Canonical Allele Identifier: CA4885895

Gene: TG

Linked Data

• dbSNP Id: rs777256258
• ExAC: 8:134145827 T / A
• gnomAD v2: 8-134145827-T-A
• gnomAD v4: 8-133133583-T-A
• MyVariant Identifiers: chr8:g.134145827T>A (hg19) ; chr8:g.133133583T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.133133583T>A , CM000670.2:g.133133583T>A	GRCh38
NC_000008.10:g.134145827T>A , CM000670.1:g.134145827T>A	GRCh37
NC_000008.9:g.134215009T>A	NCBI36
NG_015832.1:g.271623T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220616.9:c.8111T>A MANE Select	ENSP00000220616.4:p.Leu2704His
ENST00000220616.8:c.8111T>A	ENSP00000220616.4:p.Leu2704His
ENST00000519178.5:c.3477T>A
ENST00000519543.5:c.2510T>A	ENSP00000430430.1:p.Leu837His
ENST00000521107.1:c.323T>A	ENSP00000430161.1:p.Leu108His
ENST00000522691.1:n.197T>A
ENST00000523756.5:c.4766T>A
NM_003235.4:c.8111T>A	NP_003226.4:p.Leu2704His
XM_005251038.3:c.7919T>A	XP_005251095.1:p.Leu2640His
XM_006716622.2:c.8048T>A	XP_006716685.1:p.Leu2683His
XM_005251038.4:c.7919T>A	XP_005251095.1:p.Leu2640His
XM_006716622.3:c.8048T>A	XP_006716685.1:p.Leu2683His
XM_017013793.1:c.8045T>A	XP_016869282.1:p.Leu2682His
XM_017013794.1:c.7976T>A	XP_016869283.1:p.Leu2659His
XM_017013795.1:c.7940T>A	XP_016869284.1:p.Leu2647His
XM_017013796.1:c.7892T>A	XP_016869285.1:p.Leu2631His
XM_017013797.1:c.7850T>A	XP_016869286.1:p.Leu2617His
NM_003235.5:c.8111T>A MANE Select	NP_003226.4:p.Leu2704His