Canonical Allele Identifier: CA515272214
Gene: TYMP HGNC NCBI

Linked Data

MyVariant Identifiers: chr22:g.50965603T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50527174T>A , CM000684.2:g.50527174T>A GRCh38
NC_000022.10:g.50965603T>A , CM000684.1:g.50965603T>A GRCh37
NC_000022.9:g.49312469T>A NCBI36
NG_011860.1:g.7912A>T , LRG_727:g.7912A>T
NG_016235.1:g.4266A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000252029.8:c.756A>T MANE Select ENSP00000252029.3:p.Ala252=
ENST00000395680.6:c.756A>T ENSP00000379037.1:p.Ala252=
ENST00000395681.6:c.756A>T ENSP00000379038.1:p.Ala252=
ENST00000650719.1:c.646+414A>T ENSP00000498276.1:n.646+414A>T
ENST00000651401.1:c.240A>T ENSP00000499115.1:p.Ala80=
ENST00000652352.1:c.467A>T ENSP00000498579.1:n.467A>T
ENST00000652401.1:c.257A>T
ENST00000252029.7:c.756A>T ENSP00000252029.3:p.Ala252=
ENST00000395678.7:c.756A>T ENSP00000379036.3:p.Ala252=
ENST00000395680.5:c.756A>T ENSP00000379037.1:p.Ala252=
ENST00000395681.5:c.756A>T ENSP00000379038.1:p.Ala252=
ENST00000425169.1:c.657A>T ENSP00000395875.1:p.Ala219=
ENST00000476284.1:n.771+414A>T
ENST00000487577.5:n.1043A>T
NM_001113755.2:c.756A>T NP_001107227.1:p.Ala252=
NM_001113756.2:c.756A>T NP_001107228.1:p.Ala252=
NM_001257988.1:c.756A>T , LRG_727t1:c.756A>T NP_001244917.1:p.Ala252=
NM_001257989.1:c.756A>T , LRG_727t2:c.756A>T NP_001244918.1:p.Ala252=
NM_001953.4:c.756A>T NP_001944.1:p.Ala252=
NM_001113755.3:c.756A>T NP_001107227.1:p.Ala252=
NM_001113756.3:c.756A>T NP_001107228.1:p.Ala252=
NM_001953.5:c.756A>T MANE Select NP_001944.1:p.Ala252=