Canonical Allele Identifier: CA126803
Gene: TYMP HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 16666
ClinVar RCV Id: RCV000018146
dbSNP Id: rs121913042

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50526650A>G , CM000684.2:g.50526650A>G GRCh38
NC_000022.10:g.50965079A>G , CM000684.1:g.50965079A>G GRCh37
NC_000022.9:g.49311945A>G NCBI36
NG_011860.1:g.8436T>C , LRG_727:g.8436T>C
NG_016235.1:g.4790T>C
NG_021419.1:g.23435A>G

Transcript Alleles

HGVS Amino-acid change
NM_001113755.2:c.854T>C VV NP_001107227.1:p.Leu285Pro
NM_001113756.2:c.854T>C VV NP_001107228.1:p.Leu285Pro
NM_001257988.1:c.854T>C , LRG_727t1:c.854T>C NP_001244917.1:p.Leu285Pro
NM_001257989.1:c.854T>C , LRG_727t2:c.854T>C NP_001244918.1:p.Leu285Pro
NM_001953.4:c.854T>C VV NP_001944.1:p.Leu285Pro
ENST00000252029.7:c.854T>C ENSP00000252029.3:p.Leu285Pro
ENST00000395678.7:c.854T>C ENSP00000379036.3:p.Leu285Pro
ENST00000395680.5:c.854T>C ENSP00000379037.1:p.Leu285Pro
ENST00000395681.5:c.854T>C ENSP00000379038.1:p.Leu285Pro
ENST00000425169.1:c.755T>C ENSP00000395875.1:p.Leu252Pro
ENST00000476284.1:n.860T>C
ENST00000487577.5:n.1141T>C