Human (GRCh37.p13)
Description

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

Gene Synonyms

PH, PKU, PKU1

Location

Chromosome 12: 103,230,663-103,352,188 reverse strand.

GRCh37:CM000674.1

About this gene

This gene has 15 transcripts (splice variants), 3 paralogues and is associated with 8 phenotypes.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeqFlags
ENST00000553106.1PAH-0014122452aaENSP00000448059.1
 
Protein coding
CCDS9092F8W0A0 F8W1D4 P00439
NM_000277.1GENCODE basic
ENST00000307000.2PAH-0022469447aaENSP00000303500.2
 
Protein coding
J3KND8 -GENCODE basic
ENST00000546844.1PAH-009705117aaENSP00000446658.1
 
Protein coding
F8W1D4 -CDS 3' incomplete
ENST00000551337.1PAH-005675136aaENSP00000447620.1
 
Protein coding
F8W0A0 F8W1D4 -CDS 3' incomplete
ENST00000551988.1PAH-013584No protein-
 
Processed transcript
---
ENST00000552251.1PAH-006553No protein-
 
Processed transcript
---
ENST00000546708.1PAH-007546No protein-
 
Processed transcript
---
ENST00000548928.1PAH-011472No protein-
 
Processed transcript
---
ENST00000547319.1PAH-004397No protein-
 
Processed transcript
---
ENST00000548677.1PAH-010371No protein-
 
Processed transcript
---
ENST00000549111.1PAH-0031252No protein-
 
Retained intron
---
ENST00000549247.1PAH-014958No protein-
 
Retained intron
---
ENST00000551114.1PAH-015793No protein-
 
Retained intron
---
ENST00000550405.1PAH-008625No protein-
 
Retained intron
---
ENST00000550978.1PAH-012601No protein-
 
Retained intron
---