Canonical Allele Identifier: CA392099649
Gene: TGM5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43252888T>G , CM000677.2:g.43252888T>G GRCh38
NC_000015.9:g.43545086T>G , CM000677.1:g.43545086T>G GRCh37
NC_000015.8:g.41332378T>G NCBI36
NG_016124.1:g.18970A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000220420.10:c.733A>C MANE Select ENSP00000220420.5:p.Asn245His
ENST00000635871.1:n.202A>C
ENST00000220420.9:c.733A>C ENSP00000220420.5:p.Asn245His
ENST00000349114.8:c.487A>C ENSP00000220419.8:p.Asn163His
ENST00000610827.4:c.730A>C ENSP00000479732.1:p.Asn244His
ENST00000611276.4:c.484A>C ENSP00000482542.1:p.Asn162His
ENST00000622115.1:c.736A>C ENSP00000479638.1:p.Asn246His
NM_004245.3:c.487A>C NP_004236.1:p.Asn163His
NM_201631.3:c.733A>C NP_963925.2:p.Asn245His
XM_011522229.1:c.733A>C XP_011520531.1:p.Asn245His
XR_931948.1:n.907A>C
NM_004245.4:c.487A>C NP_004236.1:p.Asn163His
NM_201631.4:c.733A>C MANE Select NP_963925.2:p.Asn245His