Canonical Allele Identifier: CA4885915

Gene: TG

Linked Data

• dbSNP Id: rs781042173
• ExAC: 8:134145899 C / T
• gnomAD v2: 8-134145899-C-T
• gnomAD v3: 8-133133655-C-T
• gnomAD v4: 8-133133655-C-T
• MyVariant Identifiers: chr8:g.134145899C>T (hg19) ; chr8:g.133133655C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.133133655C>T , CM000670.2:g.133133655C>T	GRCh38
NC_000008.10:g.134145899C>T , CM000670.1:g.134145899C>T	GRCh37
NC_000008.9:g.134215081C>T	NCBI36
NG_015832.1:g.271695C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220616.9:c.8183C>T MANE Select	ENSP00000220616.4:p.Ser2728Phe
ENST00000220616.8:c.8183C>T	ENSP00000220616.4:p.Ser2728Phe
ENST00000519178.5:c.3549C>T
ENST00000519543.5:c.2582C>T	ENSP00000430430.1:p.Ser861Phe
ENST00000521107.1:c.395C>T	ENSP00000430161.1:p.Ser132Phe
ENST00000522691.1:n.269C>T
ENST00000523756.5:c.4838C>T
NM_003235.4:c.8183C>T	NP_003226.4:p.Ser2728Phe
XM_005251038.3:c.7991C>T	XP_005251095.1:p.Ser2664Phe
XM_006716622.2:c.8120C>T	XP_006716685.1:p.Ser2707Phe
XM_005251038.4:c.7991C>T	XP_005251095.1:p.Ser2664Phe
XM_006716622.3:c.8120C>T	XP_006716685.1:p.Ser2707Phe
XM_017013793.1:c.8117C>T	XP_016869282.1:p.Ser2706Phe
XM_017013794.1:c.8048C>T	XP_016869283.1:p.Ser2683Phe
XM_017013795.1:c.8012C>T	XP_016869284.1:p.Ser2671Phe
XM_017013796.1:c.7964C>T	XP_016869285.1:p.Ser2655Phe
XM_017013797.1:c.7922C>T	XP_016869286.1:p.Ser2641Phe
NM_003235.5:c.8183C>T MANE Select	NP_003226.4:p.Ser2728Phe