Canonical Allele Identifier: CA11405408
Gene: TKT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.53248287A>G , CM000665.2:g.53248287A>G GRCh38
NC_000003.11:g.53282303A>G , CM000665.1:g.53282303A>G GRCh37
NC_000003.10:g.53257343A>G NCBI36
NG_027815.1:g.12828T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000462138.6:c.108-6045T>C MANE Select ENSP00000417773.1:n.108-6045T>C
ENST00000296289.10:c.-282-6045T>C ENSP00000296289.7:n.-282-6045T>C
ENST00000423516.5:c.108-6045T>C ENSP00000391481.1:n.108-6045T>C
ENST00000423525.6:c.108-6045T>C ENSP00000405455.2:n.108-6045T>C
ENST00000450814.6:c.108-6045T>C ENSP00000413503.2:n.108-6045T>C
ENST00000462138.5:c.108-6045T>C ENSP00000417773.1:n.108-6045T>C
ENST00000469678.1:c.108-6045T>C ENSP00000418340.1:n.108-6045T>C
ENST00000472528.5:c.108-4665T>C ENSP00000417312.1:n.108-4665T>C
ENST00000483706.1:n.218-6045T>C
NM_001064.3:c.108-6045T>C NP_001055.1:n.108-6045T>C
NM_001135055.2:c.108-6045T>C NP_001128527.1:n.108-6045T>C
NM_001258028.1:c.108-6045T>C NP_001244957.1:n.108-6045T>C
NR_047580.1:n.280-6045T>C
XM_011534054.1:c.108-6045T>C XP_011532356.1:n.108-6045T>C
XM_011534055.1:c.-516-6045T>C XP_011532357.1:n.-516-6045T>C
XM_011534055.2:c.-516-6045T>C XP_011532357.1:n.-516-6045T>C
NM_001064.4:c.108-6045T>C MANE Select NP_001055.1:n.108-6045T>C
NM_001135055.3:c.108-6045T>C NP_001128527.1:n.108-6045T>C
NM_001258028.2:c.108-6045T>C NP_001244957.1:n.108-6045T>C
NR_047580.2:n.188-6045T>C