Canonical Allele Identifier: CA210826

Gene: TG

Linked Data

• ClinVar Variation Id: 208619
• ClinVar RCV Id: RCV003546488
• dbSNP Id: rs199599591
• ExAC: 8:133953738 C / A
• gnomAD v2: 8-133953738-C-A
• gnomAD v3: 8-132941493-C-A
• gnomAD v4: 8-132941493-C-A
• MyVariant Identifiers: chr8:g.133953738C>A (hg19) ; chr8:g.132941493C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132941493C>A , CM000670.2:g.132941493C>A	GRCh38
NC_000008.10:g.133953738C>A , CM000670.1:g.133953738C>A	GRCh37
NC_000008.9:g.134022920C>A	NCBI36
NG_015832.1:g.79534C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000220616.9:c.5184C>A MANE Select	ENSP00000220616.4:p.Cys1728Ter
ENST00000220616.8:c.5184C>A	ENSP00000220616.4:p.Cys1728Ter
ENST00000519178.5:c.599+5629C>A
ENST00000523756.5:c.1839C>A
NM_003235.4:c.5184C>A	NP_003226.4:p.Cys1728Ter
XM_005251038.3:c.5041+5629C>A	XP_005251095.1:n.5041+5629C>A
XM_005251040.3:c.5184C>A	XP_005251097.1:p.Cys1728Ter
XM_005251042.3:c.5184C>A	XP_005251099.1:p.Cys1728Ter
XM_005251043.3:c.5184C>A	XP_005251100.1:p.Cys1728Ter
XM_006716622.2:c.5184C>A	XP_006716685.1:p.Cys1728Ter
XM_005251038.4:c.5041+5629C>A	XP_005251095.1:n.5041+5629C>A
XM_005251040.4:c.5184C>A	XP_005251097.1:p.Cys1728Ter
XM_005251042.4:c.5184C>A	XP_005251099.1:p.Cys1728Ter
XM_006716622.3:c.5184C>A	XP_006716685.1:p.Cys1728Ter
XM_017013793.1:c.5184C>A	XP_016869282.1:p.Cys1728Ter
XM_017013794.1:c.5184C>A	XP_016869283.1:p.Cys1728Ter
XM_017013795.1:c.5013C>A	XP_016869284.1:p.Cys1671Ter
XM_017013796.1:c.4965C>A	XP_016869285.1:p.Cys1655Ter
XM_017013797.1:c.4923C>A	XP_016869286.1:p.Cys1641Ter
XM_017013798.1:c.5184C>A	XP_016869287.1:p.Cys1728Ter
XM_017013799.1:c.5184C>A	XP_016869288.1:p.Cys1728Ter
XM_017013800.1:c.5184C>A	XP_016869289.1:p.Cys1728Ter
NM_003235.5:c.5184C>A MANE Select	NP_003226.4:p.Cys1728Ter