Canonical Allele Identifier: CA392099653
Gene: TGM5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43252889C>G , CM000677.2:g.43252889C>G GRCh38
NC_000015.9:g.43545087C>G , CM000677.1:g.43545087C>G GRCh37
NC_000015.8:g.41332379C>G NCBI36
NG_016124.1:g.18969G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000220420.10:c.732G>C MANE Select ENSP00000220420.5:p.Glu244Asp
ENST00000635871.1:n.201G>C
ENST00000220420.9:c.732G>C ENSP00000220420.5:p.Glu244Asp
ENST00000349114.8:c.486G>C ENSP00000220419.8:p.Glu162Asp
ENST00000610827.4:c.729G>C ENSP00000479732.1:p.Glu243Asp
ENST00000611276.4:c.483G>C ENSP00000482542.1:p.Glu161Asp
ENST00000622115.1:c.735G>C ENSP00000479638.1:p.Glu245Asp
NM_004245.3:c.486G>C NP_004236.1:p.Glu162Asp
NM_201631.3:c.732G>C NP_963925.2:p.Glu244Asp
XM_011522229.1:c.732G>C XP_011520531.1:p.Glu244Asp
XR_931948.1:n.906G>C
NM_004245.4:c.486G>C NP_004236.1:p.Glu162Asp
NM_201631.4:c.732G>C MANE Select NP_963925.2:p.Glu244Asp