Canonical Allele Identifier: CA392099660
Gene: TGM5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43252890T>C , CM000677.2:g.43252890T>C GRCh38
NC_000015.9:g.43545088T>C , CM000677.1:g.43545088T>C GRCh37
NC_000015.8:g.41332380T>C NCBI36
NG_016124.1:g.18968A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000220420.10:c.731A>G MANE Select ENSP00000220420.5:p.Glu244Gly
ENST00000635871.1:n.200A>G
ENST00000220420.9:c.731A>G ENSP00000220420.5:p.Glu244Gly
ENST00000349114.8:c.485A>G ENSP00000220419.8:p.Glu162Gly
ENST00000610827.4:c.728A>G ENSP00000479732.1:p.Glu243Gly
ENST00000611276.4:c.482A>G ENSP00000482542.1:p.Glu161Gly
ENST00000622115.1:c.734A>G ENSP00000479638.1:p.Glu245Gly
NM_004245.3:c.485A>G NP_004236.1:p.Glu162Gly
NM_201631.3:c.731A>G NP_963925.2:p.Glu244Gly
XM_011522229.1:c.731A>G XP_011520531.1:p.Glu244Gly
XR_931948.1:n.905A>G
NM_004245.4:c.485A>G NP_004236.1:p.Glu162Gly
NM_201631.4:c.731A>G MANE Select NP_963925.2:p.Glu244Gly