Canonical Allele Identifier: CA392098804
Gene: TGM5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43252761G>C , CM000677.2:g.43252761G>C GRCh38
NC_000015.9:g.43544959G>C , CM000677.1:g.43544959G>C GRCh37
NC_000015.8:g.41332251G>C NCBI36
NG_016124.1:g.19097C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000220420.10:c.860C>G MANE Select ENSP00000220420.5:p.Thr287Arg
ENST00000635871.1:n.329C>G
ENST00000220420.9:c.860C>G ENSP00000220420.5:p.Thr287Arg
ENST00000349114.8:c.614C>G ENSP00000220419.8:p.Thr205Arg
ENST00000610827.4:c.857C>G ENSP00000479732.1:p.Thr286Arg
ENST00000611276.4:c.611C>G ENSP00000482542.1:p.Thr204Arg
ENST00000622115.1:c.863C>G ENSP00000479638.1:p.Thr288Arg
NM_004245.3:c.614C>G NP_004236.1:p.Thr205Arg
NM_201631.3:c.860C>G NP_963925.2:p.Thr287Arg
XM_011522229.1:c.860C>G XP_011520531.1:p.Thr287Arg
XR_931948.1:n.1034C>G
NM_004245.4:c.614C>G NP_004236.1:p.Thr205Arg
NM_201631.4:c.860C>G MANE Select NP_963925.2:p.Thr287Arg