Canonical Allele Identifier: CA412202335
Gene: TYMP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50529323G>A , CM000684.2:g.50529323G>A GRCh38
NC_000022.10:g.50967752G>A , CM000684.1:g.50967752G>A GRCh37
NC_000022.9:g.49314618G>A NCBI36
NG_011860.1:g.5763C>T , LRG_727:g.5763C>T
NG_016235.1:g.2117C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252029.8:c.230C>T MANE Select ENSP00000252029.3:p.Ala77Val
ENST00000395680.6:c.230C>T ENSP00000379037.1:p.Ala77Val
ENST00000395681.6:c.230C>T ENSP00000379038.1:p.Ala77Val
ENST00000650719.1:c.230C>T ENSP00000498276.1:p.Ala77Val
ENST00000651095.1:n.369C>T
ENST00000651196.1:c.230C>T ENSP00000499096.1:p.Ala77Val
ENST00000651401.1:c.-1+581C>T ENSP00000499115.1:n.-1+581C>T
ENST00000651906.1:n.349C>T
ENST00000652237.1:n.506C>T
ENST00000252029.7:c.230C>T ENSP00000252029.3:p.Ala77Val
ENST00000395678.7:c.230C>T ENSP00000379036.3:p.Ala77Val
ENST00000395680.5:c.230C>T ENSP00000379037.1:p.Ala77Val
ENST00000395681.5:c.230C>T ENSP00000379038.1:p.Ala77Val
ENST00000425169.1:c.230C>T ENSP00000395875.1:p.Ala77Val
ENST00000476284.1:n.355C>T
ENST00000487162.1:n.518C>T
ENST00000487577.5:n.517C>T
NM_001113755.2:c.230C>T NP_001107227.1:p.Ala77Val
NM_001113756.2:c.230C>T NP_001107228.1:p.Ala77Val
NM_001257988.1:c.230C>T , LRG_727t1:c.230C>T NP_001244917.1:p.Ala77Val
NM_001257989.1:c.230C>T , LRG_727t2:c.230C>T NP_001244918.1:p.Ala77Val
NM_001953.4:c.230C>T NP_001944.1:p.Ala77Val
NM_001113755.3:c.230C>T NP_001107227.1:p.Ala77Val
NM_001113756.3:c.230C>T NP_001107228.1:p.Ala77Val
NM_001953.5:c.230C>T MANE Select NP_001944.1:p.Ala77Val