Canonical Allele Identifier: CA7521112

Gene: TGM5

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43239252C>T , CM000677.2:g.43239252C>T	GRCh38
NC_000015.9:g.43531450C>T , CM000677.1:g.43531450C>T	GRCh37
NC_000015.8:g.41318742C>T	NCBI36
NG_016124.1:g.32606G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220420.10:c.1016G>A MANE Select	ENSP00000220420.5:p.Trp339Ter
ENST00000635871.1:n.485G>A
ENST00000220420.9:c.1016G>A	ENSP00000220420.5:p.Trp339Ter
ENST00000349114.8:c.770G>A	ENSP00000220419.8:p.Trp257Ter
ENST00000396996.3:n.492G>A
ENST00000563838.1:n.249G>A
ENST00000610827.4:c.1013G>A	ENSP00000479732.1:p.Trp338Ter
ENST00000611276.4:c.767G>A	ENSP00000482542.1:p.Trp256Ter
ENST00000622115.1:c.1019G>A	ENSP00000479638.1:p.Trp340Ter
NM_004245.3:c.770G>A	NP_004236.1:p.Trp257Ter
NM_201631.3:c.1016G>A	NP_963925.2:p.Trp339Ter
XM_011522229.1:c.1016G>A	XP_011520531.1:p.Trp339Ter
XM_011522230.1:c.-14G>A	XP_011520532.1:n.-14G>A
XR_931948.1:n.1190G>A
XM_011522230.2:c.-14G>A	XP_011520532.1:n.-14G>A
XM_017022729.1:c.-14G>A	XP_016878218.1:n.-14G>A
NM_004245.4:c.770G>A	NP_004236.1:p.Trp257Ter
NM_201631.4:c.1016G>A MANE Select	NP_963925.2:p.Trp339Ter