Canonical Allele Identifier: CA372233909

Gene: TG

Linked Data

• ClinVar Variation Id: 911130
• ClinVar RCV Id: RCV001163433
• dbSNP Id: rs1472210977
• gnomAD v2: 8-134030230-C-T
• gnomAD v3: 8-133017985-C-T
• gnomAD v4: 8-133017985-C-T
• MyVariant Identifiers: chr8:g.134030230C>T (hg19) ; chr8:g.133017985C>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220616.9:c.6770C>T MANE Select	ENSP00000220616.4:p.Ala2257Val
ENST00000220616.8:c.6770C>T	ENSP00000220616.4:p.Ala2257Val
ENST00000518108.1:c.168+119C>T
ENST00000519178.5:c.2136C>T
ENST00000519543.5:c.1169C>T	ENSP00000430430.1:p.Ala390Val
ENST00000523756.5:c.3425C>T
NM_003235.4:c.6770C>T	NP_003226.4:p.Ala2257Val
XM_005251038.3:c.6578C>T	XP_005251095.1:p.Ala2193Val
XM_006716622.2:c.6707C>T	XP_006716685.1:p.Ala2236Val
XM_005251038.4:c.6578C>T	XP_005251095.1:p.Ala2193Val
XM_006716622.3:c.6707C>T	XP_006716685.1:p.Ala2236Val
XM_017013793.1:c.6704C>T	XP_016869282.1:p.Ala2235Val
XM_017013794.1:c.6770C>T	XP_016869283.1:p.Ala2257Val
XM_017013795.1:c.6599C>T	XP_016869284.1:p.Ala2200Val
XM_017013796.1:c.6551C>T	XP_016869285.1:p.Ala2184Val
XM_017013797.1:c.6509C>T	XP_016869286.1:p.Ala2170Val
XM_017013798.1:c.6770C>T	XP_016869287.1:p.Ala2257Val
NM_003235.5:c.6770C>T MANE Select	NP_003226.4:p.Ala2257Val