Canonical Allele Identifier: CA372233907
Gene: TG HGNC NCBI

Linked Data

ClinVar Variation Id: 2317372
ClinVar RCV Id: RCV002919751

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.133017985C>A , CM000670.2:g.133017985C>A GRCh38
NC_000008.10:g.134030230C>A , CM000670.1:g.134030230C>A GRCh37
NC_000008.9:g.134099412C>A NCBI36
NG_015832.1:g.156026C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000220616.9:c.6770C>A MANE Select ENSP00000220616.4:p.Ala2257Asp
ENST00000220616.8:c.6770C>A ENSP00000220616.4:p.Ala2257Asp
ENST00000518108.1:c.168+119C>A
ENST00000519178.5:c.2136C>A
ENST00000519543.5:c.1169C>A ENSP00000430430.1:p.Ala390Asp
ENST00000523756.5:c.3425C>A
NM_003235.4:c.6770C>A NP_003226.4:p.Ala2257Asp
XM_005251038.3:c.6578C>A XP_005251095.1:p.Ala2193Asp
XM_006716622.2:c.6707C>A XP_006716685.1:p.Ala2236Asp
XM_005251038.4:c.6578C>A XP_005251095.1:p.Ala2193Asp
XM_006716622.3:c.6707C>A XP_006716685.1:p.Ala2236Asp
XM_017013793.1:c.6704C>A XP_016869282.1:p.Ala2235Asp
XM_017013794.1:c.6770C>A XP_016869283.1:p.Ala2257Asp
XM_017013795.1:c.6599C>A XP_016869284.1:p.Ala2200Asp
XM_017013796.1:c.6551C>A XP_016869285.1:p.Ala2184Asp
XM_017013797.1:c.6509C>A XP_016869286.1:p.Ala2170Asp
XM_017013798.1:c.6770C>A XP_016869287.1:p.Ala2257Asp
NM_003235.5:c.6770C>A MANE Select NP_003226.4:p.Ala2257Asp