Canonical Allele Identifier: CA4885883

Gene: TG

Linked Data

• dbSNP Id: rs376496042
• ExAC: 8:134145781 G / C
• gnomAD v2: 8-134145781-G-C
• gnomAD v3: 8-133133537-G-C
• gnomAD v4: 8-133133537-G-C
• MyVariant Identifiers: chr8:g.134145781G>C (hg19) ; chr8:g.133133537G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.133133537G>C , CM000670.2:g.133133537G>C	GRCh38
NC_000008.10:g.134145781G>C , CM000670.1:g.134145781G>C	GRCh37
NC_000008.9:g.134214963G>C	NCBI36
NG_015832.1:g.271577G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220616.9:c.8065G>C MANE Select	ENSP00000220616.4:p.Val2689Leu
ENST00000220616.8:c.8065G>C	ENSP00000220616.4:p.Val2689Leu
ENST00000519178.5:c.3431G>C
ENST00000519543.5:c.2464G>C	ENSP00000430430.1:p.Val822Leu
ENST00000521107.1:c.277G>C	ENSP00000430161.1:p.Val93Leu
ENST00000522691.1:n.151G>C
ENST00000523756.5:c.4720G>C
NM_003235.4:c.8065G>C	NP_003226.4:p.Val2689Leu
XM_005251038.3:c.7873G>C	XP_005251095.1:p.Val2625Leu
XM_006716622.2:c.8002G>C	XP_006716685.1:p.Val2668Leu
XM_005251038.4:c.7873G>C	XP_005251095.1:p.Val2625Leu
XM_006716622.3:c.8002G>C	XP_006716685.1:p.Val2668Leu
XM_017013793.1:c.7999G>C	XP_016869282.1:p.Val2667Leu
XM_017013794.1:c.7930G>C	XP_016869283.1:p.Val2644Leu
XM_017013795.1:c.7894G>C	XP_016869284.1:p.Val2632Leu
XM_017013796.1:c.7846G>C	XP_016869285.1:p.Val2616Leu
XM_017013797.1:c.7804G>C	XP_016869286.1:p.Val2602Leu
NM_003235.5:c.8065G>C MANE Select	NP_003226.4:p.Val2689Leu