Canonical Allele Identifier: CA392098887
Gene: TGM5 HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000220420.10:c.845C>A MANE Select ENSP00000220420.5:p.Ala282Asp
ENST00000635871.1:n.314C>A
ENST00000220420.9:c.845C>A ENSP00000220420.5:p.Ala282Asp
ENST00000349114.8:c.599C>A ENSP00000220419.8:p.Ala200Asp
ENST00000610827.4:c.842C>A ENSP00000479732.1:p.Ala281Asp
ENST00000611276.4:c.596C>A ENSP00000482542.1:p.Ala199Asp
ENST00000622115.1:c.848C>A ENSP00000479638.1:p.Ala283Asp
NM_004245.3:c.599C>A NP_004236.1:p.Ala200Asp
NM_201631.3:c.845C>A NP_963925.2:p.Ala282Asp
XM_011522229.1:c.845C>A XP_011520531.1:p.Ala282Asp
XR_931948.1:n.1019C>A
NM_004245.4:c.599C>A NP_004236.1:p.Ala200Asp
NM_201631.4:c.845C>A MANE Select NP_963925.2:p.Ala282Asp