{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA268157685",
  "communityStandardTitle": [
    "NM_000814.6(GABRB3):c.462-4652C>A"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.26833213G>T?assembly=hg19",
        "id": "chr15:g.26833213G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.26588066G>T?assembly=hg38",
        "id": "chr15:g.26588066G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/8024564",
        "rs": 8024564
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-26588066-G-T?dataset=gnomad_r3",
        "id": "15-26588066-G-T",
        "variant": "15:26588066 G / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-26588066-G-T?dataset=gnomad_r4",
        "id": "15-26588066-G-T",
        "variant": "15:26588066 G / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 26588066,
          "referenceAllele": "G",
          "start": 26588065
        }
      ],
      "hgvs": [
        "NC_000015.10:g.26588066G>T",
        "CM000677.2:g.26588066G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 26833213,
          "referenceAllele": "G",
          "start": 26833212
        }
      ],
      "hgvs": [
        "NC_000015.9:g.26833213G>T",
        "CM000677.1:g.26833213G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 24384306,
          "referenceAllele": "G",
          "start": 24384305
        }
      ],
      "hgvs": [
        "NC_000015.8:g.24384306G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 190715,
          "referenceAllele": "C",
          "start": 190714
        }
      ],
      "hgvs": [
        "NG_012836.1:g.190715C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002569"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 500,
          "endIntronDirection": "-",
          "endIntronOffset": 4651,
          "referenceAllele": "C",
          "start": 500,
          "startIntronDirection": "-",
          "startIntronOffset": 4652
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004083",
      "geneNCBI_id": 2562,
      "geneSymbol": "GABRB3",
      "hgvs": [
        "ENST00000299267.9:c.462-4652C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000299267.4:n.462-4652C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904352"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 565,
          "endIntronDirection": "-",
          "endIntronOffset": 4651,
          "referenceAllele": "C",
          "start": 565,
          "startIntronDirection": "-",
          "startIntronOffset": 4652
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004083",
      "geneNCBI_id": 2562,
      "geneSymbol": "GABRB3",
      "hgvs": [
        "ENST00000311550.10:c.462-4652C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000308725.5:n.462-4652C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745727",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000311550.10:c.462-4652C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000814.6:c.462-4652C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000308725.5:n.462-4652C>A"
          },
          "RefSeq": {
            "hgvs": "NP_000805.1:n.462-4652C>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 504,
          "endIntronDirection": "-",
          "endIntronOffset": 4651,
          "referenceAllele": "C",
          "start": 504,
          "startIntronDirection": "-",
          "startIntronOffset": 4652
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004083",
      "geneNCBI_id": 2562,
      "geneSymbol": "GABRB3",
      "hgvs": [
        "ENST00000635832.1:n.505-4652C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS762670"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 144,
          "endIntronDirection": "-",
          "endIntronOffset": 4651,
          "referenceAllele": "C",
          "start": 144,
          "startIntronDirection": "-",
          "startIntronOffset": 4652
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004083",
      "geneNCBI_id": 2562,
      "geneSymbol": "GABRB3",
      "hgvs": [
        "ENST00000635994.1:c.145-4652C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS762791"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 553,
          "endIntronDirection": "-",
          "endIntronOffset": 4651,
          "referenceAllele": "C",
          "start": 553,
          "startIntronDirection": "-",
          "startIntronOffset": 4652
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004083",
      "geneNCBI_id": 2562,
      "geneSymbol": "GABRB3",
      "hgvs": [
        "ENST00000636466.1:c.207-4652C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489768.1:n.207-4652C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763135"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 442,
          "endIntronDirection": "-",
          "endIntronOffset": 4651,
          "referenceAllele": "C",
          "start": 442,
          "startIntronDirection": "-",
          "startIntronOffset": 4652
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004083",
      "geneNCBI_id": 2562,
      "geneSymbol": "GABRB3",
      "hgvs": [
        "ENST00000638099.1:c.363-4652C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490678.1:n.363-4652C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764341"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 525,
          "endIntronDirection": "-",
          "endIntronOffset": 4651,
          "referenceAllele": "C",
          "start": 525,
          "startIntronDirection": "-",
          "startIntronOffset": 4652
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004083",
      "geneNCBI_id": 2562,
      "geneSymbol": "GABRB3",
      "hgvs": [
        "ENST00000299267.8:c.462-4652C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000299267.4:n.462-4652C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254695"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 573,
          "endIntronDirection": "-",
          "endIntronOffset": 4651,
          "referenceAllele": "C",
          "start": 573,
          "startIntronDirection": "-",
          "startIntronOffset": 4652
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004083",
      "geneNCBI_id": 2562,
      "geneSymbol": "GABRB3",
      "hgvs": [
        "ENST00000311550.9:c.462-4652C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000308725.5:n.462-4652C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256546"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 335,
          "endIntronDirection": "-",
          "endIntronOffset": 4651,
          "referenceAllele": "C",
          "start": 335,
          "startIntronDirection": "-",
          "startIntronOffset": 4652
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004083",
      "geneNCBI_id": 2562,
      "geneSymbol": "GABRB3",
      "hgvs": [
        "ENST00000400188.7:c.249-4652C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000383049.3:n.249-4652C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278946"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 732,
          "endIntronDirection": "-",
          "endIntronOffset": 4651,
          "referenceAllele": "C",
          "start": 732,
          "startIntronDirection": "-",
          "startIntronOffset": 4652
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004083",
      "geneNCBI_id": 2562,
      "geneSymbol": "GABRB3",
      "hgvs": [
        "ENST00000541819.6:c.630-4652C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000442408.2:n.630-4652C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363132"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 306,
          "endIntronDirection": "-",
          "endIntronOffset": 4651,
          "referenceAllele": "C",
          "start": 306,
          "startIntronDirection": "-",
          "startIntronOffset": 4652
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004083",
      "geneNCBI_id": 2562,
      "geneSymbol": "GABRB3",
      "hgvs": [
        "ENST00000545868.4:c.207-4652C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000439169.1:n.207-4652C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS365327"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 335,
          "endIntronDirection": "-",
          "endIntronOffset": 4651,
          "referenceAllele": "C",
          "start": 335,
          "startIntronDirection": "-",
          "startIntronOffset": 4652
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004083",
      "geneNCBI_id": 2562,
      "geneSymbol": "GABRB3",
      "hgvs": [
        "ENST00000554556.5:c.241-4652C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451077.1:n.241-4652C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS370728"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 373,
          "endIntronDirection": "-",
          "endIntronOffset": 4651,
          "referenceAllele": "C",
          "start": 373,
          "startIntronDirection": "-",
          "startIntronOffset": 4652
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004083",
      "geneNCBI_id": 2562,
      "geneSymbol": "GABRB3",
      "hgvs": [
        "ENST00000555094.5:n.374-4652C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS371159"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 609,
          "endIntronDirection": "-",
          "endIntronOffset": 4651,
          "referenceAllele": "C",
          "start": 609,
          "startIntronDirection": "-",
          "startIntronOffset": 4652
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004083",
      "geneNCBI_id": 2562,
      "geneSymbol": "GABRB3",
      "hgvs": [
        "ENST00000555632.5:c.*294-4652C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452041.1:n.*294-4652C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS371591"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 671,
          "endIntronDirection": "-",
          "endIntronOffset": 4651,
          "referenceAllele": "C",
          "start": 671,
          "startIntronDirection": "-",
          "startIntronOffset": 4652
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004083",
      "geneNCBI_id": 2562,
      "geneSymbol": "GABRB3",
      "hgvs": [
        "ENST00000622697.4:c.207-4652C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481004.1:n.207-4652C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405840"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 373,
          "endIntronDirection": "-",
          "endIntronOffset": 4651,
          "referenceAllele": "C",
          "start": 373,
          "startIntronDirection": "-",
          "startIntronOffset": 4652
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004083",
      "geneNCBI_id": 2562,
      "geneSymbol": "GABRB3",
      "hgvs": [
        "ENST00000628124.2:c.207-4652C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486819.1:n.207-4652C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS406996"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 575,
          "endIntronDirection": "-",
          "endIntronOffset": 4651,
          "referenceAllele": "C",
          "start": 575,
          "startIntronDirection": "-",
          "startIntronOffset": 4652
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004083",
      "geneNCBI_id": 2562,
      "geneSymbol": "GABRB3",
      "hgvs": [
        "NM_000814.5:c.462-4652C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000805.1:n.462-4652C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006843"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 373,
          "endIntronDirection": "-",
          "endIntronOffset": 4651,
          "referenceAllele": "C",
          "start": 373,
          "startIntronDirection": "-",
          "startIntronOffset": 4652
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004083",
      "geneNCBI_id": 2562,
      "geneSymbol": "GABRB3",
      "hgvs": [
        "NM_001191320.1:c.207-4652C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001178249.1:n.207-4652C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016311"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 423,
          "endIntronDirection": "-",
          "endIntronOffset": 4651,
          "referenceAllele": "C",
          "start": 423,
          "startIntronDirection": "-",
          "startIntronOffset": 4652
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004083",
      "geneNCBI_id": 2562,
      "geneSymbol": "GABRB3",
      "hgvs": [
        "NM_001191321.2:c.249-4652C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001178250.1:n.249-4652C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016312"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 671,
          "endIntronDirection": "-",
          "endIntronOffset": 4651,
          "referenceAllele": "C",
          "start": 671,
          "startIntronDirection": "-",
          "startIntronOffset": 4652
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004083",
      "geneNCBI_id": 2562,
      "geneSymbol": "GABRB3",
      "hgvs": [
        "NM_001278631.1:c.207-4652C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001265560.1:n.207-4652C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021425"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 525,
          "endIntronDirection": "-",
          "endIntronOffset": 4651,
          "referenceAllele": "C",
          "start": 525,
          "startIntronDirection": "-",
          "startIntronOffset": 4652
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004083",
      "geneNCBI_id": 2562,
      "geneSymbol": "GABRB3",
      "hgvs": [
        "NM_021912.4:c.462-4652C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_068712.1:n.462-4652C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037068"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 555,
          "endIntronDirection": "-",
          "endIntronOffset": 4651,
          "referenceAllele": "C",
          "start": 555,
          "startIntronDirection": "-",
          "startIntronOffset": 4652
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004083",
      "geneNCBI_id": 2562,
      "geneSymbol": "GABRB3",
      "hgvs": [
        "XM_011521428.1:c.285-4652C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519730.1:n.285-4652C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088589"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 559,
          "endIntronDirection": "-",
          "endIntronOffset": 4651,
          "referenceAllele": "C",
          "start": 559,
          "startIntronDirection": "-",
          "startIntronOffset": 4652
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004083",
      "geneNCBI_id": 2562,
      "geneSymbol": "GABRB3",
      "hgvs": [
        "XM_011521428.3:c.285-4652C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519730.1:n.285-4652C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546146"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 565,
          "endIntronDirection": "-",
          "endIntronOffset": 4651,
          "referenceAllele": "C",
          "start": 565,
          "startIntronDirection": "-",
          "startIntronOffset": 4652
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004083",
      "geneNCBI_id": 2562,
      "geneSymbol": "GABRB3",
      "hgvs": [
        "NM_000814.6:c.462-4652C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000805.1:n.462-4652C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662596",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000311550.10:c.462-4652C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000814.6:c.462-4652C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000308725.5:n.462-4652C>A"
          },
          "RefSeq": {
            "hgvs": "NP_000805.1:n.462-4652C>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 335,
          "endIntronDirection": "-",
          "endIntronOffset": 4651,
          "referenceAllele": "C",
          "start": 335,
          "startIntronDirection": "-",
          "startIntronOffset": 4652
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004083",
      "geneNCBI_id": 2562,
      "geneSymbol": "GABRB3",
      "hgvs": [
        "NM_001191321.3:c.249-4652C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001178250.1:n.249-4652C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679175"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 500,
          "endIntronDirection": "-",
          "endIntronOffset": 4651,
          "referenceAllele": "C",
          "start": 500,
          "startIntronDirection": "-",
          "startIntronOffset": 4652
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004083",
      "geneNCBI_id": 2562,
      "geneSymbol": "GABRB3",
      "hgvs": [
        "NM_021912.5:c.462-4652C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_068712.1:n.462-4652C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698461"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 373,
          "endIntronDirection": "-",
          "endIntronOffset": 4651,
          "referenceAllele": "C",
          "start": 373,
          "startIntronDirection": "-",
          "startIntronOffset": 4652
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004083",
      "geneNCBI_id": 2562,
      "geneSymbol": "GABRB3",
      "hgvs": [
        "NM_001191320.2:c.207-4652C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001178249.1:n.207-4652C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713718"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 661,
          "endIntronDirection": "-",
          "endIntronOffset": 4651,
          "referenceAllele": "C",
          "start": 661,
          "startIntronDirection": "-",
          "startIntronOffset": 4652
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004083",
      "geneNCBI_id": 2562,
      "geneSymbol": "GABRB3",
      "hgvs": [
        "NM_001278631.2:c.207-4652C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001265560.1:n.207-4652C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715617"
    }
  ],
  "type": "nucleotide"
}