Human (GRCh38.p14)
Description

homogentisate 1,2-dioxygenase [Source:HGNC Symbol;Acc:HGNC:4892]

Gene Synonyms

AKU, HGO

About this transcript

This transcript has 5 exons, is annotated with 5 domains and features, is associated with 5529 variant alleles and maps to 330 oligo probes.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeq MatchFlags
ENST00000283871.10HGD-2011674445aaENSP00000283871.5
 
Protein coding
CCDS3000Q93099 NM_000187.4MANE SelectEnsembl CanonicalGENCODE basicAPPRIS P1TSL:1
ENST00000494453.1HGD-210683145aaENSP00000419163.1
 
Protein coding
H7C576 -TSL:3CDS 5' incomplete
ENST00000475447.2HGD-20456588aaENSP00000417977.2
 
Protein coding
H7C4R8 -TSL:3CDS 5' incomplete
ENST00000476082.2HGD-205462142aaENSP00000419560.2
 
Protein coding
C9JTX9 -TSL:5CDS 3' incomplete
ENST00000492108.5HGD-20963198aaENSP00000419838.1
 
Nonsense mediated decay
H7C5G7 -TSL:2CDS 5' incomplete
ENST00000488183.5HGD-208572No protein-
 
Protein coding CDS not defined
--TSL:4
ENST00000485313.5HGD-207528No protein-
 
Protein coding CDS not defined
--TSL:5
ENST00000480862.1HGD-206656No protein-
 
Retained intron
--TSL:2
ENST00000470321.1HGD-203528No protein-
 
Retained intron
--TSL:3
ENST00000466528.5HGD-202444No protein-
 
Retained intron
--TSL:2
Statistics

Exons: 5, Coding exons: 5, Transcript length: 683 bps, Translation length: 145 residues

Transcript Support Level (TSL)

TSL:3

Incomplete CDS

CDS 5' incomplete

Version

ENST00000494453.1

Type

Protein coding

Annotation Method

Manual annotation (determined on a case-by-case basis) from the Havana project.