Canonical Allele Identifier: CA392099899
Gene: TGM5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43252915C>T , CM000677.2:g.43252915C>T GRCh38
NC_000015.9:g.43545113C>T , CM000677.1:g.43545113C>T GRCh37
NC_000015.8:g.41332405C>T NCBI36
NG_016124.1:g.18943G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000220420.10:c.706G>A MANE Select ENSP00000220420.5:p.Gly236Arg
ENST00000635871.1:n.175G>A
ENST00000220420.9:c.706G>A ENSP00000220420.5:p.Gly236Arg
ENST00000349114.8:c.460G>A ENSP00000220419.8:p.Gly154Arg
ENST00000610827.4:c.703G>A ENSP00000479732.1:p.Gly235Arg
ENST00000611276.4:c.457G>A ENSP00000482542.1:p.Gly153Arg
ENST00000622115.1:c.709G>A ENSP00000479638.1:p.Gly237Arg
NM_004245.3:c.460G>A NP_004236.1:p.Gly154Arg
NM_201631.3:c.706G>A NP_963925.2:p.Gly236Arg
XM_011522229.1:c.706G>A XP_011520531.1:p.Gly236Arg
XR_931948.1:n.880G>A
NM_004245.4:c.460G>A NP_004236.1:p.Gly154Arg
NM_201631.4:c.706G>A MANE Select NP_963925.2:p.Gly236Arg