Canonical Allele Identifier: CA412201957
Gene: TYMP HGNC NCBI

Linked Data

dbSNP Id: rs1055509931

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50529165C>T , CM000684.2:g.50529165C>T GRCh38
NC_000022.10:g.50967594C>T , CM000684.1:g.50967594C>T GRCh37
NC_000022.9:g.49314460C>T NCBI36
NG_011860.1:g.5921G>A , LRG_727:g.5921G>A
NG_016235.1:g.2275G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252029.8:c.388G>A MANE Select ENSP00000252029.3:p.Ala130Thr
ENST00000395680.6:c.388G>A ENSP00000379037.1:p.Ala130Thr
ENST00000395681.6:c.388G>A ENSP00000379038.1:p.Ala130Thr
ENST00000650719.1:c.388G>A ENSP00000498276.1:p.Ala130Thr
ENST00000651095.1:n.527G>A
ENST00000651196.1:c.388G>A ENSP00000499096.1:p.Ala130Thr
ENST00000651401.1:c.-1+739G>A ENSP00000499115.1:n.-1+739G>A
ENST00000651906.1:n.507G>A
ENST00000652237.1:n.664G>A
ENST00000652352.1:c.136G>A ENSP00000498579.1:p.Ala46Thr
ENST00000252029.7:c.388G>A ENSP00000252029.3:p.Ala130Thr
ENST00000395678.7:c.388G>A ENSP00000379036.3:p.Ala130Thr
ENST00000395680.5:c.388G>A ENSP00000379037.1:p.Ala130Thr
ENST00000395681.5:c.388G>A ENSP00000379038.1:p.Ala130Thr
ENST00000425169.1:c.388G>A ENSP00000395875.1:p.Ala130Thr
ENST00000476284.1:n.513G>A
ENST00000487162.1:n.676G>A
ENST00000487577.5:n.675G>A
NM_001113755.2:c.388G>A NP_001107227.1:p.Ala130Thr
NM_001113756.2:c.388G>A NP_001107228.1:p.Ala130Thr
NM_001257988.1:c.388G>A , LRG_727t1:c.388G>A NP_001244917.1:p.Ala130Thr
NM_001257989.1:c.388G>A , LRG_727t2:c.388G>A NP_001244918.1:p.Ala130Thr
NM_001953.4:c.388G>A NP_001944.1:p.Ala130Thr
NM_001113755.3:c.388G>A NP_001107227.1:p.Ala130Thr
NM_001113756.3:c.388G>A NP_001107228.1:p.Ala130Thr
NM_001953.5:c.388G>A MANE Select NP_001944.1:p.Ala130Thr