Canonical Allele Identifier: CA754072950

Gene: TYMP

Linked Data

• ClinVar Variation Id: 2996142
• ClinVar RCV Id: RCV003856293
• dbSNP Id: rs1227595653
• gnomAD v3: 22-50526564-C-T
• gnomAD v4: 22-50526564-C-T
• MyVariant Identifiers: chr22:g.50964993C>T (hg19) ; chr22:g.50526564C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50526564C>T , CM000684.2:g.50526564C>T	GRCh38
NC_000022.10:g.50964993C>T , CM000684.1:g.50964993C>T	GRCh37
NC_000022.9:g.49311859C>T	NCBI36
NG_011860.1:g.8522G>A , LRG_727:g.8522G>A
NG_016235.1:g.4876G>A
NG_021419.1:g.23349C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000252029.8:c.928+12G>A MANE Select	ENSP00000252029.3:n.928+12G>A
ENST00000395680.6:c.928+12G>A	ENSP00000379037.1:n.928+12G>A
ENST00000395681.6:c.928+12G>A	ENSP00000379038.1:n.928+12G>A
ENST00000650719.1:c.809+12G>A	ENSP00000498276.1:n.809+12G>A
ENST00000651401.1:c.412+12G>A	ENSP00000499115.1:n.412+12G>A
ENST00000652401.1:c.429+12G>A
ENST00000252029.7:c.928+12G>A	ENSP00000252029.3:n.928+12G>A
ENST00000395678.7:c.928+12G>A	ENSP00000379036.3:n.928+12G>A
ENST00000395680.5:c.928+12G>A	ENSP00000379037.1:n.928+12G>A
ENST00000395681.5:c.928+12G>A	ENSP00000379038.1:n.928+12G>A
ENST00000425169.1:c.829+12G>A	ENSP00000395875.1:n.829+12G>A
ENST00000476284.1:n.934+12G>A
ENST00000487577.5:n.1215+12G>A
NM_001113755.2:c.928+12G>A	NP_001107227.1:n.928+12G>A
NM_001113756.2:c.928+12G>A	NP_001107228.1:n.928+12G>A
NM_001257988.1:c.928+12G>A , LRG_727t1:c.928+12G>A	NP_001244917.1:n.928+12G>A
NM_001257989.1:c.928+12G>A , LRG_727t2:c.928+12G>A	NP_001244918.1:n.928+12G>A
NM_001953.4:c.928+12G>A	NP_001944.1:n.928+12G>A
NM_001113755.3:c.928+12G>A	NP_001107227.1:n.928+12G>A
NM_001113756.3:c.928+12G>A	NP_001107228.1:n.928+12G>A
NM_001953.5:c.928+12G>A MANE Select	NP_001944.1:n.928+12G>A