Canonical Allele Identifier: CA126758
Gene: TYMP HGNC NCBI
MyVariant.info:
GRCh38 chr22:g.50526638T>G
GRCh37 chr22:g.50965067T>G
Revel Score:
ENST00000395680 0.965
ENST00000395681 0.965
ENST00000252029 (MANE Select) 0.965
ENST00000395678 0.965
ENST00000425169 0.965
gnomAD v2:
22:50965067 T / G
gnomAD v3:
22:50526638 T / G
gnomAD v4:
chr22-50526638-T-G
Joint Max Group AF 0.00005032 (NFE)
Genomes Max Group AF 0.00003762 (NFE)
Exomes Max Group AF 0.00004875 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50526638T>G , CM000684.2:g.50526638T>G GRCh38
NC_000022.10:g.50965067T>G , CM000684.1:g.50965067T>G GRCh37
NC_000022.9:g.49311933T>G NCBI36
NG_011860.1:g.8448A>C , LRG_727:g.8448A>C
NG_016235.1:g.4802A>C
NG_021419.1:g.23423T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252029.8:c.866A>C MANE Select ENSP00000252029.3:p.Glu289Ala
ENST00000395680.6:c.866A>C ENSP00000379037.1:p.Glu289Ala
ENST00000395681.6:c.866A>C ENSP00000379038.1:p.Glu289Ala
ENST00000650719.1:c.747A>C ENSP00000498276.1:p.Gly249=
ENST00000651401.1:c.350A>C ENSP00000499115.1:p.Glu117Ala
ENST00000652401.1:c.367A>C
ENST00000252029.7:c.866A>C ENSP00000252029.3:p.Glu289Ala
ENST00000395678.7:c.866A>C ENSP00000379036.3:p.Glu289Ala
ENST00000395680.5:c.866A>C ENSP00000379037.1:p.Glu289Ala
ENST00000395681.5:c.866A>C ENSP00000379038.1:p.Glu289Ala
ENST00000425169.1:c.767A>C ENSP00000395875.1:p.Glu256Ala
ENST00000476284.1:n.872A>C
ENST00000487577.5:n.1153A>C
NM_001113755.2:c.866A>C NP_001107227.1:p.Glu289Ala
NM_001113756.2:c.866A>C NP_001107228.1:p.Glu289Ala
NM_001257988.1:c.866A>C , LRG_727t1:c.866A>C NP_001244917.1:p.Glu289Ala
NM_001257989.1:c.866A>C , LRG_727t2:c.866A>C NP_001244918.1:p.Glu289Ala
NM_001953.4:c.866A>C NP_001944.1:p.Glu289Ala
NM_001113755.3:c.866A>C NP_001107227.1:p.Glu289Ala
NM_001113756.3:c.866A>C NP_001107228.1:p.Glu289Ala
NM_001953.5:c.866A>C MANE Select NP_001944.1:p.Glu289Ala
Search 100 bp 5'
Search 100 bp 3'