Canonical Allele Identifier: CA372233798

Gene: TG

Linked Data

• gnomAD v4: 8-133017952-C-T
• MyVariant Identifiers: chr8:g.134030197C>T (hg19) ; chr8:g.133017952C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.133017952C>T , CM000670.2:g.133017952C>T	GRCh38
NC_000008.10:g.134030197C>T , CM000670.1:g.134030197C>T	GRCh37
NC_000008.9:g.134099379C>T	NCBI36
NG_015832.1:g.155993C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220616.9:c.6737C>T MANE Select	ENSP00000220616.4:p.Pro2246Leu
ENST00000220616.8:c.6737C>T	ENSP00000220616.4:p.Pro2246Leu
ENST00000518108.1:c.168+86C>T
ENST00000519178.5:c.2103C>T
ENST00000519543.5:c.1136C>T	ENSP00000430430.1:p.Pro379Leu
ENST00000522523.5:n.798C>T
ENST00000523756.5:c.3392C>T
NM_003235.4:c.6737C>T	NP_003226.4:p.Pro2246Leu
XM_005251038.3:c.6545C>T	XP_005251095.1:p.Pro2182Leu
XM_006716622.2:c.6674C>T	XP_006716685.1:p.Pro2225Leu
XM_005251038.4:c.6545C>T	XP_005251095.1:p.Pro2182Leu
XM_006716622.3:c.6674C>T	XP_006716685.1:p.Pro2225Leu
XM_017013793.1:c.6671C>T	XP_016869282.1:p.Pro2224Leu
XM_017013794.1:c.6737C>T	XP_016869283.1:p.Pro2246Leu
XM_017013795.1:c.6566C>T	XP_016869284.1:p.Pro2189Leu
XM_017013796.1:c.6518C>T	XP_016869285.1:p.Pro2173Leu
XM_017013797.1:c.6476C>T	XP_016869286.1:p.Pro2159Leu
XM_017013798.1:c.6737C>T	XP_016869287.1:p.Pro2246Leu
NM_003235.5:c.6737C>T MANE Select	NP_003226.4:p.Pro2246Leu