Canonical Allele Identifier: CA325098
Gene: TYMP HGNC NCBI

Linked Data

ClinVar Variation Id: 215333
ClinVar RCV Id: RCV000200518
dbSNP Id: rs863224251

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50528552T>A , CM000684.2:g.50528552T>A GRCh38
NC_000022.10:g.50966981T>A , CM000684.1:g.50966981T>A GRCh37
NC_000022.9:g.49313847T>A NCBI36
NG_011860.1:g.6534A>T , LRG_727:g.6534A>T
NG_016235.1:g.2888A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000252029.8:c.476A>T MANE Select ENSP00000252029.3:p.Glu159Val
ENST00000395680.6:c.476A>T ENSP00000379037.1:p.Glu159Val
ENST00000395681.6:c.476A>T ENSP00000379038.1:p.Glu159Val
ENST00000650719.1:c.476A>T ENSP00000498276.1:p.Glu159Val
ENST00000651401.1:c.1-835A>T ENSP00000499115.1:n.1-835A>T
ENST00000651906.1:n.595A>T
ENST00000652352.1:c.187A>T ENSP00000498579.1:p.Ser63Cys
ENST00000252029.7:c.476A>T ENSP00000252029.3:p.Glu159Val
ENST00000395678.7:c.476A>T ENSP00000379036.3:p.Glu159Val
ENST00000395680.5:c.476A>T ENSP00000379037.1:p.Glu159Val
ENST00000395681.5:c.476A>T ENSP00000379038.1:p.Glu159Val
ENST00000425169.1:c.417+584A>T ENSP00000395875.1:n.417+584A>T
ENST00000476284.1:n.601A>T
ENST00000487162.1:n.1289A>T
ENST00000487577.5:n.763A>T
NM_001113755.2:c.476A>T NP_001107227.1:p.Glu159Val
NM_001113756.2:c.476A>T NP_001107228.1:p.Glu159Val
NM_001257988.1:c.476A>T , LRG_727t1:c.476A>T NP_001244917.1:p.Glu159Val
NM_001257989.1:c.476A>T , LRG_727t2:c.476A>T NP_001244918.1:p.Glu159Val
NM_001953.4:c.476A>T NP_001944.1:p.Glu159Val
NM_001113755.3:c.476A>T NP_001107227.1:p.Glu159Val
NM_001113756.3:c.476A>T NP_001107228.1:p.Glu159Val
NM_001953.5:c.476A>T MANE Select NP_001944.1:p.Glu159Val