Description
gamma-aminobutyric acid (GABA) A receptor, alpha 1 [Source:HGNC Symbol;Acc:4075]
Gene Synonyms
ECA4, EJM, EJM5
Location
Chromosome 5: 161,274,197-161,326,975 forward strand.
GRCh37:CM000667.1
About this gene
This gene has 10 transcripts (splice variants), 9 paralogues and is associated with 8 phenotypes.
Transcripts
| Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
|---|---|---|---|---|---|---|---|---|---|
| ENST00000428797.2 | GABRA1-001 | 4273 | 456aa | ENSP00000393097.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS4357 | E5RJS3 E5RK60 P14867 | NM_001127643.1 | 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, |
| ENST00000444819.1 | GABRA1-202 | 4223 | 456aa | ENSP00000414232.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS4357 | E5RJS3 E5RK60 P14867 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000437025.2 | GABRA1-004 | 4087 | 456aa | ENSP00000415441.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS4357 | E5RJS3 E5RK60 P14867 | NM_001127645.1 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000420560.1 | GABRA1-201 | 4067 | 456aa | ENSP00000408041.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS4357 | E5RJS3 E5RK60 P14867 | NM_001127648.1 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000393943.4 | GABRA1-005 | 2119 | 456aa | ENSP00000377517.4 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS4357 | E5RJS3 E5RK60 P14867 | NM_001127644.1 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000023897.6 | GABRA1-002 | 2083 | 456aa | ENSP00000023897.6 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS4357 | E5RJS3 E5RK60 P14867 | NM_000806.5 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000519621.1 | GABRA1-008 | 583 | 123aa | ENSP00000430435.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | E5RJS3 E5RK60 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000522651.1 | GABRA1-007 | 571 | 85aa | ENSP00000430507.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | E5RJS3 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000521339.1 | GABRA1-006 | 414 | 91aa | ENSP00000430895.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | E5RHL6 E5RJS3 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000519542.1 | GABRA1-009 | 572 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - |
