Canonical Allele Identifier: CA16616785
Gene: TYMP HGNC NCBI

Linked Data

ClinVar Variation Id: 223039
ClinVar RCV Id: RCV000208661
dbSNP Id: rs1064792869
MyVariant Identifiers: chr22:g.50965644C>T (hg19) chr22:g.50527215C>T (hg38)
PubMed: PMID:20301358 PMID:21933806
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50527215C>T , CM000684.2:g.50527215C>T GRCh38
NC_000022.10:g.50965644C>T , CM000684.1:g.50965644C>T GRCh37
NC_000022.9:g.49312510C>T NCBI36
NG_011860.1:g.7871G>A , LRG_727:g.7871G>A
NG_016235.1:g.4225G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000252029.8:c.715G>A MANE Select ENSP00000252029.3:p.Ala239Thr
ENST00000395680.6:c.715G>A ENSP00000379037.1:p.Ala239Thr
ENST00000395681.6:c.715G>A ENSP00000379038.1:p.Ala239Thr
ENST00000650719.1:c.646+373G>A ENSP00000498276.1:n.646+373G>A
ENST00000651401.1:c.199G>A ENSP00000499115.1:p.Ala67Thr
ENST00000651906.1:n.1138G>A
ENST00000652352.1:c.426G>A ENSP00000498579.1:n.426G>A
ENST00000652401.1:c.216G>A
ENST00000252029.7:c.715G>A ENSP00000252029.3:p.Ala239Thr
ENST00000395678.7:c.715G>A ENSP00000379036.3:p.Ala239Thr
ENST00000395680.5:c.715G>A ENSP00000379037.1:p.Ala239Thr
ENST00000395681.5:c.715G>A ENSP00000379038.1:p.Ala239Thr
ENST00000425169.1:c.616G>A ENSP00000395875.1:p.Ala206Thr
ENST00000476284.1:n.771+373G>A
ENST00000487577.5:n.1002G>A
NM_001113755.2:c.715G>A NP_001107227.1:p.Ala239Thr
NM_001113756.2:c.715G>A NP_001107228.1:p.Ala239Thr
NM_001257988.1:c.715G>A , LRG_727t1:c.715G>A NP_001244917.1:p.Ala239Thr
NM_001257989.1:c.715G>A , LRG_727t2:c.715G>A NP_001244918.1:p.Ala239Thr
NM_001953.4:c.715G>A NP_001944.1:p.Ala239Thr
NM_001113755.3:c.715G>A NP_001107227.1:p.Ala239Thr
NM_001113756.3:c.715G>A NP_001107228.1:p.Ala239Thr
NM_001953.5:c.715G>A MANE Select NP_001944.1:p.Ala239Thr
Search 100 bp 5'
Search 100 bp 3'