Canonical Allele Identifier: CA16616784
Gene: TYMP HGNC NCBI

Linked Data

ClinVar Variation Id: 223038
ClinVar RCV Id: RCV000208618
dbSNP Id: rs1064792868
MyVariant Identifiers: chr22:g.50965652A>G (hg19) chr22:g.50527223A>G (hg38)
PubMed: PMID:15742109 PMID:20301358
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50527223A>G , CM000684.2:g.50527223A>G GRCh38
NC_000022.10:g.50965652A>G , CM000684.1:g.50965652A>G GRCh37
NC_000022.9:g.49312518A>G NCBI36
NG_011860.1:g.7863T>C , LRG_727:g.7863T>C
NG_016235.1:g.4217T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000252029.8:c.707T>C MANE Select ENSP00000252029.3:p.Phe236Ser
ENST00000395680.6:c.707T>C ENSP00000379037.1:p.Phe236Ser
ENST00000395681.6:c.707T>C ENSP00000379038.1:p.Phe236Ser
ENST00000650719.1:c.646+365T>C ENSP00000498276.1:n.646+365T>C
ENST00000651401.1:c.191T>C ENSP00000499115.1:p.Phe64Ser
ENST00000651906.1:n.1130T>C
ENST00000652352.1:c.418T>C ENSP00000498579.1:n.418T>C
ENST00000652401.1:c.208T>C
ENST00000252029.7:c.707T>C ENSP00000252029.3:p.Phe236Ser
ENST00000395678.7:c.707T>C ENSP00000379036.3:p.Phe236Ser
ENST00000395680.5:c.707T>C ENSP00000379037.1:p.Phe236Ser
ENST00000395681.5:c.707T>C ENSP00000379038.1:p.Phe236Ser
ENST00000425169.1:c.608T>C ENSP00000395875.1:p.Phe203Ser
ENST00000476284.1:n.771+365T>C
ENST00000487577.5:n.994T>C
NM_001113755.2:c.707T>C NP_001107227.1:p.Phe236Ser
NM_001113756.2:c.707T>C NP_001107228.1:p.Phe236Ser
NM_001257988.1:c.707T>C , LRG_727t1:c.707T>C NP_001244917.1:p.Phe236Ser
NM_001257989.1:c.707T>C , LRG_727t2:c.707T>C NP_001244918.1:p.Phe236Ser
NM_001953.4:c.707T>C NP_001944.1:p.Phe236Ser
NM_001113755.3:c.707T>C NP_001107227.1:p.Phe236Ser
NM_001113756.3:c.707T>C NP_001107228.1:p.Phe236Ser
NM_001953.5:c.707T>C MANE Select NP_001944.1:p.Phe236Ser
Search 100 bp 5'
Search 100 bp 3'