{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA8772378",
  "communityStandardTitle": [
    "NM_199242.3(UNC13D):c.2830+7G>A"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=345963[alleleid]",
        "alleleId": 345963,
        "preferredName": "NM_199242.3(UNC13D):c.2830+7G>A"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/325246",
        "RCV": [
          "RCV000972185",
          "RCV001702001",
          "RCV003940289"
        ],
        "variationId": 325246
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/17-73826436-C-T",
        "id": "17-73826436-C-T",
        "variant": "17:73826436 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.73826436C>T?assembly=hg19",
        "id": "chr17:g.73826436C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.75830355C>T?assembly=hg38",
        "id": "chr17:g.75830355C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/201023196",
        "rs": 201023196
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-73826436-C-T?dataset=gnomad_r2_1",
        "id": "17-73826436-C-T",
        "variant": "17:73826436 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-75830355-C-T?dataset=gnomad_r3",
        "id": "17-75830355-C-T",
        "variant": "17:75830355 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-75830355-C-T?dataset=gnomad_r4",
        "id": "17-75830355-C-T",
        "variant": "17:75830355 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 75830355,
          "referenceAllele": "C",
          "start": 75830354
        }
      ],
      "hgvs": [
        "NC_000017.11:g.75830355C>T",
        "CM000679.2:g.75830355C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 73826436,
          "referenceAllele": "C",
          "start": 73826435
        }
      ],
      "hgvs": [
        "NC_000017.10:g.73826436C>T",
        "CM000679.1:g.73826436C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 71338031,
          "referenceAllele": "C",
          "start": 71338030
        }
      ],
      "hgvs": [
        "NC_000017.9:g.71338031C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 19363,
          "referenceAllele": "G",
          "start": 19362
        }
      ],
      "hgvs": [
        "NG_007266.1:g.19363G>A",
        "LRG_122:g.19363G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000514"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1696,
          "endIntronDirection": "+",
          "endIntronOffset": 7,
          "referenceAllele": "G",
          "start": 1696,
          "startIntronDirection": "+",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "ENST00000699510.1:c.1696+7G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514405.1:n.1696+7G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910398"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2897,
          "endIntronDirection": "+",
          "endIntronOffset": 7,
          "referenceAllele": "G",
          "start": 2897,
          "startIntronDirection": "+",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "ENST00000207549.9:c.2830+7G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000207549.3:n.2830+7G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740189",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000207549.9:c.2830+7G>A"
          },
          "RefSeq": {
            "hgvs": "NM_199242.3:c.2830+7G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000207549.3:n.2830+7G>A"
          },
          "RefSeq": {
            "hgvs": "NP_954712.1:n.2830+7G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3210,
          "endIntronDirection": "+",
          "endIntronOffset": 7,
          "referenceAllele": "G",
          "start": 3210,
          "startIntronDirection": "+",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "ENST00000207549.8:c.2830+7G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000207549.3:n.2830+7G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247840"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2843,
          "endIntronDirection": "+",
          "endIntronOffset": 7,
          "referenceAllele": "G",
          "start": 2843,
          "startIntronDirection": "+",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "ENST00000412096.6:c.2830+7G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388093.1:n.2830+7G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS282458"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 76,
          "endIntronDirection": "+",
          "endIntronOffset": 7,
          "referenceAllele": "G",
          "start": 76,
          "startIntronDirection": "+",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "ENST00000586519.1:c.76+7G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466149.1:n.76+7G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS389443"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 205,
          "endIntronDirection": "+",
          "endIntronOffset": 7,
          "referenceAllele": "G",
          "start": 205,
          "startIntronDirection": "+",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "ENST00000590856.1:n.205+7G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS392485"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3210,
          "endIntronDirection": "+",
          "endIntronOffset": 7,
          "referenceAllele": "G",
          "start": 3210,
          "startIntronDirection": "+",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "NM_199242.2:c.2830+7G>A",
        "LRG_122t1:c.2830+7G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_954712.1:n.2830+7G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044881"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2912,
          "endIntronDirection": "+",
          "endIntronOffset": 7,
          "referenceAllele": "G",
          "start": 2912,
          "startIntronDirection": "+",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "XM_011524504.1:c.2899+7G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522806.1:n.2899+7G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091628"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2912,
          "endIntronDirection": "+",
          "endIntronOffset": 7,
          "referenceAllele": "G",
          "start": 2912,
          "startIntronDirection": "+",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "XM_011524505.1:c.2899+7G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522807.1:n.2899+7G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091629"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2909,
          "endIntronDirection": "+",
          "endIntronOffset": 7,
          "referenceAllele": "G",
          "start": 2909,
          "startIntronDirection": "+",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "XM_011524506.1:c.2896+7G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522808.1:n.2896+7G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091630"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3362,
          "endIntronDirection": "+",
          "endIntronOffset": 7,
          "referenceAllele": "G",
          "start": 3362,
          "startIntronDirection": "+",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "XM_011524507.1:c.2290+7G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522809.1:n.2290+7G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091631"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2348,
          "endIntronDirection": "+",
          "endIntronOffset": 7,
          "referenceAllele": "G",
          "start": 2348,
          "startIntronDirection": "+",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "XM_011524508.1:c.2290+7G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522810.1:n.2290+7G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091632"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2971,
          "endIntronDirection": "+",
          "endIntronOffset": 7,
          "referenceAllele": "G",
          "start": 2971,
          "startIntronDirection": "+",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "XM_011524504.2:c.2899+7G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522806.1:n.2899+7G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547490"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3309,
          "endIntronDirection": "+",
          "endIntronOffset": 7,
          "referenceAllele": "G",
          "start": 3309,
          "startIntronDirection": "+",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "XM_011524507.2:c.2290+7G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522809.1:n.2290+7G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547491"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2384,
          "endIntronDirection": "+",
          "endIntronOffset": 7,
          "referenceAllele": "G",
          "start": 2384,
          "startIntronDirection": "+",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "XM_024450640.1:c.2290+7G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306408.1:n.2290+7G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584174"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2897,
          "endIntronDirection": "+",
          "endIntronOffset": 7,
          "referenceAllele": "G",
          "start": 2897,
          "startIntronDirection": "+",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "NM_199242.3:c.2830+7G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_954712.1:n.2830+7G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729979",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000207549.9:c.2830+7G>A"
          },
          "RefSeq": {
            "hgvs": "NM_199242.3:c.2830+7G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000207549.3:n.2830+7G>A"
          },
          "RefSeq": {
            "hgvs": "NP_954712.1:n.2830+7G>A"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}