Canonical Allele Identifier: CA2628101537

Gene: TGM5

Linked Data

• gnomAD v4: 15-43253753-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43253753C>A , CM000677.2:g.43253753C>A	GRCh38
NC_000015.9:g.43545951C>A , CM000677.1:g.43545951C>A	GRCh37
NC_000015.8:g.41333243C>A	NCBI36
NG_016124.1:g.18105G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220420.10:c.556-119G>T MANE Select	ENSP00000220420.5:n.556-119G>T
ENST00000220420.9:c.556-119G>T	ENSP00000220420.5:n.556-119G>T
ENST00000349114.8:c.310-119G>T	ENSP00000220419.8:n.310-119G>T
ENST00000610827.4:c.553-119G>T	ENSP00000479732.1:n.553-119G>T
ENST00000611276.4:c.307-119G>T	ENSP00000482542.1:n.307-119G>T
ENST00000622115.1:c.559-119G>T	ENSP00000479638.1:n.559-119G>T
NM_004245.3:c.310-119G>T	NP_004236.1:n.310-119G>T
NM_201631.3:c.556-119G>T	NP_963925.2:n.556-119G>T
XM_011522229.1:c.556-119G>T	XP_011520531.1:n.556-119G>T
XR_931948.1:n.730-119G>T
NM_004245.4:c.310-119G>T	NP_004236.1:n.310-119G>T
NM_201631.4:c.556-119G>T MANE Select	NP_963925.2:n.556-119G>T