Canonical Allele Identifier: CA392099317
Gene: TGM5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43252847G>T , CM000677.2:g.43252847G>T GRCh38
NC_000015.9:g.43545045G>T , CM000677.1:g.43545045G>T GRCh37
NC_000015.8:g.41332337G>T NCBI36
NG_016124.1:g.19011C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000220420.10:c.774C>A MANE Select ENSP00000220420.5:p.Ser258Arg
ENST00000635871.1:n.243C>A
ENST00000220420.9:c.774C>A ENSP00000220420.5:p.Ser258Arg
ENST00000349114.8:c.528C>A ENSP00000220419.8:p.Ser176Arg
ENST00000610827.4:c.771C>A ENSP00000479732.1:p.Ser257Arg
ENST00000611276.4:c.525C>A ENSP00000482542.1:p.Ser175Arg
ENST00000622115.1:c.777C>A ENSP00000479638.1:p.Ser259Arg
NM_004245.3:c.528C>A NP_004236.1:p.Ser176Arg
NM_201631.3:c.774C>A NP_963925.2:p.Ser258Arg
XM_011522229.1:c.774C>A XP_011520531.1:p.Ser258Arg
XR_931948.1:n.948C>A
NM_004245.4:c.528C>A NP_004236.1:p.Ser176Arg
NM_201631.4:c.774C>A MANE Select NP_963925.2:p.Ser258Arg