{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2165851144",
  "communityStandardTitle": [
    "NM_000814.6(GABRB3):c.94G= (p.Gly32=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/71651682",
        "rs": 71651682
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "C",
          "end": 26772759,
          "referenceAllele": "C",
          "start": 26772758
        }
      ],
      "hgvs": [
        "NC_000015.10:g.26772759C=",
        "CM000677.2:g.26772759C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "C",
          "end": 27017906,
          "referenceAllele": "C",
          "start": 27017905
        }
      ],
      "hgvs": [
        "NC_000015.9:g.27017906C=",
        "CM000677.1:g.27017906C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "C",
          "end": 24568999,
          "referenceAllele": "C",
          "start": 24568998
        }
      ],
      "hgvs": [
        "NC_000015.8:g.24568999C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6022,
          "referenceAllele": "G",
          "start": 6021
        }
      ],
      "hgvs": [
        "NG_012836.1:g.6022G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002569"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 133,
          "referenceAllele": "G",
          "start": 132
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004083",
      "geneNCBI_id": 2562,
      "geneSymbol": "GABRB3",
      "hgvs": [
        "ENST00000299267.9:c.94G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000299267.4:p.Gly32="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904352"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 198,
          "referenceAllele": "G",
          "start": 197
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004083",
      "geneNCBI_id": 2562,
      "geneSymbol": "GABRB3",
      "hgvs": [
        "ENST00000311550.10:c.94G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000308725.5:p.Gly32="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745727",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000311550.10:c.94G="
          },
          "RefSeq": {
            "hgvs": "NM_000814.6:c.94G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000308725.5:p.Gly32="
          },
          "RefSeq": {
            "hgvs": "NP_000805.1:p.Gly32="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 75,
          "referenceAllele": "G",
          "start": 74
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004083",
      "geneNCBI_id": 2562,
      "geneSymbol": "GABRB3",
      "hgvs": [
        "ENST00000638099.1:c.-6G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490678.1:n.-6G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764341"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 158,
          "referenceAllele": "G",
          "start": 157
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004083",
      "geneNCBI_id": 2562,
      "geneSymbol": "GABRB3",
      "hgvs": [
        "ENST00000299267.8:c.94G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000299267.4:p.Gly32="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254695"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 206,
          "referenceAllele": "G",
          "start": 205
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004083",
      "geneNCBI_id": 2562,
      "geneSymbol": "GABRB3",
      "hgvs": [
        "ENST00000311550.9:c.94G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000308725.5:p.Gly32="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256546"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 365,
          "referenceAllele": "G",
          "start": 364
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004083",
      "geneNCBI_id": 2562,
      "geneSymbol": "GABRB3",
      "hgvs": [
        "ENST00000541819.6:c.262G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000442408.2:p.Gly88="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363132"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 189,
          "referenceAllele": "G",
          "start": 188
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004083",
      "geneNCBI_id": 2562,
      "geneSymbol": "GABRB3",
      "hgvs": [
        "ENST00000554556.5:c.94G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451077.1:p.Gly32="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS370728"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 121,
          "referenceAllele": "G",
          "start": 120
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004083",
      "geneNCBI_id": 2562,
      "geneSymbol": "GABRB3",
      "hgvs": [
        "ENST00000554722.1:n.121G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS370861"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 146,
          "referenceAllele": "G",
          "start": 145
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004083",
      "geneNCBI_id": 2562,
      "geneSymbol": "GABRB3",
      "hgvs": [
        "ENST00000555632.5:c.94G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452041.1:p.Gly32="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS371591"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 466,
          "referenceAllele": "G",
          "start": 465
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004083",
      "geneNCBI_id": 2562,
      "geneSymbol": "GABRB3",
      "hgvs": [
        "ENST00000557641.5:n.466G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS373198"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 208,
          "referenceAllele": "G",
          "start": 207
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004083",
      "geneNCBI_id": 2562,
      "geneSymbol": "GABRB3",
      "hgvs": [
        "ENST00000622697.4:c.-258G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481004.1:n.-258G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405840"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3081913920",
      "coordinates": [
        {
          "allele": "G",
          "end": 208,
          "referenceAllele": "G",
          "start": 207
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004083",
      "geneNCBI_id": 2562,
      "geneSymbol": "GABRB3",
      "hgvs": [
        "NM_000814.5:c.94G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000805.1:p.Gly32="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006843"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 208,
          "referenceAllele": "G",
          "start": 207
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004083",
      "geneNCBI_id": 2562,
      "geneSymbol": "GABRB3",
      "hgvs": [
        "NM_001278631.1:c.-258G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001265560.1:n.-258G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021425"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 158,
          "referenceAllele": "G",
          "start": 157
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004083",
      "geneNCBI_id": 2562,
      "geneSymbol": "GABRB3",
      "hgvs": [
        "NM_021912.4:c.94G="
      ],
      "proteinEffect": {
        "hgvs": "NP_068712.1:p.Gly32="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037068"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3081913920",
      "coordinates": [
        {
          "allele": "G",
          "end": 198,
          "referenceAllele": "G",
          "start": 197
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004083",
      "geneNCBI_id": 2562,
      "geneSymbol": "GABRB3",
      "hgvs": [
        "NM_000814.6:c.94G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000805.1:p.Gly32="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662596",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000311550.10:c.94G="
          },
          "RefSeq": {
            "hgvs": "NM_000814.6:c.94G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000308725.5:p.Gly32="
          },
          "RefSeq": {
            "hgvs": "NP_000805.1:p.Gly32="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 133,
          "referenceAllele": "G",
          "start": 132
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004083",
      "geneNCBI_id": 2562,
      "geneSymbol": "GABRB3",
      "hgvs": [
        "NM_021912.5:c.94G="
      ],
      "proteinEffect": {
        "hgvs": "NP_068712.1:p.Gly32="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698461"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 198,
          "referenceAllele": "G",
          "start": 197
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004083",
      "geneNCBI_id": 2562,
      "geneSymbol": "GABRB3",
      "hgvs": [
        "NM_001278631.2:c.-258G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001265560.1:n.-258G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715617"
    }
  ],
  "type": "nucleotide"
}