Canonical Allele Identifier: CA2657565333

Gene: TYMP

Linked Data

• ClinVar Variation Id: 2842159
• ClinVar RCV Id: RCV003721331
• gnomAD v4: 22-50526568-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50526568C>A , CM000684.2:g.50526568C>A	GRCh38
NC_000022.10:g.50964997C>A , CM000684.1:g.50964997C>A	GRCh37
NC_000022.9:g.49311863C>A	NCBI36
NG_011860.1:g.8518G>T , LRG_727:g.8518G>T
NG_016235.1:g.4872G>T
NG_021419.1:g.23353C>A

Transcript Alleles

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