Canonical Allele Identifier: CA186356975

Gene: TG

Linked Data

• ClinVar Variation Id: 3006639
• ClinVar RCV Id: RCV003861254
• dbSNP Id: rs897123131
• gnomAD v3: 8-133133656-T-G
• gnomAD v4: 8-133133656-T-G
• MyVariant Identifiers: chr8:g.134145900T>G (hg19) ; chr8:g.133133656T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.133133656T>G , CM000670.2:g.133133656T>G	GRCh38
NC_000008.10:g.134145900T>G , CM000670.1:g.134145900T>G	GRCh37
NC_000008.9:g.134215082T>G	NCBI36
NG_015832.1:g.271696T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220616.9:c.8184T>G MANE Select	ENSP00000220616.4:p.Ser2728=
ENST00000220616.8:c.8184T>G	ENSP00000220616.4:p.Ser2728=
ENST00000519178.5:c.3550T>G
ENST00000519543.5:c.2583T>G	ENSP00000430430.1:p.Ser861=
ENST00000521107.1:c.396T>G	ENSP00000430161.1:p.Ser132=
ENST00000522691.1:n.270T>G
ENST00000523756.5:c.4839T>G
NM_003235.4:c.8184T>G	NP_003226.4:p.Ser2728=
XM_005251038.3:c.7992T>G	XP_005251095.1:p.Ser2664=
XM_006716622.2:c.8121T>G	XP_006716685.1:p.Ser2707=
XM_005251038.4:c.7992T>G	XP_005251095.1:p.Ser2664=
XM_006716622.3:c.8121T>G	XP_006716685.1:p.Ser2707=
XM_017013793.1:c.8118T>G	XP_016869282.1:p.Ser2706=
XM_017013794.1:c.8049T>G	XP_016869283.1:p.Ser2683=
XM_017013795.1:c.8013T>G	XP_016869284.1:p.Ser2671=
XM_017013796.1:c.7965T>G	XP_016869285.1:p.Ser2655=
XM_017013797.1:c.7923T>G	XP_016869286.1:p.Ser2641=
NM_003235.5:c.8184T>G MANE Select	NP_003226.4:p.Ser2728=