Canonical Allele Identifier: CA392100903
Gene: TGM5 HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000220420.10:c.631G>A MANE Select ENSP00000220420.5:p.Asp211Asn
ENST00000635871.1:n.100G>A
ENST00000220420.9:c.631G>A ENSP00000220420.5:p.Asp211Asn
ENST00000349114.8:c.385G>A ENSP00000220419.8:p.Asp129Asn
ENST00000610827.4:c.628G>A ENSP00000479732.1:p.Asp210Asn
ENST00000611276.4:c.382G>A ENSP00000482542.1:p.Asp128Asn
ENST00000622115.1:c.634G>A ENSP00000479638.1:p.Asp212Asn
NM_004245.3:c.385G>A NP_004236.1:p.Asp129Asn
NM_201631.3:c.631G>A NP_963925.2:p.Asp211Asn
XM_011522229.1:c.631G>A XP_011520531.1:p.Asp211Asn
XR_931948.1:n.805G>A
NM_004245.4:c.385G>A NP_004236.1:p.Asp129Asn
NM_201631.4:c.631G>A MANE Select NP_963925.2:p.Asp211Asn