Canonical Allele Identifier: CA392098809
Gene: TGM5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43252762T>A , CM000677.2:g.43252762T>A GRCh38
NC_000015.9:g.43544960T>A , CM000677.1:g.43544960T>A GRCh37
NC_000015.8:g.41332252T>A NCBI36
NG_016124.1:g.19096A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000220420.10:c.859A>T MANE Select ENSP00000220420.5:p.Thr287Ser
ENST00000635871.1:n.328A>T
ENST00000220420.9:c.859A>T ENSP00000220420.5:p.Thr287Ser
ENST00000349114.8:c.613A>T ENSP00000220419.8:p.Thr205Ser
ENST00000610827.4:c.856A>T ENSP00000479732.1:p.Thr286Ser
ENST00000611276.4:c.610A>T ENSP00000482542.1:p.Thr204Ser
ENST00000622115.1:c.862A>T ENSP00000479638.1:p.Thr288Ser
NM_004245.3:c.613A>T NP_004236.1:p.Thr205Ser
NM_201631.3:c.859A>T NP_963925.2:p.Thr287Ser
XM_011522229.1:c.859A>T XP_011520531.1:p.Thr287Ser
XR_931948.1:n.1033A>T
NM_004245.4:c.613A>T NP_004236.1:p.Thr205Ser
NM_201631.4:c.859A>T MANE Select NP_963925.2:p.Thr287Ser