Canonical Allele Identifier: CA353230960

Gene: TKT

Linked Data

• dbSNP Id: rs782423189
• gnomAD v4: 3-53228287-C-G
• MyVariant Identifiers: chr3:g.53262303C>G (hg19) ; chr3:g.53228287C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53228287C>G , CM000665.2:g.53228287C>G	GRCh38
NC_000003.11:g.53262303C>G , CM000665.1:g.53262303C>G	GRCh37
NC_000003.10:g.53237343C>G	NCBI36
NG_027815.1:g.32828G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000462138.6:c.1468G>C MANE Select	ENSP00000417773.1:p.Gly490Arg
ENST00000296289.10:c.970G>C	ENSP00000296289.7:p.Gly324Arg
ENST00000423516.5:c.1492G>C	ENSP00000391481.1:p.Gly498Arg
ENST00000423525.6:c.1468G>C	ENSP00000405455.2:p.Gly490Arg
ENST00000450814.6:c.*896G>C	ENSP00000413503.2:n.*896G>C
ENST00000460343.5:n.4777G>C
ENST00000461139.5:n.1469G>C
ENST00000462138.5:c.1468G>C	ENSP00000417773.1:p.Gly490Arg
ENST00000469678.1:c.*470G>C	ENSP00000418340.1:n.*470G>C
NM_001064.3:c.1468G>C	NP_001055.1:p.Gly490Arg
NM_001135055.2:c.1468G>C	NP_001128527.1:p.Gly490Arg
NM_001258028.1:c.1492G>C	NP_001244957.1:p.Gly498Arg
NR_047580.1:n.1530G>C
XM_011534054.1:c.1492G>C	XP_011532356.1:p.Gly498Arg
XM_011534055.1:c.970G>C	XP_011532357.1:p.Gly324Arg
XM_011534055.2:c.970G>C	XP_011532357.1:p.Gly324Arg
NM_001064.4:c.1468G>C MANE Select	NP_001055.1:p.Gly490Arg
NM_001135055.3:c.1468G>C	NP_001128527.1:p.Gly490Arg
NM_001258028.2:c.1492G>C	NP_001244957.1:p.Gly498Arg
NR_047580.2:n.1438G>C