{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA391458115",
  "communityStandardTitle": [
    "NM_000814.6(GABRB3):c.479C>G (p.Ala160Gly)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1608199",
        "active": true,
        "id": "COSM1608199"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1608200",
        "active": true,
        "id": "COSM1608200"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1608201",
        "active": true,
        "id": "COSM1608201"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.26828544G>C?assembly=hg19",
        "id": "chr15:g.26828544G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.26583397G>C?assembly=hg38",
        "id": "chr15:g.26583397G>C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "C",
          "end": 26583397,
          "referenceAllele": "G",
          "start": 26583396
        }
      ],
      "hgvs": [
        "NC_000015.10:g.26583397G>C",
        "CM000677.2:g.26583397G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "C",
          "end": 26828544,
          "referenceAllele": "G",
          "start": 26828543
        }
      ],
      "hgvs": [
        "NC_000015.9:g.26828544G>C",
        "CM000677.1:g.26828544G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "C",
          "end": 24379637,
          "referenceAllele": "G",
          "start": 24379636
        }
      ],
      "hgvs": [
        "NC_000015.8:g.24379637G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 195384,
          "referenceAllele": "C",
          "start": 195383
        }
      ],
      "hgvs": [
        "NG_012836.1:g.195384C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002569"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 518,
          "referenceAllele": "C",
          "start": 517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004083",
      "geneNCBI_id": 2562,
      "geneSymbol": "GABRB3",
      "hgvs": [
        "ENST00000299267.9:c.479C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000299267.4:p.Ala160Gly",
        "hgvsWellDefined": "ENSP00000299267.4:p.Ala160Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904352"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 583,
          "referenceAllele": "C",
          "start": 582
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004083",
      "geneNCBI_id": 2562,
      "geneSymbol": "GABRB3",
      "hgvs": [
        "ENST00000311550.10:c.479C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000308725.5:p.Ala160Gly",
        "hgvsWellDefined": "ENSP00000308725.5:p.Ala160Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745727",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000311550.10:c.479C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000814.6:c.479C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000308725.5:p.Ala160Gly"
          },
          "RefSeq": {
            "hgvs": "NP_000805.1:p.Ala160Gly"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 522,
          "referenceAllele": "C",
          "start": 521
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004083",
      "geneNCBI_id": 2562,
      "geneSymbol": "GABRB3",
      "hgvs": [
        "ENST00000635832.1:n.522C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS762670"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 162,
          "referenceAllele": "C",
          "start": 161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004083",
      "geneNCBI_id": 2562,
      "geneSymbol": "GABRB3",
      "hgvs": [
        "ENST00000635994.1:c.162C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS762791"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 571,
          "referenceAllele": "C",
          "start": 570
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004083",
      "geneNCBI_id": 2562,
      "geneSymbol": "GABRB3",
      "hgvs": [
        "ENST00000636466.1:c.224C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489768.1:p.Ala75Gly",
        "hgvsWellDefined": "ENSP00000489768.1:p.Ala75Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763135"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 460,
          "referenceAllele": "C",
          "start": 459
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004083",
      "geneNCBI_id": 2562,
      "geneSymbol": "GABRB3",
      "hgvs": [
        "ENST00000638099.1:c.380C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490678.1:p.Ala127Gly",
        "hgvsWellDefined": "ENSP00000490678.1:p.Ala127Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764341"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 543,
          "referenceAllele": "C",
          "start": 542
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004083",
      "geneNCBI_id": 2562,
      "geneSymbol": "GABRB3",
      "hgvs": [
        "ENST00000299267.8:c.479C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000299267.4:p.Ala160Gly",
        "hgvsWellDefined": "ENSP00000299267.4:p.Ala160Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254695"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 591,
          "referenceAllele": "C",
          "start": 590
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004083",
      "geneNCBI_id": 2562,
      "geneSymbol": "GABRB3",
      "hgvs": [
        "ENST00000311550.9:c.479C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000308725.5:p.Ala160Gly",
        "hgvsWellDefined": "ENSP00000308725.5:p.Ala160Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256546"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 353,
          "referenceAllele": "C",
          "start": 352
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004083",
      "geneNCBI_id": 2562,
      "geneSymbol": "GABRB3",
      "hgvs": [
        "ENST00000400188.7:c.266C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000383049.3:p.Ala89Gly",
        "hgvsWellDefined": "ENSP00000383049.3:p.Ala89Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278946"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 750,
          "referenceAllele": "C",
          "start": 749
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004083",
      "geneNCBI_id": 2562,
      "geneSymbol": "GABRB3",
      "hgvs": [
        "ENST00000541819.6:c.647C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000442408.2:p.Ala216Gly",
        "hgvsWellDefined": "ENSP00000442408.2:p.Ala216Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363132"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 324,
          "referenceAllele": "C",
          "start": 323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004083",
      "geneNCBI_id": 2562,
      "geneSymbol": "GABRB3",
      "hgvs": [
        "ENST00000545868.4:c.224C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000439169.1:p.Ala75Gly",
        "hgvsWellDefined": "ENSP00000439169.1:p.Ala75Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS365327"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 353,
          "referenceAllele": "C",
          "start": 352
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004083",
      "geneNCBI_id": 2562,
      "geneSymbol": "GABRB3",
      "hgvs": [
        "ENST00000554556.5:c.258C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451077.1:p.Ser86Arg",
        "hgvsWellDefined": "ENSP00000451077.1:p.Ser86Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS370728"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 391,
          "referenceAllele": "C",
          "start": 390
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004083",
      "geneNCBI_id": 2562,
      "geneSymbol": "GABRB3",
      "hgvs": [
        "ENST00000555094.5:n.391C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS371159"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 627,
          "referenceAllele": "C",
          "start": 626
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004083",
      "geneNCBI_id": 2562,
      "geneSymbol": "GABRB3",
      "hgvs": [
        "ENST00000555632.5:c.*311C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452041.1:n.*311C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS371591"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 689,
          "referenceAllele": "C",
          "start": 688
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004083",
      "geneNCBI_id": 2562,
      "geneSymbol": "GABRB3",
      "hgvs": [
        "ENST00000622697.4:c.224C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481004.1:p.Ala75Gly",
        "hgvsWellDefined": "ENSP00000481004.1:p.Ala75Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405840"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 391,
          "referenceAllele": "C",
          "start": 390
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004083",
      "geneNCBI_id": 2562,
      "geneSymbol": "GABRB3",
      "hgvs": [
        "ENST00000628124.2:c.224C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486819.1:p.Ala75Gly",
        "hgvsWellDefined": "ENSP00000486819.1:p.Ala75Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS406996"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 593,
          "referenceAllele": "C",
          "start": 592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004083",
      "geneNCBI_id": 2562,
      "geneSymbol": "GABRB3",
      "hgvs": [
        "NM_000814.5:c.479C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000805.1:p.Ala160Gly",
        "hgvsWellDefined": "NP_000805.1:p.Ala160Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006843"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 391,
          "referenceAllele": "C",
          "start": 390
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004083",
      "geneNCBI_id": 2562,
      "geneSymbol": "GABRB3",
      "hgvs": [
        "NM_001191320.1:c.224C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001178249.1:p.Ala75Gly",
        "hgvsWellDefined": "NP_001178249.1:p.Ala75Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016311"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 441,
          "referenceAllele": "C",
          "start": 440
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004083",
      "geneNCBI_id": 2562,
      "geneSymbol": "GABRB3",
      "hgvs": [
        "NM_001191321.2:c.266C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001178250.1:p.Ala89Gly",
        "hgvsWellDefined": "NP_001178250.1:p.Ala89Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016312"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 689,
          "referenceAllele": "C",
          "start": 688
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004083",
      "geneNCBI_id": 2562,
      "geneSymbol": "GABRB3",
      "hgvs": [
        "NM_001278631.1:c.224C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001265560.1:p.Ala75Gly",
        "hgvsWellDefined": "NP_001265560.1:p.Ala75Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021425"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 543,
          "referenceAllele": "C",
          "start": 542
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004083",
      "geneNCBI_id": 2562,
      "geneSymbol": "GABRB3",
      "hgvs": [
        "NM_021912.4:c.479C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_068712.1:p.Ala160Gly",
        "hgvsWellDefined": "NP_068712.1:p.Ala160Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037068"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 573,
          "referenceAllele": "C",
          "start": 572
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004083",
      "geneNCBI_id": 2562,
      "geneSymbol": "GABRB3",
      "hgvs": [
        "XM_011521428.1:c.302C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519730.1:p.Ala101Gly",
        "hgvsWellDefined": "XP_011519730.1:p.Ala101Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088589"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 577,
          "referenceAllele": "C",
          "start": 576
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004083",
      "geneNCBI_id": 2562,
      "geneSymbol": "GABRB3",
      "hgvs": [
        "XM_011521428.3:c.302C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519730.1:p.Ala101Gly",
        "hgvsWellDefined": "XP_011519730.1:p.Ala101Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546146"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 583,
          "referenceAllele": "C",
          "start": 582
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004083",
      "geneNCBI_id": 2562,
      "geneSymbol": "GABRB3",
      "hgvs": [
        "NM_000814.6:c.479C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000805.1:p.Ala160Gly",
        "hgvsWellDefined": "NP_000805.1:p.Ala160Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662596",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000311550.10:c.479C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000814.6:c.479C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000308725.5:p.Ala160Gly"
          },
          "RefSeq": {
            "hgvs": "NP_000805.1:p.Ala160Gly"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 353,
          "referenceAllele": "C",
          "start": 352
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004083",
      "geneNCBI_id": 2562,
      "geneSymbol": "GABRB3",
      "hgvs": [
        "NM_001191321.3:c.266C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001178250.1:p.Ala89Gly",
        "hgvsWellDefined": "NP_001178250.1:p.Ala89Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679175"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 518,
          "referenceAllele": "C",
          "start": 517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004083",
      "geneNCBI_id": 2562,
      "geneSymbol": "GABRB3",
      "hgvs": [
        "NM_021912.5:c.479C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_068712.1:p.Ala160Gly",
        "hgvsWellDefined": "NP_068712.1:p.Ala160Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698461"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 391,
          "referenceAllele": "C",
          "start": 390
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004083",
      "geneNCBI_id": 2562,
      "geneSymbol": "GABRB3",
      "hgvs": [
        "NM_001191320.2:c.224C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001178249.1:p.Ala75Gly",
        "hgvsWellDefined": "NP_001178249.1:p.Ala75Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713718"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 679,
          "referenceAllele": "C",
          "start": 678
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004083",
      "geneNCBI_id": 2562,
      "geneSymbol": "GABRB3",
      "hgvs": [
        "NM_001278631.2:c.224C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001265560.1:p.Ala75Gly",
        "hgvsWellDefined": "NP_001265560.1:p.Ala75Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715617"
    }
  ],
  "type": "nucleotide"
}