{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA8773676",
  "communityStandardTitle": [
    "NM_199242.3(UNC13D):c.99G>A (p.Pro33=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=256453[alleleid]",
        "alleleId": 256453,
        "preferredName": "NM_199242.3(UNC13D):c.99G>A (p.Pro33=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/263249",
        "RCV": [
          "RCV000640121",
          "RCV002262919",
          "RCV003891999"
        ],
        "variationId": 263249
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/17-73840320-C-T",
        "id": "17-73840320-C-T",
        "variant": "17:73840320 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.73840320C>T?assembly=hg19",
        "id": "chr17:g.73840320C>T"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.73840320_73840321delinsTG?assembly=hg19",
        "id": "chr17:g.73840320_73840321delinsTG"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.75844239C>T?assembly=hg38",
        "id": "chr17:g.75844239C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/147886860",
        "rs": 147886860
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-73840320-C-T?dataset=gnomad_r2_1",
        "id": "17-73840320-C-T",
        "variant": "17:73840320 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-75844239-C-T?dataset=gnomad_r3",
        "id": "17-75844239-C-T",
        "variant": "17:75844239 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-75844239-C-T?dataset=gnomad_r4",
        "id": "17-75844239-C-T",
        "variant": "17:75844239 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 75844239,
          "referenceAllele": "C",
          "start": 75844238
        }
      ],
      "hgvs": [
        "NC_000017.11:g.75844239C>T",
        "CM000679.2:g.75844239C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 73840320,
          "referenceAllele": "C",
          "start": 73840319
        }
      ],
      "hgvs": [
        "NC_000017.10:g.73840320C>T",
        "CM000679.1:g.73840320C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 71351915,
          "referenceAllele": "C",
          "start": 71351914
        }
      ],
      "hgvs": [
        "NC_000017.9:g.71351915C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5479,
          "referenceAllele": "G",
          "start": 5478
        }
      ],
      "hgvs": [
        "NG_007266.1:g.5479G>A",
        "LRG_122:g.5479G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000514"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 185,
          "referenceAllele": "G",
          "start": 184
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "ENST00000588774.2:n.185G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS906085"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 99,
          "referenceAllele": "G",
          "start": 98
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "ENST00000592386.6:c.99G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466826.2:p.Pro33="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906114"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 109,
          "referenceAllele": "G",
          "start": 108
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "ENST00000699512.1:c.-7G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514407.1:n.-7G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910400"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 478,
          "referenceAllele": "G",
          "start": 477
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "ENST00000699513.1:c.99G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514408.1:p.Pro33="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910401"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 166,
          "referenceAllele": "G",
          "start": 165
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "ENST00000207549.9:c.99G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000207549.3:p.Pro33="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740189",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000207549.9:c.99G>A"
          },
          "RefSeq": {
            "hgvs": "NM_199242.3:c.99G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000207549.3:p.Pro33="
          },
          "RefSeq": {
            "hgvs": "NP_954712.1:p.Pro33="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 479,
          "referenceAllele": "G",
          "start": 478
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "ENST00000207549.8:c.99G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000207549.3:p.Pro33="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247840"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 112,
          "referenceAllele": "G",
          "start": 111
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "ENST00000412096.6:c.99G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388093.1:p.Pro33="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS282458"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 165,
          "referenceAllele": "G",
          "start": 164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "ENST00000586108.1:c.99G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000464749.1:p.Pro33="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS389169"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 122,
          "referenceAllele": "G",
          "start": 121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "ENST00000586147.1:c.99G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466543.1:p.Pro33="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS389201"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 75,
          "referenceAllele": "G",
          "start": 74
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "ENST00000588774.1:n.75G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS391020"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 180,
          "referenceAllele": "G",
          "start": 179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "ENST00000591563.5:n.180G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS392953"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 96,
          "referenceAllele": "G",
          "start": 95
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "ENST00000592386.5:c.96G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466826.1:p.Pro32="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS393530"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830430884",
      "coordinates": [
        {
          "allele": "A",
          "end": 479,
          "referenceAllele": "G",
          "start": 478
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "NM_199242.2:c.99G>A",
        "LRG_122t1:c.99G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_954712.1:p.Pro33="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044881"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 112,
          "referenceAllele": "G",
          "start": 111
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "XM_011524504.1:c.99G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522806.1:p.Pro33="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091628"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 112,
          "referenceAllele": "G",
          "start": 111
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "XM_011524505.1:c.99G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522807.1:p.Pro33="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091629"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 112,
          "referenceAllele": "G",
          "start": 111
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "XM_011524506.1:c.99G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522808.1:p.Pro33="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091630"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 133,
          "referenceAllele": "G",
          "start": 132
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "XM_011524507.1:c.-940G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522809.1:n.-940G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091631"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 171,
          "referenceAllele": "G",
          "start": 170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "XM_011524504.2:c.99G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522806.1:p.Pro33="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547490"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 80,
          "referenceAllele": "G",
          "start": 79
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "XM_011524507.2:c.-940G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522809.1:n.-940G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547491"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830430884",
      "coordinates": [
        {
          "allele": "A",
          "end": 166,
          "referenceAllele": "G",
          "start": 165
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "NM_199242.3:c.99G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_954712.1:p.Pro33="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729979",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000207549.9:c.99G>A"
          },
          "RefSeq": {
            "hgvs": "NM_199242.3:c.99G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000207549.3:p.Pro33="
          },
          "RefSeq": {
            "hgvs": "NP_954712.1:p.Pro33="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}