Canonical Allele Identifier: CA392099076

Gene: TGM5

Linked Data

• MyVariant Identifiers: chr15:g.43545006C>A (hg19) ; chr15:g.43252808C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43252808C>A , CM000677.2:g.43252808C>A	GRCh38
NC_000015.9:g.43545006C>A , CM000677.1:g.43545006C>A	GRCh37
NC_000015.8:g.41332298C>A	NCBI36
NG_016124.1:g.19050G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220420.10:c.813G>T MANE Select	ENSP00000220420.5:p.Gln271His
ENST00000635871.1:n.282G>T
ENST00000220420.9:c.813G>T	ENSP00000220420.5:p.Gln271His
ENST00000349114.8:c.567G>T	ENSP00000220419.8:p.Gln189His
ENST00000610827.4:c.810G>T	ENSP00000479732.1:p.Gln270His
ENST00000611276.4:c.564G>T	ENSP00000482542.1:p.Gln188His
ENST00000622115.1:c.816G>T	ENSP00000479638.1:p.Gln272His
NM_004245.3:c.567G>T	NP_004236.1:p.Gln189His
NM_201631.3:c.813G>T	NP_963925.2:p.Gln271His
XM_011522229.1:c.813G>T	XP_011520531.1:p.Gln271His
XR_931948.1:n.987G>T
NM_004245.4:c.567G>T	NP_004236.1:p.Gln189His
NM_201631.4:c.813G>T MANE Select	NP_963925.2:p.Gln271His