{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA4324085",
  "communityStandardTitle": [
    "NM_000840.3(GRM3):c.879C>T (p.Ala293=)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "active": false,
        "id": "COSM3750048"
      },
      {
        "active": false,
        "id": "COSM3750049"
      },
      {
        "active": false,
        "id": "COSM5826430"
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/7-86415987-C-T",
        "id": "7-86415987-C-T",
        "variant": "7:86415987 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.86415987C>T?assembly=hg19",
        "id": "chr7:g.86415987C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.86786671C>T?assembly=hg38",
        "id": "chr7:g.86786671C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2228595",
        "rs": 2228595
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-86415987-C-T?dataset=gnomad_r2_1",
        "id": "7-86415987-C-T",
        "variant": "7:86415987 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-86786671-C-T?dataset=gnomad_r3",
        "id": "7-86786671-C-T",
        "variant": "7:86786671 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-86786671-C-T?dataset=gnomad_r4",
        "id": "7-86786671-C-T",
        "variant": "7:86786671 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "T",
          "end": 86786671,
          "referenceAllele": "C",
          "start": 86786670
        }
      ],
      "hgvs": [
        "NC_000007.14:g.86786671C>T",
        "CM000669.2:g.86786671C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "T",
          "end": 86415987,
          "referenceAllele": "C",
          "start": 86415986
        }
      ],
      "hgvs": [
        "NC_000007.13:g.86415987C>T",
        "CM000669.1:g.86415987C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "T",
          "end": 86253923,
          "referenceAllele": "C",
          "start": 86253922
        }
      ],
      "hgvs": [
        "NC_000007.12:g.86253923C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1983,
          "referenceAllele": "C",
          "start": 1982
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004595",
      "geneNCBI_id": 2913,
      "geneSymbol": "GRM3",
      "hgvs": [
        "ENST00000361669.7:c.879C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355316.2:p.Ala293="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824163",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000361669.7:c.879C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000840.3:c.879C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355316.2:p.Ala293="
          },
          "RefSeq": {
            "hgvs": "NP_000831.2:p.Ala293="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1978,
          "referenceAllele": "C",
          "start": 1977
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004595",
      "geneNCBI_id": 2913,
      "geneSymbol": "GRM3",
      "hgvs": [
        "ENST00000361669.6:c.879C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355316.2:p.Ala293="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265587"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1050,
          "referenceAllele": "C",
          "start": 1049
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004595",
      "geneNCBI_id": 2913,
      "geneSymbol": "GRM3",
      "hgvs": [
        "ENST00000439827.1:c.879C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000398767.1:p.Ala293="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295607"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 750,
          "referenceAllele": "C",
          "start": 749
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004595",
      "geneNCBI_id": 2913,
      "geneSymbol": "GRM3",
      "hgvs": [
        "ENST00000454217.1:c.495C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000405427.1:p.Ala165="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS302470"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3073443157",
      "coordinates": [
        {
          "allele": "T",
          "end": 1978,
          "referenceAllele": "C",
          "start": 1977
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004595",
      "geneNCBI_id": 2913,
      "geneSymbol": "GRM3",
      "hgvs": [
        "NM_000840.2:c.879C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000831.2:p.Ala293="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006868"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1152,
          "referenceAllele": "C",
          "start": 1151
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004595",
      "geneNCBI_id": 2913,
      "geneSymbol": "GRM3",
      "hgvs": [
        "XM_011516088.1:c.879C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514390.1:p.Ala293="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083291"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1152,
          "referenceAllele": "C",
          "start": 1151
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004595",
      "geneNCBI_id": 2913,
      "geneSymbol": "GRM3",
      "hgvs": [
        "XM_011516089.1:c.879C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514391.1:p.Ala293="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083292"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1152,
          "referenceAllele": "C",
          "start": 1151
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004595",
      "geneNCBI_id": 2913,
      "geneSymbol": "GRM3",
      "hgvs": [
        "XM_011516090.1:c.879C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514392.1:p.Ala293="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083293"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1425,
          "endIntronDirection": "+",
          "endIntronOffset": 6516,
          "referenceAllele": "G",
          "start": 1425,
          "startIntronDirection": "+",
          "startIntronOffset": 6515
        }
      ],
      "hgvs": [
        "XR_927721.1:n.1425+6516G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS124126"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1983,
          "referenceAllele": "C",
          "start": 1982
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004595",
      "geneNCBI_id": 2913,
      "geneSymbol": "GRM3",
      "hgvs": [
        "NM_001363522.1:c.879C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350451.1:p.Ala293="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523349"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1357,
          "referenceAllele": "C",
          "start": 1356
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004595",
      "geneNCBI_id": 2913,
      "geneSymbol": "GRM3",
      "hgvs": [
        "XM_017012073.2:c.879C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867562.1:p.Ala293="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565767"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 90,
          "endIntronDirection": "+",
          "endIntronOffset": 6516,
          "referenceAllele": "G",
          "start": 90,
          "startIntronDirection": "+",
          "startIntronOffset": 6515
        }
      ],
      "hgvs": [
        "XR_002956570.1:n.90+6516G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS602713"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 88,
          "endIntronDirection": "+",
          "endIntronOffset": 7949,
          "referenceAllele": "G",
          "start": 88,
          "startIntronDirection": "+",
          "startIntronOffset": 7948
        }
      ],
      "hgvs": [
        "XR_002956571.1:n.88+7949G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS602714"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3073443157",
      "coordinates": [
        {
          "allele": "T",
          "end": 1983,
          "referenceAllele": "C",
          "start": 1982
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004595",
      "geneNCBI_id": 2913,
      "geneSymbol": "GRM3",
      "hgvs": [
        "NM_000840.3:c.879C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000831.2:p.Ala293="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710882",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000361669.7:c.879C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000840.3:c.879C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355316.2:p.Ala293="
          },
          "RefSeq": {
            "hgvs": "NP_000831.2:p.Ala293="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1983,
          "referenceAllele": "C",
          "start": 1982
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004595",
      "geneNCBI_id": 2913,
      "geneSymbol": "GRM3",
      "hgvs": [
        "NM_001363522.2:c.879C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350451.1:p.Ala293="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720738"
    }
  ],
  "type": "nucleotide"
}