Canonical Allele Identifier: CA353230773

Gene: TKT

Linked Data

• ClinVar Variation Id: 2285348
• ClinVar RCV Id: RCV004136693
• MyVariant Identifiers: chr3:g.53262125C>A (hg19) ; chr3:g.53228109C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53228109C>A , CM000665.2:g.53228109C>A	GRCh38
NC_000003.11:g.53262125C>A , CM000665.1:g.53262125C>A	GRCh37
NC_000003.10:g.53237165C>A	NCBI36
NG_027815.1:g.33006G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000462138.6:c.1520G>T MANE Select	ENSP00000417773.1:p.Gly507Val
ENST00000296289.10:c.1022G>T	ENSP00000296289.7:p.Gly341Val
ENST00000423516.5:c.1544G>T	ENSP00000391481.1:p.Gly515Val
ENST00000423525.6:c.1520G>T	ENSP00000405455.2:p.Gly507Val
ENST00000450814.6:c.*948G>T	ENSP00000413503.2:n.*948G>T
ENST00000460343.5:n.4829G>T
ENST00000461139.5:n.1521G>T
ENST00000462138.5:c.1520G>T	ENSP00000417773.1:p.Gly507Val
ENST00000469678.1:c.*481+167G>T	ENSP00000418340.1:n.*481+167G>T
NM_001064.3:c.1520G>T	NP_001055.1:p.Gly507Val
NM_001135055.2:c.1520G>T	NP_001128527.1:p.Gly507Val
NM_001258028.1:c.1544G>T	NP_001244957.1:p.Gly515Val
NR_047580.1:n.1582G>T
XM_011534054.1:c.1544G>T	XP_011532356.1:p.Gly515Val
XM_011534055.1:c.1022G>T	XP_011532357.1:p.Gly341Val
XM_011534055.2:c.1022G>T	XP_011532357.1:p.Gly341Val
NM_001064.4:c.1520G>T MANE Select	NP_001055.1:p.Gly507Val
NM_001135055.3:c.1520G>T	NP_001128527.1:p.Gly507Val
NM_001258028.2:c.1544G>T	NP_001244957.1:p.Gly515Val
NR_047580.2:n.1490G>T