Canonical Allele Identifier: CA10321814
Gene: TYMP HGNC NCBI

Linked Data

ClinVar Variation Id: 384376
dbSNP Id: rs759383300

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50529322G>A , CM000684.2:g.50529322G>A GRCh38
NC_000022.10:g.50967751G>A , CM000684.1:g.50967751G>A GRCh37
NC_000022.9:g.49314617G>A NCBI36
NG_011860.1:g.5764C>T , LRG_727:g.5764C>T
NG_016235.1:g.2118C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252029.8:c.231C>T MANE Select ENSP00000252029.3:p.Ala77=
ENST00000395680.6:c.231C>T ENSP00000379037.1:p.Ala77=
ENST00000395681.6:c.231C>T ENSP00000379038.1:p.Ala77=
ENST00000650719.1:c.231C>T ENSP00000498276.1:p.Ala77=
ENST00000651095.1:n.370C>T
ENST00000651196.1:c.231C>T ENSP00000499096.1:p.Ala77=
ENST00000651401.1:c.-1+582C>T ENSP00000499115.1:n.-1+582C>T
ENST00000651906.1:n.350C>T
ENST00000652237.1:n.507C>T
ENST00000252029.7:c.231C>T ENSP00000252029.3:p.Ala77=
ENST00000395678.7:c.231C>T ENSP00000379036.3:p.Ala77=
ENST00000395680.5:c.231C>T ENSP00000379037.1:p.Ala77=
ENST00000395681.5:c.231C>T ENSP00000379038.1:p.Ala77=
ENST00000425169.1:c.231C>T ENSP00000395875.1:p.Ala77=
ENST00000476284.1:n.356C>T
ENST00000487162.1:n.519C>T
ENST00000487577.5:n.518C>T
NM_001113755.2:c.231C>T NP_001107227.1:p.Ala77=
NM_001113756.2:c.231C>T NP_001107228.1:p.Ala77=
NM_001257988.1:c.231C>T , LRG_727t1:c.231C>T NP_001244917.1:p.Ala77=
NM_001257989.1:c.231C>T , LRG_727t2:c.231C>T NP_001244918.1:p.Ala77=
NM_001953.4:c.231C>T NP_001944.1:p.Ala77=
NM_001113755.3:c.231C>T NP_001107227.1:p.Ala77=
NM_001113756.3:c.231C>T NP_001107228.1:p.Ala77=
NM_001953.5:c.231C>T MANE Select NP_001944.1:p.Ala77=