Canonical Allele Identifier: CA392098885
Gene: TGM5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43252776G>C , CM000677.2:g.43252776G>C GRCh38
NC_000015.9:g.43544974G>C , CM000677.1:g.43544974G>C GRCh37
NC_000015.8:g.41332266G>C NCBI36
NG_016124.1:g.19082C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000220420.10:c.845C>G MANE Select ENSP00000220420.5:p.Ala282Gly
ENST00000635871.1:n.314C>G
ENST00000220420.9:c.845C>G ENSP00000220420.5:p.Ala282Gly
ENST00000349114.8:c.599C>G ENSP00000220419.8:p.Ala200Gly
ENST00000610827.4:c.842C>G ENSP00000479732.1:p.Ala281Gly
ENST00000611276.4:c.596C>G ENSP00000482542.1:p.Ala199Gly
ENST00000622115.1:c.848C>G ENSP00000479638.1:p.Ala283Gly
NM_004245.3:c.599C>G NP_004236.1:p.Ala200Gly
NM_201631.3:c.845C>G NP_963925.2:p.Ala282Gly
XM_011522229.1:c.845C>G XP_011520531.1:p.Ala282Gly
XR_931948.1:n.1019C>G
NM_004245.4:c.599C>G NP_004236.1:p.Ala200Gly
NM_201631.4:c.845C>G MANE Select NP_963925.2:p.Ala282Gly