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.
Transcripts
| Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
|---|---|---|---|---|---|---|---|---|---|
| ENST00000553106.1 | PAH-001 | 4122 | 452aa | ENSP00000448059.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS9092 | F8W0A0 F8W1D4 P00439 | NM_000277.1 | A single transcript chosen for a gene which is the most conserved, most highly expressed, has the longest coding sequence and is represented in other key resources, such as NCBI and UniProt. This is defined in detail on http://www.ensembl.org/info/genome/genebuild/canonical.htmlEnsembl Canonical, A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, |
| ENST00000307000.2 | PAH-002 | 2469 | 447aa | ENSP00000303500.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | J3KND8 | - | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, | |
| ENST00000546844.1 | PAH-009 | 705 | 117aa | ENSP00000446658.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | F8W1D4 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000551337.1 | PAH-005 | 675 | 136aa | ENSP00000447620.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | F8W0A0 F8W1D4 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000551988.1 | PAH-013 | 584 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000552251.1 | PAH-006 | 553 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000546708.1 | PAH-007 | 546 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000548928.1 | PAH-011 | 472 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000547319.1 | PAH-004 | 397 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000548677.1 | PAH-010 | 371 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000549111.1 | PAH-003 | 1252 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000549247.1 | PAH-014 | 958 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000551114.1 | PAH-015 | 793 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000550405.1 | PAH-008 | 625 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000550978.1 | PAH-012 | 601 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - |
