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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 7 phenotypes.

NameTranscript IDbpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeqFlags
PAH-001ENST00000553106.14122452aaENSP00000448059.1
 
Protein coding
CCDS9092F8W0A0 F8W1D4 P00439
NM_000277
NP_000268
GENCODE basic
PAH-002ENST00000307000.22469447aaENSP00000303500.2
 
Protein coding
-J3KND8 -GENCODE basic
PAH-009ENST00000546844.1705117aaENSP00000446658.1
 
Protein coding
-F8W1D4 -CDS 3' incomplete
PAH-005ENST00000551337.1675136aaENSP00000447620.1
 
Protein coding
-F8W0A0 F8W1D4 -CDS 3' incomplete
PAH-013ENST00000551988.1584No protein-
 
Processed transcript
----
PAH-006ENST00000552251.1553No protein-
 
Processed transcript
----
PAH-007ENST00000546708.1546No protein-
 
Processed transcript
----
PAH-011ENST00000548928.1472No protein-
 
Processed transcript
----
PAH-004ENST00000547319.1397No protein-
 
Processed transcript
----
PAH-010ENST00000548677.1371No protein-
 
Processed transcript
----
PAH-003ENST00000549111.11252No protein-
 
Retained intron
----
PAH-014ENST00000549247.1958No protein-
 
Retained intron
----
PAH-015ENST00000551114.1793No protein-
 
Retained intron
----
PAH-008ENST00000550405.1625No protein-
 
Retained intron
----
PAH-012ENST00000550978.1601No protein-
 
Retained intron
----

Gene-based displays