Canonical Allele Identifier: CA392099322
Gene: TGM5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43252848C>T , CM000677.2:g.43252848C>T GRCh38
NC_000015.9:g.43545046C>T , CM000677.1:g.43545046C>T GRCh37
NC_000015.8:g.41332338C>T NCBI36
NG_016124.1:g.19010G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000220420.10:c.773G>A MANE Select ENSP00000220420.5:p.Ser258Asn
ENST00000635871.1:n.242G>A
ENST00000220420.9:c.773G>A ENSP00000220420.5:p.Ser258Asn
ENST00000349114.8:c.527G>A ENSP00000220419.8:p.Ser176Asn
ENST00000610827.4:c.770G>A ENSP00000479732.1:p.Ser257Asn
ENST00000611276.4:c.524G>A ENSP00000482542.1:p.Ser175Asn
ENST00000622115.1:c.776G>A ENSP00000479638.1:p.Ser259Asn
NM_004245.3:c.527G>A NP_004236.1:p.Ser176Asn
NM_201631.3:c.773G>A NP_963925.2:p.Ser258Asn
XM_011522229.1:c.773G>A XP_011520531.1:p.Ser258Asn
XR_931948.1:n.947G>A
NM_004245.4:c.527G>A NP_004236.1:p.Ser176Asn
NM_201631.4:c.773G>A MANE Select NP_963925.2:p.Ser258Asn