Canonical Allele Identifier: CA372233993

Gene: TG

Linked Data

• ClinVar Variation Id: 2981202
• ClinVar RCV Id: RCV003832344
• dbSNP Id: rs1450178339
• gnomAD v2: 8-133980047-C-T
• gnomAD v4: 8-132967802-C-T
• MyVariant Identifiers: chr8:g.133980047C>T (hg19) ; chr8:g.132967802C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132967802C>T , CM000670.2:g.132967802C>T	GRCh38
NC_000008.10:g.133980047C>T , CM000670.1:g.133980047C>T	GRCh37
NC_000008.9:g.134049229C>T	NCBI36
NG_015832.1:g.105843C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000220616.9:c.5695C>T MANE Select	ENSP00000220616.4:p.Gln1899Ter
ENST00000220616.8:c.5695C>T	ENSP00000220616.4:p.Gln1899Ter
ENST00000518058.1:c.90C>T
ENST00000519178.5:c.1061C>T
ENST00000519543.5:c.157C>T	ENSP00000430430.1:p.Gln53Ter
ENST00000523756.5:c.2350C>T
NM_003235.4:c.5695C>T	NP_003226.4:p.Gln1899Ter
XM_005251038.3:c.5503C>T	XP_005251095.1:p.Gln1835Ter
XM_005251040.3:c.5695C>T	XP_005251097.1:p.Gln1899Ter
XM_005251042.3:c.5695C>T	XP_005251099.1:p.Gln1899Ter
XM_005251043.3:c.5695C>T	XP_005251100.1:p.Gln1899Ter
XM_006716622.2:c.5695C>T	XP_006716685.1:p.Gln1899Ter
XM_005251038.4:c.5503C>T	XP_005251095.1:p.Gln1835Ter
XM_005251040.4:c.5695C>T	XP_005251097.1:p.Gln1899Ter
XM_005251042.4:c.5695C>T	XP_005251099.1:p.Gln1899Ter
XM_006716622.3:c.5695C>T	XP_006716685.1:p.Gln1899Ter
XM_017013793.1:c.5629C>T	XP_016869282.1:p.Gln1877Ter
XM_017013794.1:c.5695C>T	XP_016869283.1:p.Gln1899Ter
XM_017013795.1:c.5524C>T	XP_016869284.1:p.Gln1842Ter
XM_017013796.1:c.5476C>T	XP_016869285.1:p.Gln1826Ter
XM_017013797.1:c.5434C>T	XP_016869286.1:p.Gln1812Ter
XM_017013798.1:c.5695C>T	XP_016869287.1:p.Gln1899Ter
XM_017013799.1:c.5695C>T	XP_016869288.1:p.Gln1899Ter
XM_017013800.1:c.5695C>T	XP_016869289.1:p.Gln1899Ter
NM_003235.5:c.5695C>T MANE Select	NP_003226.4:p.Gln1899Ter