Canonical Allele Identifier: CA392100884
Gene: TGM5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43253558T>G , CM000677.2:g.43253558T>G GRCh38
NC_000015.9:g.43545756T>G , CM000677.1:g.43545756T>G GRCh37
NC_000015.8:g.41333048T>G NCBI36
NG_016124.1:g.18300A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000220420.10:c.632A>C MANE Select ENSP00000220420.5:p.Asp211Ala
ENST00000635871.1:n.101A>C
ENST00000220420.9:c.632A>C ENSP00000220420.5:p.Asp211Ala
ENST00000349114.8:c.386A>C ENSP00000220419.8:p.Asp129Ala
ENST00000610827.4:c.629A>C ENSP00000479732.1:p.Asp210Ala
ENST00000611276.4:c.383A>C ENSP00000482542.1:p.Asp128Ala
ENST00000622115.1:c.635A>C ENSP00000479638.1:p.Asp212Ala
NM_004245.3:c.386A>C NP_004236.1:p.Asp129Ala
NM_201631.3:c.632A>C NP_963925.2:p.Asp211Ala
XM_011522229.1:c.632A>C XP_011520531.1:p.Asp211Ala
XR_931948.1:n.806A>C
NM_004245.4:c.386A>C NP_004236.1:p.Asp129Ala
NM_201631.4:c.632A>C MANE Select NP_963925.2:p.Asp211Ala