Description
phenylalanine hydroxylase [Source:HGNC Symbol;Acc:8582]
Gene Synonyms
PH, PKU, PKU1
Location
Chromosome 12: 103,288,513-103,344,624 reverse strand.
About this transcript
This transcript has 4 exons, is annotated with 5 domains and features, is associated with 22876 variant alleles and maps to 108 oligo probes.
Gene
This transcript is a product of gene ENSG00000171759.4 Show transcript tableHide transcript table
| 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, The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000307000.2 | PAH-002 | 2469 | 447aa | ENSP00000303500.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | J3KND8 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).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 | - | - | - |