Canonical Allele Identifier: CA392099257

Gene: TGM5

Linked Data

• gnomAD v4: 15-43252839-A-G
• MyVariant Identifiers: chr15:g.43545037A>G (hg19) ; chr15:g.43252839A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43252839A>G , CM000677.2:g.43252839A>G	GRCh38
NC_000015.9:g.43545037A>G , CM000677.1:g.43545037A>G	GRCh37
NC_000015.8:g.41332329A>G	NCBI36
NG_016124.1:g.19019T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220420.10:c.782T>C MANE Select	ENSP00000220420.5:p.Ile261Thr
ENST00000635871.1:n.251T>C
ENST00000220420.9:c.782T>C	ENSP00000220420.5:p.Ile261Thr
ENST00000349114.8:c.536T>C	ENSP00000220419.8:p.Ile179Thr
ENST00000610827.4:c.779T>C	ENSP00000479732.1:p.Ile260Thr
ENST00000611276.4:c.533T>C	ENSP00000482542.1:p.Ile178Thr
ENST00000622115.1:c.785T>C	ENSP00000479638.1:p.Ile262Thr
NM_004245.3:c.536T>C	NP_004236.1:p.Ile179Thr
NM_201631.3:c.782T>C	NP_963925.2:p.Ile261Thr
XM_011522229.1:c.782T>C	XP_011520531.1:p.Ile261Thr
XR_931948.1:n.956T>C
NM_004245.4:c.536T>C	NP_004236.1:p.Ile179Thr
NM_201631.4:c.782T>C MANE Select	NP_963925.2:p.Ile261Thr