Canonical Allele Identifier: CA392099635
Gene: TGM5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43252887T>A , CM000677.2:g.43252887T>A GRCh38
NC_000015.9:g.43545085T>A , CM000677.1:g.43545085T>A GRCh37
NC_000015.8:g.41332377T>A NCBI36
NG_016124.1:g.18971A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000220420.10:c.734A>T MANE Select ENSP00000220420.5:p.Asn245Ile
ENST00000635871.1:n.203A>T
ENST00000220420.9:c.734A>T ENSP00000220420.5:p.Asn245Ile
ENST00000349114.8:c.488A>T ENSP00000220419.8:p.Asn163Ile
ENST00000610827.4:c.731A>T ENSP00000479732.1:p.Asn244Ile
ENST00000611276.4:c.485A>T ENSP00000482542.1:p.Asn162Ile
ENST00000622115.1:c.737A>T ENSP00000479638.1:p.Asn246Ile
NM_004245.3:c.488A>T NP_004236.1:p.Asn163Ile
NM_201631.3:c.734A>T NP_963925.2:p.Asn245Ile
XM_011522229.1:c.734A>T XP_011520531.1:p.Asn245Ile
XR_931948.1:n.908A>T
NM_004245.4:c.488A>T NP_004236.1:p.Asn163Ile
NM_201631.4:c.734A>T MANE Select NP_963925.2:p.Asn245Ile