Canonical Allele Identifier: CA2452930

Gene: TKT

Linked Data

• ClinVar Variation Id: 445900
• ClinVar RCV Id: RCV000514273
• dbSNP Id: rs180704294
• ExAC: 3:53275145 T / G
• gnomAD v2: 3-53275145-T-G
• gnomAD v3: 3-53241129-T-G
• gnomAD v4: 3-53241129-T-G
• MyVariant Identifiers: chr3:g.53275145T>G (hg19) ; chr3:g.53241129T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53241129T>G , CM000665.2:g.53241129T>G	GRCh38
NC_000003.11:g.53275145T>G , CM000665.1:g.53275145T>G	GRCh37
NC_000003.10:g.53250185T>G	NCBI36
NG_027815.1:g.19986A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000462138.6:c.339+3A>C MANE Select	ENSP00000417773.1:n.339+3A>C
ENST00000296289.10:c.-69+21A>C	ENSP00000296289.7:n.-69+21A>C
ENST00000423516.5:c.339+3A>C	ENSP00000391481.1:n.339+3A>C
ENST00000423525.6:c.339+3A>C	ENSP00000405455.2:n.339+3A>C
ENST00000450814.6:c.339+3A>C	ENSP00000413503.2:n.339+3A>C
ENST00000462138.5:c.339+3A>C	ENSP00000417773.1:n.339+3A>C
ENST00000469678.1:c.339+3A>C	ENSP00000418340.1:n.339+3A>C
ENST00000472528.5:c.*133+3A>C	ENSP00000417312.1:n.*133+3A>C
ENST00000487660.1:n.189+3A>C
NM_001064.3:c.339+3A>C	NP_001055.1:n.339+3A>C
NM_001135055.2:c.339+3A>C	NP_001128527.1:n.339+3A>C
NM_001258028.1:c.339+3A>C	NP_001244957.1:n.339+3A>C
NR_047580.1:n.511+3A>C
XM_011534054.1:c.339+3A>C	XP_011532356.1:n.339+3A>C
XM_011534055.1:c.-285+3A>C	XP_011532357.1:n.-285+3A>C
XM_011534055.2:c.-285+3A>C	XP_011532357.1:n.-285+3A>C
NM_001064.4:c.339+3A>C MANE Select	NP_001055.1:n.339+3A>C
NM_001135055.3:c.339+3A>C	NP_001128527.1:n.339+3A>C
NM_001258028.2:c.339+3A>C	NP_001244957.1:n.339+3A>C
NR_047580.2:n.419+3A>C