Canonical Allele Identifier: CA10321689
Gene: TYMP HGNC NCBI
MyVariant.info:
Revel Score:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50527629C>T , CM000684.2:g.50527629C>T GRCh38
NC_000022.10:g.50966058C>T , CM000684.1:g.50966058C>T GRCh37
NC_000022.9:g.49312924C>T NCBI36
NG_011860.1:g.7457G>A , LRG_727:g.7457G>A
NG_016235.1:g.3811G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252029.8:c.605G>A MANE Select ENSP00000252029.3:p.Arg202Lys
ENST00000395680.6:c.605G>A ENSP00000379037.1:p.Arg202Lys
ENST00000395681.6:c.605G>A ENSP00000379038.1:p.Arg202Lys
ENST00000650719.1:c.605G>A ENSP00000498276.1:p.Arg202Lys
ENST00000651401.1:c.89G>A ENSP00000499115.1:p.Arg30Lys
ENST00000651906.1:n.724G>A
ENST00000652352.1:c.316G>A ENSP00000498579.1:p.Glu106Lys
ENST00000652401.1:c.61G>A
ENST00000252029.7:c.605G>A ENSP00000252029.3:p.Arg202Lys
ENST00000395678.7:c.605G>A ENSP00000379036.3:p.Arg202Lys
ENST00000395680.5:c.605G>A ENSP00000379037.1:p.Arg202Lys
ENST00000395681.5:c.605G>A ENSP00000379038.1:p.Arg202Lys
ENST00000425169.1:c.506G>A ENSP00000395875.1:p.Arg169Lys
ENST00000476284.1:n.730G>A
ENST00000487577.5:n.892G>A
NM_001113755.2:c.605G>A NP_001107227.1:p.Arg202Lys
NM_001113756.2:c.605G>A NP_001107228.1:p.Arg202Lys
NM_001257988.1:c.605G>A , LRG_727t1:c.605G>A NP_001244917.1:p.Arg202Lys
NM_001257989.1:c.605G>A , LRG_727t2:c.605G>A NP_001244918.1:p.Arg202Lys
NM_001953.4:c.605G>A NP_001944.1:p.Arg202Lys
NM_001113755.3:c.605G>A NP_001107227.1:p.Arg202Lys
NM_001113756.3:c.605G>A NP_001107228.1:p.Arg202Lys
NM_001953.5:c.605G>A MANE Select NP_001944.1:p.Arg202Lys