Canonical Allele Identifier: CA392100890
Gene: TGM5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43253559C>A , CM000677.2:g.43253559C>A GRCh38
NC_000015.9:g.43545757C>A , CM000677.1:g.43545757C>A GRCh37
NC_000015.8:g.41333049C>A NCBI36
NG_016124.1:g.18299G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000220420.10:c.631G>T MANE Select ENSP00000220420.5:p.Asp211Tyr
ENST00000635871.1:n.100G>T
ENST00000220420.9:c.631G>T ENSP00000220420.5:p.Asp211Tyr
ENST00000349114.8:c.385G>T ENSP00000220419.8:p.Asp129Tyr
ENST00000610827.4:c.628G>T ENSP00000479732.1:p.Asp210Tyr
ENST00000611276.4:c.382G>T ENSP00000482542.1:p.Asp128Tyr
ENST00000622115.1:c.634G>T ENSP00000479638.1:p.Asp212Tyr
NM_004245.3:c.385G>T NP_004236.1:p.Asp129Tyr
NM_201631.3:c.631G>T NP_963925.2:p.Asp211Tyr
XM_011522229.1:c.631G>T XP_011520531.1:p.Asp211Tyr
XR_931948.1:n.805G>T
NM_004245.4:c.385G>T NP_004236.1:p.Asp129Tyr
NM_201631.4:c.631G>T MANE Select NP_963925.2:p.Asp211Tyr