Canonical Allele Identifier: CA392099203
Gene: TGM5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43252831G>A , CM000677.2:g.43252831G>A GRCh38
NC_000015.9:g.43545029G>A , CM000677.1:g.43545029G>A GRCh37
NC_000015.8:g.41332321G>A NCBI36
NG_016124.1:g.19027C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000220420.10:c.790C>T MANE Select ENSP00000220420.5:p.Gln264Ter
ENST00000635871.1:n.259C>T
ENST00000220420.9:c.790C>T ENSP00000220420.5:p.Gln264Ter
ENST00000349114.8:c.544C>T ENSP00000220419.8:p.Gln182Ter
ENST00000610827.4:c.787C>T ENSP00000479732.1:p.Gln263Ter
ENST00000611276.4:c.541C>T ENSP00000482542.1:p.Gln181Ter
ENST00000622115.1:c.793C>T ENSP00000479638.1:p.Gln265Ter
NM_004245.3:c.544C>T NP_004236.1:p.Gln182Ter
NM_201631.3:c.790C>T NP_963925.2:p.Gln264Ter
XM_011522229.1:c.790C>T XP_011520531.1:p.Gln264Ter
XR_931948.1:n.964C>T
NM_004245.4:c.544C>T NP_004236.1:p.Gln182Ter
NM_201631.4:c.790C>T MANE Select NP_963925.2:p.Gln264Ter