{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA8772566",
  "communityStandardTitle": [
    "NM_199242.3(UNC13D):c.2370C>T (p.Ala790=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1686645[alleleid]",
        "alleleId": 1686645,
        "preferredName": "NM_199242.3(UNC13D):c.2370C>T (p.Ala790=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1694210",
        "RCV": [
          "RCV002264556",
          "RCV003101475",
          "RCV003903644"
        ],
        "variationId": 1694210
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/17-73829124-G-A",
        "id": "17-73829124-G-A",
        "variant": "17:73829124 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.73829124G>A?assembly=hg19",
        "id": "chr17:g.73829124G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.75833043G>A?assembly=hg38",
        "id": "chr17:g.75833043G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/747428323",
        "rs": 747428323
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-73829124-G-A?dataset=gnomad_r2_1",
        "id": "17-73829124-G-A",
        "variant": "17:73829124 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-75833043-G-A?dataset=gnomad_r3",
        "id": "17-75833043-G-A",
        "variant": "17:75833043 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-75833043-G-A?dataset=gnomad_r4",
        "id": "17-75833043-G-A",
        "variant": "17:75833043 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 75833043,
          "referenceAllele": "G",
          "start": 75833042
        }
      ],
      "hgvs": [
        "NC_000017.11:g.75833043G>A",
        "CM000679.2:g.75833043G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 73829124,
          "referenceAllele": "G",
          "start": 73829123
        }
      ],
      "hgvs": [
        "NC_000017.10:g.73829124G>A",
        "CM000679.1:g.73829124G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 71340719,
          "referenceAllele": "G",
          "start": 71340718
        }
      ],
      "hgvs": [
        "NC_000017.9:g.71340719G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 16675,
          "referenceAllele": "C",
          "start": 16674
        }
      ],
      "hgvs": [
        "NG_007266.1:g.16675C>T",
        "LRG_122:g.16675C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000514"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1236,
          "referenceAllele": "C",
          "start": 1235
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "ENST00000699510.1:c.1236C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514405.1:p.Ala412="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910398"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2437,
          "referenceAllele": "C",
          "start": 2436
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "ENST00000207549.9:c.2370C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000207549.3:p.Ala790="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740189",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000207549.9:c.2370C>T"
          },
          "RefSeq": {
            "hgvs": "NM_199242.3:c.2370C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000207549.3:p.Ala790="
          },
          "RefSeq": {
            "hgvs": "NP_954712.1:p.Ala790="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2750,
          "referenceAllele": "C",
          "start": 2749
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "ENST00000207549.8:c.2370C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000207549.3:p.Ala790="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247840"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2383,
          "referenceAllele": "C",
          "start": 2382
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "ENST00000412096.6:c.2370C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388093.1:p.Ala790="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS282458"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 80,
          "referenceAllele": "C",
          "start": 79
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "ENST00000586930.1:n.80C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS389741"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2640,
          "referenceAllele": "C",
          "start": 2639
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "ENST00000591563.5:n.2640C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS392953"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830431930",
      "coordinates": [
        {
          "allele": "T",
          "end": 2750,
          "referenceAllele": "C",
          "start": 2749
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "NM_199242.2:c.2370C>T",
        "LRG_122t1:c.2370C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_954712.1:p.Ala790="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044881"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2383,
          "referenceAllele": "C",
          "start": 2382
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "XM_011524504.1:c.2370C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522806.1:p.Ala790="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091628"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2383,
          "referenceAllele": "C",
          "start": 2382
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "XM_011524505.1:c.2370C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522807.1:p.Ala790="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091629"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2380,
          "referenceAllele": "C",
          "start": 2379
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "XM_011524506.1:c.2367C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522808.1:p.Ala789="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091630"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2833,
          "referenceAllele": "C",
          "start": 2832
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "XM_011524507.1:c.1761C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522809.1:p.Ala587="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091631"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1819,
          "referenceAllele": "C",
          "start": 1818
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "XM_011524508.1:c.1761C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522810.1:p.Ala587="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091632"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2442,
          "referenceAllele": "C",
          "start": 2441
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "XM_011524504.2:c.2370C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522806.1:p.Ala790="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547490"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2780,
          "referenceAllele": "C",
          "start": 2779
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "XM_011524507.2:c.1761C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522809.1:p.Ala587="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547491"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1855,
          "referenceAllele": "C",
          "start": 1854
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "XM_024450640.1:c.1761C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306408.1:p.Ala587="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584174"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830431930",
      "coordinates": [
        {
          "allele": "T",
          "end": 2437,
          "referenceAllele": "C",
          "start": 2436
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "NM_199242.3:c.2370C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_954712.1:p.Ala790="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729979",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000207549.9:c.2370C>T"
          },
          "RefSeq": {
            "hgvs": "NM_199242.3:c.2370C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000207549.3:p.Ala790="
          },
          "RefSeq": {
            "hgvs": "NP_954712.1:p.Ala790="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}