Canonical Allele Identifier: CA490131448

Gene: TGM5

Linked Data

• gnomAD v4: 15-43252793-C-A
• MyVariant Identifiers: chr15:g.43544991C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43252793C>A , CM000677.2:g.43252793C>A	GRCh38
NC_000015.9:g.43544991C>A , CM000677.1:g.43544991C>A	GRCh37
NC_000015.8:g.41332283C>A	NCBI36
NG_016124.1:g.19065G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220420.10:c.828G>T MANE Select	ENSP00000220420.5:p.Gly276=
ENST00000635871.1:n.297G>T
ENST00000220420.9:c.828G>T	ENSP00000220420.5:p.Gly276=
ENST00000349114.8:c.582G>T	ENSP00000220419.8:p.Gly194=
ENST00000610827.4:c.825G>T	ENSP00000479732.1:p.Gly275=
ENST00000611276.4:c.579G>T	ENSP00000482542.1:p.Gly193=
ENST00000622115.1:c.831G>T	ENSP00000479638.1:p.Gly277=
NM_004245.3:c.582G>T	NP_004236.1:p.Gly194=
NM_201631.3:c.828G>T	NP_963925.2:p.Gly276=
XM_011522229.1:c.828G>T	XP_011520531.1:p.Gly276=
XR_931948.1:n.1002G>T
NM_004245.4:c.582G>T	NP_004236.1:p.Gly194=
NM_201631.4:c.828G>T MANE Select	NP_963925.2:p.Gly276=