Canonical Allele Identifier: CA372253356
Gene: TG HGNC NCBI

Linked Data

ClinVar Variation Id: 2302793
ClinVar RCV Id: RCV002869583

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.133133567G>A , CM000670.2:g.133133567G>A GRCh38
NC_000008.10:g.134145811G>A , CM000670.1:g.134145811G>A GRCh37
NC_000008.9:g.134214993G>A NCBI36
NG_015832.1:g.271607G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000220616.9:c.8095G>A MANE Select ENSP00000220616.4:p.Glu2699Lys
ENST00000220616.8:c.8095G>A ENSP00000220616.4:p.Glu2699Lys
ENST00000519178.5:c.3461G>A
ENST00000519543.5:c.2494G>A ENSP00000430430.1:p.Glu832Lys
ENST00000521107.1:c.307G>A ENSP00000430161.1:p.Glu103Lys
ENST00000522691.1:n.181G>A
ENST00000523756.5:c.4750G>A
NM_003235.4:c.8095G>A NP_003226.4:p.Glu2699Lys
XM_005251038.3:c.7903G>A XP_005251095.1:p.Glu2635Lys
XM_006716622.2:c.8032G>A XP_006716685.1:p.Glu2678Lys
XM_005251038.4:c.7903G>A XP_005251095.1:p.Glu2635Lys
XM_006716622.3:c.8032G>A XP_006716685.1:p.Glu2678Lys
XM_017013793.1:c.8029G>A XP_016869282.1:p.Glu2677Lys
XM_017013794.1:c.7960G>A XP_016869283.1:p.Glu2654Lys
XM_017013795.1:c.7924G>A XP_016869284.1:p.Glu2642Lys
XM_017013796.1:c.7876G>A XP_016869285.1:p.Glu2626Lys
XM_017013797.1:c.7834G>A XP_016869286.1:p.Glu2612Lys
NM_003235.5:c.8095G>A MANE Select NP_003226.4:p.Glu2699Lys