Canonical Allele Identifier: CA16616787
Gene: TYMP HGNC NCBI

Linked Data

ClinVar Variation Id: 223041
ClinVar RCV Id: RCV000208628 RCV001853325
dbSNP Id: rs1064792871
MyVariant Identifiers: chr22:g.50965086G>C (hg19) chr22:g.50526657G>C (hg38)
PubMed: PMID:15505189 PMID:20301358
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50526657G>C , CM000684.2:g.50526657G>C GRCh38
NC_000022.10:g.50965086G>C , CM000684.1:g.50965086G>C GRCh37
NC_000022.9:g.49311952G>C NCBI36
NG_011860.1:g.8429C>G , LRG_727:g.8429C>G
NG_016235.1:g.4783C>G
NG_021419.1:g.23442G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000252029.8:c.847C>G MANE Select ENSP00000252029.3:p.His283Asp
ENST00000395680.6:c.847C>G ENSP00000379037.1:p.His283Asp
ENST00000395681.6:c.847C>G ENSP00000379038.1:p.His283Asp
ENST00000650719.1:c.728C>G ENSP00000498276.1:p.Pro243Arg
ENST00000651401.1:c.331C>G ENSP00000499115.1:p.His111Asp
ENST00000652401.1:c.348C>G
ENST00000252029.7:c.847C>G ENSP00000252029.3:p.His283Asp
ENST00000395678.7:c.847C>G ENSP00000379036.3:p.His283Asp
ENST00000395680.5:c.847C>G ENSP00000379037.1:p.His283Asp
ENST00000395681.5:c.847C>G ENSP00000379038.1:p.His283Asp
ENST00000425169.1:c.748C>G ENSP00000395875.1:p.His250Asp
ENST00000476284.1:n.853C>G
ENST00000487577.5:n.1134C>G
NM_001113755.2:c.847C>G NP_001107227.1:p.His283Asp
NM_001113756.2:c.847C>G NP_001107228.1:p.His283Asp
NM_001257988.1:c.847C>G , LRG_727t1:c.847C>G NP_001244917.1:p.His283Asp
NM_001257989.1:c.847C>G , LRG_727t2:c.847C>G NP_001244918.1:p.His283Asp
NM_001953.4:c.847C>G NP_001944.1:p.His283Asp
NM_001113755.3:c.847C>G NP_001107227.1:p.His283Asp
NM_001113756.3:c.847C>G NP_001107228.1:p.His283Asp
NM_001953.5:c.847C>G MANE Select NP_001944.1:p.His283Asp
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