{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2275708774",
  "communityStandardTitle": [
    "NM_199242.3(UNC13D):c.919C= (p.Gln307=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/747169857",
        "rs": 747169857
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 75840050,
          "referenceAllele": "G",
          "start": 75840049
        }
      ],
      "hgvs": [
        "NC_000017.11:g.75840050G=",
        "CM000679.2:g.75840050G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 73836131,
          "referenceAllele": "G",
          "start": 73836130
        }
      ],
      "hgvs": [
        "NC_000017.10:g.73836131G=",
        "CM000679.1:g.73836131G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 71347726,
          "referenceAllele": "G",
          "start": 71347725
        }
      ],
      "hgvs": [
        "NC_000017.9:g.71347726G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 9668,
          "referenceAllele": "C",
          "start": 9667
        }
      ],
      "hgvs": [
        "NG_007266.1:g.9668C=",
        "LRG_122:g.9668C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000514"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 922,
          "referenceAllele": "C",
          "start": 921
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "ENST00000587504.6:c.900C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514388.1:p.Ser300="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906071"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 901,
          "referenceAllele": "C",
          "start": 900
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "ENST00000592386.6:c.901C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466826.2:p.Gln301="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906114"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 99,
          "referenceAllele": "C",
          "start": 98
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "ENST00000699511.1:c.99C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910399"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 986,
          "referenceAllele": "C",
          "start": 985
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "ENST00000207549.9:c.919C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000207549.3:p.Gln307="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740189",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000207549.9:c.919C="
          },
          "RefSeq": {
            "hgvs": "NM_199242.3:c.919C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000207549.3:p.Gln307="
          },
          "RefSeq": {
            "hgvs": "NP_954712.1:p.Gln307="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1299,
          "referenceAllele": "C",
          "start": 1298
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "ENST00000207549.8:c.919C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000207549.3:p.Gln307="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247840"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 932,
          "referenceAllele": "C",
          "start": 931
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "ENST00000412096.6:c.919C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388093.1:p.Gln307="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS282458"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 140,
          "endIntronDirection": "-",
          "endIntronOffset": 3793,
          "referenceAllele": "C",
          "start": 140,
          "startIntronDirection": "-",
          "startIntronOffset": 3794
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "ENST00000586147.1:c.118-3794C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466543.1:n.118-3794C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS389201"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 141,
          "referenceAllele": "C",
          "start": 140
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "ENST00000587105.1:c.141C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS389846"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 922,
          "referenceAllele": "C",
          "start": 921
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "ENST00000587504.5:n.922C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS390131"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1114,
          "referenceAllele": "C",
          "start": 1113
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "ENST00000591563.5:n.1114C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS392953"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 898,
          "referenceAllele": "C",
          "start": 897
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "ENST00000592386.5:c.898C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466826.1:p.Gln300="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS393530"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3084159229",
      "coordinates": [
        {
          "allele": "C",
          "end": 1299,
          "referenceAllele": "C",
          "start": 1298
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "NM_199242.2:c.919C=",
        "LRG_122t1:c.919C="
      ],
      "proteinEffect": {
        "hgvs": "NP_954712.1:p.Gln307="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044881"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 932,
          "referenceAllele": "C",
          "start": 931
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "XM_011524504.1:c.919C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011522806.1:p.Gln307="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091628"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 932,
          "referenceAllele": "C",
          "start": 931
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "XM_011524505.1:c.919C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011522807.1:p.Gln307="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091629"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 932,
          "referenceAllele": "C",
          "start": 931
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "XM_011524506.1:c.919C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011522808.1:p.Gln307="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091630"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1382,
          "referenceAllele": "C",
          "start": 1381
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "XM_011524507.1:c.310C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011522809.1:p.Gln104="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091631"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 368,
          "referenceAllele": "C",
          "start": 367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "XM_011524508.1:c.310C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011522810.1:p.Gln104="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091632"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 991,
          "referenceAllele": "C",
          "start": 990
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "XM_011524504.2:c.919C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011522806.1:p.Gln307="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547490"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1329,
          "referenceAllele": "C",
          "start": 1328
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "XM_011524507.2:c.310C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011522809.1:p.Gln104="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547491"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 404,
          "referenceAllele": "C",
          "start": 403
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "XM_024450640.1:c.310C="
      ],
      "proteinEffect": {
        "hgvs": "XP_024306408.1:p.Gln104="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584174"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3084159229",
      "coordinates": [
        {
          "allele": "C",
          "end": 986,
          "referenceAllele": "C",
          "start": 985
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "NM_199242.3:c.919C="
      ],
      "proteinEffect": {
        "hgvs": "NP_954712.1:p.Gln307="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729979",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000207549.9:c.919C="
          },
          "RefSeq": {
            "hgvs": "NM_199242.3:c.919C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000207549.3:p.Gln307="
          },
          "RefSeq": {
            "hgvs": "NP_954712.1:p.Gln307="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}