Canonical Allele Identifier: CA2628101232

Gene: TGM5

Linked Data

• gnomAD v4: 15-43253456-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43253456G>T , CM000677.2:g.43253456G>T	GRCh38
NC_000015.9:g.43545654G>T , CM000677.1:g.43545654G>T	GRCh37
NC_000015.8:g.41332946G>T	NCBI36
NG_016124.1:g.18402C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220420.10:c.684+50C>A MANE Select	ENSP00000220420.5:n.684+50C>A
ENST00000635871.1:n.153+50C>A
ENST00000220420.9:c.684+50C>A	ENSP00000220420.5:n.684+50C>A
ENST00000349114.8:c.438+50C>A	ENSP00000220419.8:n.438+50C>A
ENST00000610827.4:c.681+50C>A	ENSP00000479732.1:n.681+50C>A
ENST00000611276.4:c.435+50C>A	ENSP00000482542.1:n.435+50C>A
ENST00000622115.1:c.687+50C>A	ENSP00000479638.1:n.687+50C>A
NM_004245.3:c.438+50C>A	NP_004236.1:n.438+50C>A
NM_201631.3:c.684+50C>A	NP_963925.2:n.684+50C>A
XM_011522229.1:c.684+50C>A	XP_011520531.1:n.684+50C>A
XR_931948.1:n.858+50C>A
NM_004245.4:c.438+50C>A	NP_004236.1:n.438+50C>A
NM_201631.4:c.684+50C>A MANE Select	NP_963925.2:n.684+50C>A