{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA294090505",
  "communityStandardTitle": [
    "NM_199242.3(UNC13D):c.118-307G>A"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1289362[alleleid]",
        "alleleId": 1289362,
        "preferredName": "NM_199242.3(UNC13D):c.118-307G>A"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1299415",
        "RCV": [
          "RCV001728113"
        ],
        "variationId": 1299415
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.73839907C>T?assembly=hg19",
        "id": "chr17:g.73839907C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.75843826C>T?assembly=hg38",
        "id": "chr17:g.75843826C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1019391145",
        "rs": 1019391145
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-75843826-C-T?dataset=gnomad_r4",
        "id": "17-75843826-C-T",
        "variant": "17:75843826 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 75843826,
          "referenceAllele": "C",
          "start": 75843825
        }
      ],
      "hgvs": [
        "NC_000017.11:g.75843826C>T",
        "CM000679.2:g.75843826C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 73839907,
          "referenceAllele": "C",
          "start": 73839906
        }
      ],
      "hgvs": [
        "NC_000017.10:g.73839907C>T",
        "CM000679.1:g.73839907C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 71351502,
          "referenceAllele": "C",
          "start": 71351501
        }
      ],
      "hgvs": [
        "NC_000017.9:g.71351502C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5892,
          "referenceAllele": "G",
          "start": 5891
        }
      ],
      "hgvs": [
        "NG_007266.1:g.5892G>A",
        "LRG_122:g.5892G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000514"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 598,
          "referenceAllele": "G",
          "start": 597
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "ENST00000588774.2:n.598G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS906085"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 117,
          "endIntronDirection": "-",
          "endIntronOffset": 306,
          "referenceAllele": "G",
          "start": 117,
          "startIntronDirection": "-",
          "startIntronOffset": 307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "ENST00000592386.6:c.118-307G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466826.2:n.118-307G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906114"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 127,
          "endIntronDirection": "-",
          "endIntronOffset": 306,
          "referenceAllele": "G",
          "start": 127,
          "startIntronDirection": "-",
          "startIntronOffset": 307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "ENST00000699512.1:c.13-307G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514407.1:n.13-307G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910400"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 496,
          "endIntronDirection": "-",
          "endIntronOffset": 306,
          "referenceAllele": "G",
          "start": 496,
          "startIntronDirection": "-",
          "startIntronOffset": 307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "ENST00000699513.1:c.118-307G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514408.1:n.118-307G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910401"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 184,
          "endIntronDirection": "-",
          "endIntronOffset": 306,
          "referenceAllele": "G",
          "start": 184,
          "startIntronDirection": "-",
          "startIntronOffset": 307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "ENST00000207549.9:c.118-307G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000207549.3:n.118-307G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740189",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000207549.9:c.118-307G>A"
          },
          "RefSeq": {
            "hgvs": "NM_199242.3:c.118-307G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000207549.3:n.118-307G>A"
          },
          "RefSeq": {
            "hgvs": "NP_954712.1:n.118-307G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 497,
          "endIntronDirection": "-",
          "endIntronOffset": 306,
          "referenceAllele": "G",
          "start": 497,
          "startIntronDirection": "-",
          "startIntronOffset": 307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "ENST00000207549.8:c.118-307G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000207549.3:n.118-307G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247840"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 130,
          "endIntronDirection": "-",
          "endIntronOffset": 306,
          "referenceAllele": "G",
          "start": 130,
          "startIntronDirection": "-",
          "startIntronOffset": 307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "ENST00000412096.6:c.118-307G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388093.1:n.118-307G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS282458"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 183,
          "endIntronDirection": "-",
          "endIntronOffset": 306,
          "referenceAllele": "G",
          "start": 183,
          "startIntronDirection": "-",
          "startIntronOffset": 307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "ENST00000586108.1:c.118-307G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000464749.1:n.118-307G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS389169"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 140,
          "endIntronDirection": "+",
          "endIntronOffset": 395,
          "referenceAllele": "G",
          "start": 140,
          "startIntronDirection": "+",
          "startIntronOffset": 394
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "ENST00000586147.1:c.117+395G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466543.1:n.117+395G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS389201"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 488,
          "referenceAllele": "G",
          "start": 487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "ENST00000588774.1:n.488G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS391020"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 198,
          "endIntronDirection": "-",
          "endIntronOffset": 306,
          "referenceAllele": "G",
          "start": 198,
          "startIntronDirection": "-",
          "startIntronOffset": 307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "ENST00000591563.5:n.199-307G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS392953"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 114,
          "endIntronDirection": "-",
          "endIntronOffset": 306,
          "referenceAllele": "G",
          "start": 114,
          "startIntronDirection": "-",
          "startIntronOffset": 307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "ENST00000592386.5:c.115-307G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466826.1:n.115-307G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS393530"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 497,
          "endIntronDirection": "-",
          "endIntronOffset": 306,
          "referenceAllele": "G",
          "start": 497,
          "startIntronDirection": "-",
          "startIntronOffset": 307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "NM_199242.2:c.118-307G>A",
        "LRG_122t1:c.118-307G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_954712.1:n.118-307G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044881"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 130,
          "endIntronDirection": "-",
          "endIntronOffset": 306,
          "referenceAllele": "G",
          "start": 130,
          "startIntronDirection": "-",
          "startIntronOffset": 307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "XM_011524504.1:c.118-307G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522806.1:n.118-307G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091628"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 130,
          "endIntronDirection": "-",
          "endIntronOffset": 306,
          "referenceAllele": "G",
          "start": 130,
          "startIntronDirection": "-",
          "startIntronOffset": 307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "XM_011524505.1:c.118-307G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522807.1:n.118-307G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091629"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 130,
          "endIntronDirection": "-",
          "endIntronOffset": 306,
          "referenceAllele": "G",
          "start": 130,
          "startIntronDirection": "-",
          "startIntronOffset": 307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "XM_011524506.1:c.118-307G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522808.1:n.118-307G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091630"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 274,
          "referenceAllele": "G",
          "start": 273
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "XM_011524507.1:c.-799G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522809.1:n.-799G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091631"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 189,
          "endIntronDirection": "-",
          "endIntronOffset": 306,
          "referenceAllele": "G",
          "start": 189,
          "startIntronDirection": "-",
          "startIntronOffset": 307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "XM_011524504.2:c.118-307G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522806.1:n.118-307G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547490"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 221,
          "referenceAllele": "G",
          "start": 220
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "XM_011524507.2:c.-799G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522809.1:n.-799G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547491"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 184,
          "endIntronDirection": "-",
          "endIntronOffset": 306,
          "referenceAllele": "G",
          "start": 184,
          "startIntronDirection": "-",
          "startIntronOffset": 307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "NM_199242.3:c.118-307G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_954712.1:n.118-307G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729979",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000207549.9:c.118-307G>A"
          },
          "RefSeq": {
            "hgvs": "NM_199242.3:c.118-307G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000207549.3:n.118-307G>A"
          },
          "RefSeq": {
            "hgvs": "NP_954712.1:n.118-307G>A"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}