.7:g.23798234C>A NCBI36
NG_007150.1:g.8979G>T
NG_007150.2:g.8979G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000206765.11:c.1046G>T MANE Select ENSP00000206765.6:p.Gly349Val
ENST00000206765.10:c.1046G>T ENSP00000206765.6:p.Gly349Val
ENST00000544573.5:c.-28-800G>T ENSP00000439446.1:n.-28-800G>T
ENST00000559136.1:c.119G>T ENSP00000453337.1:p.Gly40Val
NM_000359.2:c.1046G>T NP_000350.1:p.Gly349Val
NM_000359.3:c.1046G>T MANE Select NP_000350.1:p.Gly349Val