Canonical Allele Identifier: CA2841618288

Gene: TGM5

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43253483C>G , CM000677.2:g.43253483C>G	GRCh38
NC_000015.9:g.43545681C>G , CM000677.1:g.43545681C>G	GRCh37
NC_000015.8:g.41332973C>G	NCBI36
NG_016124.1:g.18375G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220420.10:c.684+23G>C MANE Select	ENSP00000220420.5:n.684+23G>C
ENST00000635871.1:n.153+23G>C
ENST00000220420.9:c.684+23G>C	ENSP00000220420.5:n.684+23G>C
ENST00000349114.8:c.438+23G>C	ENSP00000220419.8:n.438+23G>C
ENST00000610827.4:c.681+23G>C	ENSP00000479732.1:n.681+23G>C
ENST00000611276.4:c.435+23G>C	ENSP00000482542.1:n.435+23G>C
ENST00000622115.1:c.687+23G>C	ENSP00000479638.1:n.687+23G>C
NM_004245.3:c.438+23G>C	NP_004236.1:n.438+23G>C
NM_201631.3:c.684+23G>C	NP_963925.2:n.684+23G>C
XM_011522229.1:c.684+23G>C	XP_011520531.1:n.684+23G>C
XR_931948.1:n.858+23G>C
NM_004245.4:c.438+23G>C	NP_004236.1:n.438+23G>C
NM_201631.4:c.684+23G>C MANE Select	NP_963925.2:n.684+23G>C