Canonical Allele Identifier: CA463012876
Gene: TG HGNC NCBI

Linked Data

ClinVar Variation Id: 2888117
ClinVar RCV Id: RCV003724703
MyVariant Identifiers: chr8:g.133984078C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.132971833C>T , CM000670.2:g.132971833C>T GRCh38
NC_000008.10:g.133984078C>T , CM000670.1:g.133984078C>T GRCh37
NC_000008.9:g.134053260C>T NCBI36
NG_015832.1:g.109874C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000220616.9:c.6015C>T MANE Select ENSP00000220616.4:p.Cys2005=
ENST00000220616.8:c.6015C>T ENSP00000220616.4:p.Cys2005=
ENST00000519178.5:c.1381C>T
ENST00000519294.5:n.7C>T
ENST00000519543.5:c.477C>T ENSP00000430430.1:p.Cys159=
ENST00000520089.5:n.124C>T
ENST00000520197.5:n.152C>T
ENST00000523756.5:c.2670C>T
NM_003235.4:c.6015C>T NP_003226.4:p.Cys2005=
XM_005251038.3:c.5823C>T XP_005251095.1:p.Cys1941=
XM_005251040.3:c.6015C>T XP_005251097.1:p.Cys2005=
XM_005251042.3:c.6015C>T XP_005251099.1:p.Cys2005=
XM_005251043.3:c.6015C>T XP_005251100.1:p.Cys2005=
XM_006716622.2:c.6015C>T XP_006716685.1:p.Cys2005=
XM_005251038.4:c.5823C>T XP_005251095.1:p.Cys1941=
XM_005251040.4:c.6015C>T XP_005251097.1:p.Cys2005=
XM_005251042.4:c.6015C>T XP_005251099.1:p.Cys2005=
XM_006716622.3:c.6015C>T XP_006716685.1:p.Cys2005=
XM_017013793.1:c.5949C>T XP_016869282.1:p.Cys1983=
XM_017013794.1:c.6015C>T XP_016869283.1:p.Cys2005=
XM_017013795.1:c.5844C>T XP_016869284.1:p.Cys1948=
XM_017013796.1:c.5796C>T XP_016869285.1:p.Cys1932=
XM_017013797.1:c.5754C>T XP_016869286.1:p.Cys1918=
XM_017013798.1:c.6015C>T XP_016869287.1:p.Cys2005=
XM_017013799.1:c.6015C>T XP_016869288.1:p.Cys2005=
XM_017013800.1:c.6015C>T XP_016869289.1:p.Cys2005=
NM_003235.5:c.6015C>T MANE Select NP_003226.4:p.Cys2005=