Canonical Allele Identifier: CA392100014
Gene: TGM5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43252926T>A , CM000677.2:g.43252926T>A GRCh38
NC_000015.9:g.43545124T>A , CM000677.1:g.43545124T>A GRCh37
NC_000015.8:g.41332416T>A NCBI36
NG_016124.1:g.18932A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000220420.10:c.695A>T MANE Select ENSP00000220420.5:p.Asn232Ile
ENST00000635871.1:n.164A>T
ENST00000220420.9:c.695A>T ENSP00000220420.5:p.Asn232Ile
ENST00000349114.8:c.449A>T ENSP00000220419.8:p.Asn150Ile
ENST00000610827.4:c.692A>T ENSP00000479732.1:p.Asn231Ile
ENST00000611276.4:c.446A>T ENSP00000482542.1:p.Asn149Ile
ENST00000622115.1:c.698A>T ENSP00000479638.1:p.Asn233Ile
NM_004245.3:c.449A>T NP_004236.1:p.Asn150Ile
NM_201631.3:c.695A>T NP_963925.2:p.Asn232Ile
XM_011522229.1:c.695A>T XP_011520531.1:p.Asn232Ile
XR_931948.1:n.869A>T
NM_004245.4:c.449A>T NP_004236.1:p.Asn150Ile
NM_201631.4:c.695A>T MANE Select NP_963925.2:p.Asn232Ile