{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA8773573",
  "communityStandardTitle": [
    "NM_199242.3(UNC13D):c.261+9G>A"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1126780[alleleid]",
        "alleleId": 1126780,
        "preferredName": "NM_199242.3(UNC13D):c.261+9G>A"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1134552",
        "RCV": [
          "RCV001469516",
          "RCV002264338"
        ],
        "variationId": 1134552
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/17-73839231-C-T",
        "id": "17-73839231-C-T",
        "variant": "17:73839231 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.73839231C>T?assembly=hg19",
        "id": "chr17:g.73839231C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.75843150C>T?assembly=hg38",
        "id": "chr17:g.75843150C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/754902598",
        "rs": 754902598
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-73839231-C-T?dataset=gnomad_r2_1",
        "id": "17-73839231-C-T",
        "variant": "17:73839231 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-75843150-C-T?dataset=gnomad_r3",
        "id": "17-75843150-C-T",
        "variant": "17:75843150 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-75843150-C-T?dataset=gnomad_r4",
        "id": "17-75843150-C-T",
        "variant": "17:75843150 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 75843150,
          "referenceAllele": "C",
          "start": 75843149
        }
      ],
      "hgvs": [
        "NC_000017.11:g.75843150C>T",
        "CM000679.2:g.75843150C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 73839231,
          "referenceAllele": "C",
          "start": 73839230
        }
      ],
      "hgvs": [
        "NC_000017.10:g.73839231C>T",
        "CM000679.1:g.73839231C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 71350826,
          "referenceAllele": "C",
          "start": 71350825
        }
      ],
      "hgvs": [
        "NC_000017.9:g.71350826C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6568,
          "referenceAllele": "G",
          "start": 6567
        }
      ],
      "hgvs": [
        "NG_007266.1:g.6568G>A",
        "LRG_122:g.6568G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000514"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 237,
          "endIntronDirection": "+",
          "endIntronOffset": 9,
          "referenceAllele": "G",
          "start": 237,
          "startIntronDirection": "+",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "ENST00000585574.6:c.204+9G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514389.1:n.204+9G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906057"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 226,
          "endIntronDirection": "+",
          "endIntronOffset": 9,
          "referenceAllele": "G",
          "start": 226,
          "startIntronDirection": "+",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "ENST00000587504.6:c.204+9G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514388.1:n.204+9G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906071"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 243,
          "endIntronDirection": "+",
          "endIntronOffset": 9,
          "referenceAllele": "G",
          "start": 243,
          "startIntronDirection": "+",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "ENST00000592386.6:c.243+9G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466826.2:n.243+9G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906114"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 271,
          "endIntronDirection": "+",
          "endIntronOffset": 9,
          "referenceAllele": "G",
          "start": 271,
          "startIntronDirection": "+",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "ENST00000699512.1:c.156+9G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514407.1:n.156+9G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910400"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 640,
          "endIntronDirection": "+",
          "endIntronOffset": 9,
          "referenceAllele": "G",
          "start": 640,
          "startIntronDirection": "+",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "ENST00000699513.1:c.261+9G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514408.1:n.261+9G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910401"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 328,
          "endIntronDirection": "+",
          "endIntronOffset": 9,
          "referenceAllele": "G",
          "start": 328,
          "startIntronDirection": "+",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "ENST00000207549.9:c.261+9G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000207549.3:n.261+9G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740189",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000207549.9:c.261+9G>A"
          },
          "RefSeq": {
            "hgvs": "NM_199242.3:c.261+9G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000207549.3:n.261+9G>A"
          },
          "RefSeq": {
            "hgvs": "NP_954712.1:n.261+9G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 641,
          "endIntronDirection": "+",
          "endIntronOffset": 9,
          "referenceAllele": "G",
          "start": 641,
          "startIntronDirection": "+",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "ENST00000207549.8:c.261+9G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000207549.3:n.261+9G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247840"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 274,
          "endIntronDirection": "+",
          "endIntronOffset": 9,
          "referenceAllele": "G",
          "start": 274,
          "startIntronDirection": "+",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "ENST00000412096.6:c.261+9G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388093.1:n.261+9G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS282458"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 237,
          "endIntronDirection": "+",
          "endIntronOffset": 9,
          "referenceAllele": "G",
          "start": 237,
          "startIntronDirection": "+",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "ENST00000585574.5:n.237+9G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS388813"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 327,
          "endIntronDirection": "+",
          "endIntronOffset": 9,
          "referenceAllele": "G",
          "start": 327,
          "startIntronDirection": "+",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "ENST00000586108.1:c.261+9G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000464749.1:n.261+9G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS389169"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 140,
          "endIntronDirection": "+",
          "endIntronOffset": 1071,
          "referenceAllele": "G",
          "start": 140,
          "startIntronDirection": "+",
          "startIntronOffset": 1070
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "ENST00000586147.1:c.117+1071G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466543.1:n.117+1071G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS389201"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 226,
          "endIntronDirection": "+",
          "endIntronOffset": 9,
          "referenceAllele": "G",
          "start": 226,
          "startIntronDirection": "+",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "ENST00000587504.5:n.226+9G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS390131"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 251,
          "endIntronDirection": "+",
          "endIntronOffset": 9,
          "referenceAllele": "G",
          "start": 251,
          "startIntronDirection": "+",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "ENST00000590762.5:c.204+9G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467653.1:n.204+9G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS392417"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 342,
          "endIntronDirection": "+",
          "endIntronOffset": 9,
          "referenceAllele": "G",
          "start": 342,
          "startIntronDirection": "+",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "ENST00000591563.5:n.342+9G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS392953"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 240,
          "endIntronDirection": "+",
          "endIntronOffset": 9,
          "referenceAllele": "G",
          "start": 240,
          "startIntronDirection": "+",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "ENST00000592386.5:c.240+9G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466826.1:n.240+9G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS393530"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 641,
          "endIntronDirection": "+",
          "endIntronOffset": 9,
          "referenceAllele": "G",
          "start": 641,
          "startIntronDirection": "+",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "NM_199242.2:c.261+9G>A",
        "LRG_122t1:c.261+9G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_954712.1:n.261+9G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044881"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 274,
          "endIntronDirection": "+",
          "endIntronOffset": 9,
          "referenceAllele": "G",
          "start": 274,
          "startIntronDirection": "+",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "XM_011524504.1:c.261+9G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522806.1:n.261+9G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091628"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 274,
          "endIntronDirection": "+",
          "endIntronOffset": 9,
          "referenceAllele": "G",
          "start": 274,
          "startIntronDirection": "+",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "XM_011524505.1:c.261+9G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522807.1:n.261+9G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091629"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 274,
          "endIntronDirection": "+",
          "endIntronOffset": 9,
          "referenceAllele": "G",
          "start": 274,
          "startIntronDirection": "+",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "XM_011524506.1:c.261+9G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522808.1:n.261+9G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091630"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 724,
          "endIntronDirection": "+",
          "endIntronOffset": 9,
          "referenceAllele": "G",
          "start": 724,
          "startIntronDirection": "+",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "XM_011524507.1:c.-349+9G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522809.1:n.-349+9G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091631"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 333,
          "endIntronDirection": "+",
          "endIntronOffset": 9,
          "referenceAllele": "G",
          "start": 333,
          "startIntronDirection": "+",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "XM_011524504.2:c.261+9G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522806.1:n.261+9G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547490"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 671,
          "endIntronDirection": "+",
          "endIntronOffset": 9,
          "referenceAllele": "G",
          "start": 671,
          "startIntronDirection": "+",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "XM_011524507.2:c.-349+9G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522809.1:n.-349+9G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547491"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 328,
          "endIntronDirection": "+",
          "endIntronOffset": 9,
          "referenceAllele": "G",
          "start": 328,
          "startIntronDirection": "+",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "NM_199242.3:c.261+9G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_954712.1:n.261+9G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729979",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000207549.9:c.261+9G>A"
          },
          "RefSeq": {
            "hgvs": "NM_199242.3:c.261+9G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000207549.3:n.261+9G>A"
          },
          "RefSeq": {
            "hgvs": "NP_954712.1:n.261+9G>A"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}