Canonical Allele Identifier: CA392100823

Gene: TGM5

Linked Data

• gnomAD v4: 15-43253553-C-T
• MyVariant Identifiers: chr15:g.43545751C>T (hg19) ; chr15:g.43253553C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43253553C>T , CM000677.2:g.43253553C>T	GRCh38
NC_000015.9:g.43545751C>T , CM000677.1:g.43545751C>T	GRCh37
NC_000015.8:g.41333043C>T	NCBI36
NG_016124.1:g.18305G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220420.10:c.637G>A MANE Select	ENSP00000220420.5:p.Ala213Thr
ENST00000635871.1:n.106G>A
ENST00000220420.9:c.637G>A	ENSP00000220420.5:p.Ala213Thr
ENST00000349114.8:c.391G>A	ENSP00000220419.8:p.Ala131Thr
ENST00000610827.4:c.634G>A	ENSP00000479732.1:p.Ala212Thr
ENST00000611276.4:c.388G>A	ENSP00000482542.1:p.Ala130Thr
ENST00000622115.1:c.640G>A	ENSP00000479638.1:p.Ala214Thr
NM_004245.3:c.391G>A	NP_004236.1:p.Ala131Thr
NM_201631.3:c.637G>A	NP_963925.2:p.Ala213Thr
XM_011522229.1:c.637G>A	XP_011520531.1:p.Ala213Thr
XR_931948.1:n.811G>A
NM_004245.4:c.391G>A	NP_004236.1:p.Ala131Thr
NM_201631.4:c.637G>A MANE Select	NP_963925.2:p.Ala213Thr