Canonical Allele Identifier: CA2628101235

Gene: TGM5

Linked Data

• gnomAD v4: 15-43253457-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43253457G>C , CM000677.2:g.43253457G>C	GRCh38
NC_000015.9:g.43545655G>C , CM000677.1:g.43545655G>C	GRCh37
NC_000015.8:g.41332947G>C	NCBI36
NG_016124.1:g.18401C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220420.10:c.684+49C>G MANE Select	ENSP00000220420.5:n.684+49C>G
ENST00000635871.1:n.153+49C>G
ENST00000220420.9:c.684+49C>G	ENSP00000220420.5:n.684+49C>G
ENST00000349114.8:c.438+49C>G	ENSP00000220419.8:n.438+49C>G
ENST00000610827.4:c.681+49C>G	ENSP00000479732.1:n.681+49C>G
ENST00000611276.4:c.435+49C>G	ENSP00000482542.1:n.435+49C>G
ENST00000622115.1:c.687+49C>G	ENSP00000479638.1:n.687+49C>G
NM_004245.3:c.438+49C>G	NP_004236.1:n.438+49C>G
NM_201631.3:c.684+49C>G	NP_963925.2:n.684+49C>G
XM_011522229.1:c.684+49C>G	XP_011520531.1:n.684+49C>G
XR_931948.1:n.858+49C>G
NM_004245.4:c.438+49C>G	NP_004236.1:n.438+49C>G
NM_201631.4:c.684+49C>G MANE Select	NP_963925.2:n.684+49C>G