{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA502049719",
  "communityStandardTitle": [
    "NM_199242.3(UNC13D):c.2259C>A (p.Gly753=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1686643[alleleid]",
        "alleleId": 1686643,
        "preferredName": "NM_199242.3(UNC13D):c.2259C>A (p.Gly753=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1694208",
        "RCV": [
          "RCV002264554",
          "RCV003774810"
        ],
        "variationId": 1694208
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.73830445G>T?assembly=hg19",
        "id": "chr17:g.73830445G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.75834364G>T?assembly=hg38",
        "id": "chr17:g.75834364G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1354115593",
        "rs": 1354115593
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-75834364-G-T?dataset=gnomad_r4",
        "id": "17-75834364-G-T",
        "variant": "17:75834364 G / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 75834364,
          "referenceAllele": "G",
          "start": 75834363
        }
      ],
      "hgvs": [
        "NC_000017.11:g.75834364G>T",
        "CM000679.2:g.75834364G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 73830445,
          "referenceAllele": "G",
          "start": 73830444
        }
      ],
      "hgvs": [
        "NC_000017.10:g.73830445G>T",
        "CM000679.1:g.73830445G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 71342040,
          "referenceAllele": "G",
          "start": 71342039
        }
      ],
      "hgvs": [
        "NC_000017.9:g.71342040G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 15354,
          "referenceAllele": "C",
          "start": 15353
        }
      ],
      "hgvs": [
        "NG_007266.1:g.15354C>A",
        "LRG_122:g.15354C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000514"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1125,
          "referenceAllele": "C",
          "start": 1124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "ENST00000699510.1:c.1125C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514405.1:p.Gly375="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910398"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2326,
          "referenceAllele": "C",
          "start": 2325
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "ENST00000207549.9:c.2259C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000207549.3:p.Gly753="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740189",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000207549.9:c.2259C>A"
          },
          "RefSeq": {
            "hgvs": "NM_199242.3:c.2259C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000207549.3:p.Gly753="
          },
          "RefSeq": {
            "hgvs": "NP_954712.1:p.Gly753="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2639,
          "referenceAllele": "C",
          "start": 2638
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "ENST00000207549.8:c.2259C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000207549.3:p.Gly753="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247840"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2272,
          "referenceAllele": "C",
          "start": 2271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "ENST00000412096.6:c.2259C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388093.1:p.Gly753="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS282458"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2529,
          "referenceAllele": "C",
          "start": 2528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "ENST00000591563.5:n.2529C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS392953"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 620,
          "referenceAllele": "C",
          "start": 619
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "ENST00000591616.1:n.620C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS392995"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830431899",
      "coordinates": [
        {
          "allele": "A",
          "end": 2639,
          "referenceAllele": "C",
          "start": 2638
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "NM_199242.2:c.2259C>A",
        "LRG_122t1:c.2259C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_954712.1:p.Gly753="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044881"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2272,
          "referenceAllele": "C",
          "start": 2271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "XM_011524504.1:c.2259C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522806.1:p.Gly753="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091628"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2272,
          "referenceAllele": "C",
          "start": 2271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "XM_011524505.1:c.2259C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522807.1:p.Gly753="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091629"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2269,
          "referenceAllele": "C",
          "start": 2268
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "XM_011524506.1:c.2256C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522808.1:p.Gly752="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091630"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2722,
          "referenceAllele": "C",
          "start": 2721
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "XM_011524507.1:c.1650C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522809.1:p.Gly550="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091631"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1708,
          "referenceAllele": "C",
          "start": 1707
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "XM_011524508.1:c.1650C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522810.1:p.Gly550="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091632"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2331,
          "referenceAllele": "C",
          "start": 2330
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "XM_011524504.2:c.2259C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522806.1:p.Gly753="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547490"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2669,
          "referenceAllele": "C",
          "start": 2668
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "XM_011524507.2:c.1650C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522809.1:p.Gly550="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547491"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1744,
          "referenceAllele": "C",
          "start": 1743
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "XM_024450640.1:c.1650C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306408.1:p.Gly550="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584174"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830431899",
      "coordinates": [
        {
          "allele": "A",
          "end": 2326,
          "referenceAllele": "C",
          "start": 2325
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "NM_199242.3:c.2259C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_954712.1:p.Gly753="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729979",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000207549.9:c.2259C>A"
          },
          "RefSeq": {
            "hgvs": "NM_199242.3:c.2259C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000207549.3:p.Gly753="
          },
          "RefSeq": {
            "hgvs": "NP_954712.1:p.Gly753="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}