Canonical Allele Identifier: CA412202446
Gene: TYMP HGNC NCBI

Linked Data

dbSNP Id: rs1190033207

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50529501T>A , CM000684.2:g.50529501T>A GRCh38
NC_000022.10:g.50967930T>A , CM000684.1:g.50967930T>A GRCh37
NC_000022.9:g.49314796T>A NCBI36
NG_011860.1:g.5585A>T , LRG_727:g.5585A>T
NG_016235.1:g.1939A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000252029.8:c.209A>T MANE Select ENSP00000252029.3:p.Gln70Leu
ENST00000395680.6:c.209A>T ENSP00000379037.1:p.Gln70Leu
ENST00000395681.6:c.209A>T ENSP00000379038.1:p.Gln70Leu
ENST00000650719.1:c.209A>T ENSP00000498276.1:p.Gln70Leu
ENST00000651095.1:n.348A>T
ENST00000651196.1:c.209A>T ENSP00000499096.1:p.Gln70Leu
ENST00000651401.1:c.-1+403A>T ENSP00000499115.1:n.-1+403A>T
ENST00000651906.1:n.328A>T
ENST00000652237.1:n.328A>T
ENST00000252029.7:c.209A>T ENSP00000252029.3:p.Gln70Leu
ENST00000395678.7:c.209A>T ENSP00000379036.3:p.Gln70Leu
ENST00000395680.5:c.209A>T ENSP00000379037.1:p.Gln70Leu
ENST00000395681.5:c.209A>T ENSP00000379038.1:p.Gln70Leu
ENST00000425169.1:c.209A>T ENSP00000395875.1:p.Gln70Leu
ENST00000476284.1:n.334A>T
ENST00000487162.1:n.340A>T
ENST00000487577.5:n.496A>T
NM_001113755.2:c.209A>T NP_001107227.1:p.Gln70Leu
NM_001113756.2:c.209A>T NP_001107228.1:p.Gln70Leu
NM_001257988.1:c.209A>T , LRG_727t1:c.209A>T NP_001244917.1:p.Gln70Leu
NM_001257989.1:c.209A>T , LRG_727t2:c.209A>T NP_001244918.1:p.Gln70Leu
NM_001953.4:c.209A>T NP_001944.1:p.Gln70Leu
NM_001113755.3:c.209A>T NP_001107227.1:p.Gln70Leu
NM_001113756.3:c.209A>T NP_001107228.1:p.Gln70Leu
NM_001953.5:c.209A>T MANE Select NP_001944.1:p.Gln70Leu