{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA401099090",
  "communityStandardTitle": [
    "NM_199242.3(UNC13D):c.1389+1G>C"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.73832419C>G?assembly=hg19",
        "id": "chr17:g.73832419C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.75836338C>G?assembly=hg38",
        "id": "chr17:g.75836338C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/777759523",
        "rs": 777759523
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-75836338-C-G?dataset=gnomad_r4",
        "id": "17-75836338-C-G",
        "variant": "17:75836338 C / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 75836338,
          "referenceAllele": "C",
          "start": 75836337
        }
      ],
      "hgvs": [
        "NC_000017.11:g.75836338C>G",
        "CM000679.2:g.75836338C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 73832419,
          "referenceAllele": "C",
          "start": 73832418
        }
      ],
      "hgvs": [
        "NC_000017.10:g.73832419C>G",
        "CM000679.1:g.73832419C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 71344014,
          "referenceAllele": "C",
          "start": 71344013
        }
      ],
      "hgvs": [
        "NC_000017.9:g.71344014C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 13380,
          "referenceAllele": "G",
          "start": 13379
        }
      ],
      "hgvs": [
        "NG_007266.1:g.13380G>C",
        "LRG_122:g.13380G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000514"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 324,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 324,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "ENST00000699510.1:c.324+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514405.1:n.324+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910398"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 566,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 566,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "ENST00000699511.1:c.566+1G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910399"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1456,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1456,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "ENST00000207549.9:c.1389+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000207549.3:n.1389+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740189",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000207549.9:c.1389+1G>C"
          },
          "RefSeq": {
            "hgvs": "NM_199242.3:c.1389+1G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000207549.3:n.1389+1G>C"
          },
          "RefSeq": {
            "hgvs": "NP_954712.1:n.1389+1G>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1769,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1769,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "ENST00000207549.8:c.1389+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000207549.3:n.1389+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247840"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1402,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1402,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "ENST00000412096.6:c.1389+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388093.1:n.1389+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS282458"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 140,
          "endIntronDirection": "-",
          "endIntronOffset": 81,
          "referenceAllele": "G",
          "start": 140,
          "startIntronDirection": "-",
          "startIntronOffset": 82
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "ENST00000586147.1:c.118-82G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466543.1:n.118-82G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS389201"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 508,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 508,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "ENST00000587105.1:c.508+1G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS389846"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1659,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1659,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "ENST00000591563.5:n.1659+1G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS392953"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1769,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1769,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "NM_199242.2:c.1389+1G>C",
        "LRG_122t1:c.1389+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_954712.1:n.1389+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044881"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1402,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1402,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "XM_011524504.1:c.1389+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522806.1:n.1389+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091628"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1402,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1402,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "XM_011524505.1:c.1389+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522807.1:n.1389+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091629"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1399,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1399,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "XM_011524506.1:c.1386+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522808.1:n.1386+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091630"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1852,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1852,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "XM_011524507.1:c.780+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522809.1:n.780+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091631"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 838,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 838,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "XM_011524508.1:c.780+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522810.1:n.780+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091632"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1461,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1461,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "XM_011524504.2:c.1389+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522806.1:n.1389+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547490"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1799,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1799,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "XM_011524507.2:c.780+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522809.1:n.780+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547491"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 874,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 874,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "XM_024450640.1:c.780+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306408.1:n.780+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584174"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1456,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1456,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "NM_199242.3:c.1389+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_954712.1:n.1389+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729979",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000207549.9:c.1389+1G>C"
          },
          "RefSeq": {
            "hgvs": "NM_199242.3:c.1389+1G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000207549.3:n.1389+1G>C"
          },
          "RefSeq": {
            "hgvs": "NP_954712.1:n.1389+1G>C"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}