Human (GRCh38.p14)
Description

phenylalanine hydroxylase [Source:HGNC Symbol;Acc:HGNC:8582]

Gene Synonyms

PH

Location

Chromosome 12: 102,836,889-102,958,410 reverse strand.

GRCh38:CM000674.2

About this gene

This gene has 18 transcripts (splice variants), 204 orthologues, 3 paralogues and is associated with 7 phenotypes.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeq MatchFlags
ENST00000553106.6PAH-2153759452aaENSP00000448059.1
 
Protein coding
CCDS9092A0A024RBG4 P00439 NM_000277.3MANE SelectEnsembl CanonicalGENCODE basicAPPRIS P1TSL:1
ENST00000307000.7PAH-2012466447aaENSP00000303500.2
 
Protein coding
J3KND8 -GENCODE basicTSL:5
ENST00000546844.1PAH-203705117aaENSP00000446658.1
 
Protein coding
F8W1D4 -TSL:3CDS 3' incomplete
ENST00000551337.5PAH-212675136aaENSP00000447620.1
 
Protein coding
F8W0A0 -TSL:3CDS 3' incomplete
ENST00000550978.6PAH-210652149aaENSP00000489016.1
 
Protein coding
A0A0U1RQI3 -TSL:2CDS 5' incomplete
ENST00000635477.1PAH-216429143aaENSP00000489230.1
 
Protein coding
A0A0U1RQY4 -TSL:5CDS 5' and 3' incomplete
ENST00000550405.2PAH-209705No protein-
 
Protein coding CDS not defined
--TSL:5
ENST00000551988.5PAH-213584No protein-
 
Protein coding CDS not defined
--TSL:3
ENST00000552251.5PAH-214553No protein-
 
Protein coding CDS not defined
--TSL:4
ENST00000546708.5PAH-202546No protein-
 
Protein coding CDS not defined
--TSL:5
ENST00000548928.1PAH-206472No protein-
 
Protein coding CDS not defined
--TSL:3
ENST00000547319.1PAH-204397No protein-
 
Protein coding CDS not defined
--TSL:4
ENST00000548677.2PAH-205373No protein-
 
Protein coding CDS not defined
--TSL:5
ENST00000635500.1PAH-217189No protein-
 
Protein coding CDS not defined
--TSL:3
ENST00000549111.5PAH-2071252No protein-
 
Retained intron
--TSL:1
ENST00000551114.2PAH-2111109No protein-
 
Retained intron
--TSL:2
ENST00000549247.6PAH-208961No protein-
 
Retained intron
--TSL:2
ENST00000635528.1PAH-218960No protein-
 
Retained intron
--TSL:3