Canonical Allele Identifier: CA372253195
Gene: TG HGNC NCBI

Linked Data

ClinVar Variation Id: 2606762
ClinVar RCV Id: RCV003369346

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.133133528C>A , CM000670.2:g.133133528C>A GRCh38
NC_000008.10:g.134145772C>A , CM000670.1:g.134145772C>A GRCh37
NC_000008.9:g.134214954C>A NCBI36
NG_015832.1:g.271568C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000220616.9:c.8056C>A MANE Select ENSP00000220616.4:p.Pro2686Thr
ENST00000220616.8:c.8056C>A ENSP00000220616.4:p.Pro2686Thr
ENST00000519178.5:c.3422C>A
ENST00000519543.5:c.2455C>A ENSP00000430430.1:p.Pro819Thr
ENST00000521107.1:c.268C>A ENSP00000430161.1:p.Pro90Thr
ENST00000522691.1:n.142C>A
ENST00000523756.5:c.4711C>A
NM_003235.4:c.8056C>A NP_003226.4:p.Pro2686Thr
XM_005251038.3:c.7864C>A XP_005251095.1:p.Pro2622Thr
XM_006716622.2:c.7993C>A XP_006716685.1:p.Pro2665Thr
XM_005251038.4:c.7864C>A XP_005251095.1:p.Pro2622Thr
XM_006716622.3:c.7993C>A XP_006716685.1:p.Pro2665Thr
XM_017013793.1:c.7990C>A XP_016869282.1:p.Pro2664Thr
XM_017013794.1:c.7921C>A XP_016869283.1:p.Pro2641Thr
XM_017013795.1:c.7885C>A XP_016869284.1:p.Pro2629Thr
XM_017013796.1:c.7837C>A XP_016869285.1:p.Pro2613Thr
XM_017013797.1:c.7795C>A XP_016869286.1:p.Pro2599Thr
NM_003235.5:c.8056C>A MANE Select NP_003226.4:p.Pro2686Thr