Canonical Allele Identifier: CA392100807
Gene: TGM5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43253552G>T , CM000677.2:g.43253552G>T GRCh38
NC_000015.9:g.43545750G>T , CM000677.1:g.43545750G>T GRCh37
NC_000015.8:g.41333042G>T NCBI36
NG_016124.1:g.18306C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000220420.10:c.638C>A MANE Select ENSP00000220420.5:p.Ala213Asp
ENST00000635871.1:n.107C>A
ENST00000220420.9:c.638C>A ENSP00000220420.5:p.Ala213Asp
ENST00000349114.8:c.392C>A ENSP00000220419.8:p.Ala131Asp
ENST00000610827.4:c.635C>A ENSP00000479732.1:p.Ala212Asp
ENST00000611276.4:c.389C>A ENSP00000482542.1:p.Ala130Asp
ENST00000622115.1:c.641C>A ENSP00000479638.1:p.Ala214Asp
NM_004245.3:c.392C>A NP_004236.1:p.Ala131Asp
NM_201631.3:c.638C>A NP_963925.2:p.Ala213Asp
XM_011522229.1:c.638C>A XP_011520531.1:p.Ala213Asp
XR_931948.1:n.812C>A
NM_004245.4:c.392C>A NP_004236.1:p.Ala131Asp
NM_201631.4:c.638C>A MANE Select NP_963925.2:p.Ala213Asp