{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA8772646",
  "communityStandardTitle": [
    "NM_199242.3(UNC13D):c.2180G>A (p.Arg727Gln)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=345987[alleleid]",
        "alleleId": 345987,
        "preferredName": "NM_199242.3(UNC13D):c.2180G>A (p.Arg727Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/325256",
        "RCV": [
          "RCV003401341",
          "RCV002263026",
          "RCV000355372"
        ],
        "variationId": 325256
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/17-73830524-C-T",
        "id": "17-73830524-C-T",
        "variant": "17:73830524 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.73830524C>T?assembly=hg19",
        "id": "chr17:g.73830524C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.75834443C>T?assembly=hg38",
        "id": "chr17:g.75834443C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/747390615",
        "rs": 747390615
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-73830524-C-T?dataset=gnomad_r2_1",
        "id": "17-73830524-C-T",
        "variant": "17:73830524 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-75834443-C-T?dataset=gnomad_r3",
        "id": "17-75834443-C-T",
        "variant": "17:75834443 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-75834443-C-T?dataset=gnomad_r4",
        "id": "17-75834443-C-T",
        "variant": "17:75834443 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 75834443,
          "referenceAllele": "C",
          "start": 75834442
        }
      ],
      "hgvs": [
        "NC_000017.11:g.75834443C>T",
        "CM000679.2:g.75834443C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 73830524,
          "referenceAllele": "C",
          "start": 73830523
        }
      ],
      "hgvs": [
        "NC_000017.10:g.73830524C>T",
        "CM000679.1:g.73830524C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 71342119,
          "referenceAllele": "C",
          "start": 71342118
        }
      ],
      "hgvs": [
        "NC_000017.9:g.71342119C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 15275,
          "referenceAllele": "G",
          "start": 15274
        }
      ],
      "hgvs": [
        "NG_007266.1:g.15275G>A",
        "LRG_122:g.15275G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000514"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1046,
          "referenceAllele": "G",
          "start": 1045
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "ENST00000699510.1:c.1046G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514405.1:p.Arg349Gln",
        "hgvsWellDefined": "ENSP00000514405.1:p.Arg349Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910398"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2247,
          "referenceAllele": "G",
          "start": 2246
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "ENST00000207549.9:c.2180G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000207549.3:p.Arg727Gln",
        "hgvsWellDefined": "ENSP00000207549.3:p.Arg727Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740189",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000207549.9:c.2180G>A"
          },
          "RefSeq": {
            "hgvs": "NM_199242.3:c.2180G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000207549.3:p.Arg727Gln"
          },
          "RefSeq": {
            "hgvs": "NP_954712.1:p.Arg727Gln"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2560,
          "referenceAllele": "G",
          "start": 2559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "ENST00000207549.8:c.2180G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000207549.3:p.Arg727Gln",
        "hgvsWellDefined": "ENSP00000207549.3:p.Arg727Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247840"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2193,
          "referenceAllele": "G",
          "start": 2192
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "ENST00000412096.6:c.2180G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388093.1:p.Arg727Gln",
        "hgvsWellDefined": "ENSP00000388093.1:p.Arg727Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS282458"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2450,
          "referenceAllele": "G",
          "start": 2449
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "ENST00000591563.5:n.2450G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS392953"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 541,
          "referenceAllele": "G",
          "start": 540
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "ENST00000591616.1:n.541G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS392995"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645481211",
      "coordinates": [
        {
          "allele": "A",
          "end": 2560,
          "referenceAllele": "G",
          "start": 2559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "NM_199242.2:c.2180G>A",
        "LRG_122t1:c.2180G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_954712.1:p.Arg727Gln",
        "hgvsWellDefined": "NP_954712.1:p.Arg727Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044881"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2193,
          "referenceAllele": "G",
          "start": 2192
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "XM_011524504.1:c.2180G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522806.1:p.Arg727Gln",
        "hgvsWellDefined": "XP_011522806.1:p.Arg727Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091628"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2193,
          "referenceAllele": "G",
          "start": 2192
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "XM_011524505.1:c.2180G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522807.1:p.Arg727Gln",
        "hgvsWellDefined": "XP_011522807.1:p.Arg727Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091629"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2190,
          "referenceAllele": "G",
          "start": 2189
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "XM_011524506.1:c.2177G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522808.1:p.Arg726Gln",
        "hgvsWellDefined": "XP_011522808.1:p.Arg726Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091630"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2643,
          "referenceAllele": "G",
          "start": 2642
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "XM_011524507.1:c.1571G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522809.1:p.Arg524Gln",
        "hgvsWellDefined": "XP_011522809.1:p.Arg524Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091631"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1629,
          "referenceAllele": "G",
          "start": 1628
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "XM_011524508.1:c.1571G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522810.1:p.Arg524Gln",
        "hgvsWellDefined": "XP_011522810.1:p.Arg524Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091632"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2252,
          "referenceAllele": "G",
          "start": 2251
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "XM_011524504.2:c.2180G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522806.1:p.Arg727Gln",
        "hgvsWellDefined": "XP_011522806.1:p.Arg727Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547490"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2590,
          "referenceAllele": "G",
          "start": 2589
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "XM_011524507.2:c.1571G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522809.1:p.Arg524Gln",
        "hgvsWellDefined": "XP_011522809.1:p.Arg524Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547491"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1665,
          "referenceAllele": "G",
          "start": 1664
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "XM_024450640.1:c.1571G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306408.1:p.Arg524Gln",
        "hgvsWellDefined": "XP_024306408.1:p.Arg524Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584174"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645481211",
      "coordinates": [
        {
          "allele": "A",
          "end": 2247,
          "referenceAllele": "G",
          "start": 2246
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "NM_199242.3:c.2180G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_954712.1:p.Arg727Gln",
        "hgvsWellDefined": "NP_954712.1:p.Arg727Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729979",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000207549.9:c.2180G>A"
          },
          "RefSeq": {
            "hgvs": "NM_199242.3:c.2180G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000207549.3:p.Arg727Gln"
          },
          "RefSeq": {
            "hgvs": "NP_954712.1:p.Arg727Gln"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}