Canonical Allele Identifier: CA210700
Gene: TG HGNC NCBI

Linked Data

ClinVar Variation Id: 12693
ClinVar RCV Id: RCV000013530
dbSNP Id: rs121912647

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.132906786T>C , CM000670.2:g.132906786T>C GRCh38
NC_000008.10:g.133919031T>C , CM000670.1:g.133919031T>C GRCh37
NC_000008.9:g.133988213T>C NCBI36
NG_015832.1:g.44827T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000220616.9:c.3733T>C MANE Select ENSP00000220616.4:p.Cys1245Arg
ENST00000220616.8:c.3733T>C ENSP00000220616.4:p.Cys1245Arg
ENST00000518505.1:c.564T>C
ENST00000523756.5:c.388T>C
NM_003235.4:c.3733T>C NP_003226.4:p.Cys1245Arg
XM_005251038.3:c.3733T>C XP_005251095.1:p.Cys1245Arg
XM_005251040.3:c.3733T>C XP_005251097.1:p.Cys1245Arg
XM_005251042.3:c.3733T>C XP_005251099.1:p.Cys1245Arg
XM_005251043.3:c.3733T>C XP_005251100.1:p.Cys1245Arg
XM_006716622.2:c.3733T>C XP_006716685.1:p.Cys1245Arg
XM_005251038.4:c.3733T>C XP_005251095.1:p.Cys1245Arg
XM_005251040.4:c.3733T>C XP_005251097.1:p.Cys1245Arg
XM_005251042.4:c.3733T>C XP_005251099.1:p.Cys1245Arg
XM_006716622.3:c.3733T>C XP_006716685.1:p.Cys1245Arg
XM_017013793.1:c.3733T>C XP_016869282.1:p.Cys1245Arg
XM_017013794.1:c.3733T>C XP_016869283.1:p.Cys1245Arg
XM_017013795.1:c.3733T>C XP_016869284.1:p.Cys1245Arg
XM_017013796.1:c.3733T>C XP_016869285.1:p.Cys1245Arg
XM_017013797.1:c.3472T>C XP_016869286.1:p.Cys1158Arg
XM_017013798.1:c.3733T>C XP_016869287.1:p.Cys1245Arg
XM_017013799.1:c.3733T>C XP_016869288.1:p.Cys1245Arg
XM_017013800.1:c.3733T>C XP_016869289.1:p.Cys1245Arg
NM_003235.5:c.3733T>C MANE Select NP_003226.4:p.Cys1245Arg