{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA401101801",
  "communityStandardTitle": [
    "NM_199242.3(UNC13D):c.1131C>A (p.Ser377Arg)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.73832924G>T?assembly=hg19",
        "id": "chr17:g.73832924G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.75836843G>T?assembly=hg38",
        "id": "chr17:g.75836843G>T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 75836843,
          "referenceAllele": "G",
          "start": 75836842
        }
      ],
      "hgvs": [
        "NC_000017.11:g.75836843G>T",
        "CM000679.2:g.75836843G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 73832924,
          "referenceAllele": "G",
          "start": 73832923
        }
      ],
      "hgvs": [
        "NC_000017.10:g.73832924G>T",
        "CM000679.1:g.73832924G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 71344519,
          "referenceAllele": "G",
          "start": 71344518
        }
      ],
      "hgvs": [
        "NC_000017.9:g.71344519G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 12875,
          "referenceAllele": "C",
          "start": 12874
        }
      ],
      "hgvs": [
        "NG_007266.1:g.12875C>A",
        "LRG_122:g.12875C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000514"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1134,
          "referenceAllele": "C",
          "start": 1133
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "ENST00000587504.6:c.*149C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514388.1:n.*149C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906071"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 66,
          "referenceAllele": "C",
          "start": 65
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "ENST00000699510.1:c.66C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514405.1:p.Ser22Arg",
        "hgvsWellDefined": "ENSP00000514405.1:p.Ser22Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910398"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 311,
          "referenceAllele": "C",
          "start": 310
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "ENST00000699511.1:c.311C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910399"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1198,
          "referenceAllele": "C",
          "start": 1197
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "ENST00000207549.9:c.1131C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000207549.3:p.Ser377Arg",
        "hgvsWellDefined": "ENSP00000207549.3:p.Ser377Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740189",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000207549.9:c.1131C>A"
          },
          "RefSeq": {
            "hgvs": "NM_199242.3:c.1131C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000207549.3:p.Ser377Arg"
          },
          "RefSeq": {
            "hgvs": "NP_954712.1:p.Ser377Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1511,
          "referenceAllele": "C",
          "start": 1510
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "ENST00000207549.8:c.1131C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000207549.3:p.Ser377Arg",
        "hgvsWellDefined": "ENSP00000207549.3:p.Ser377Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247840"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1144,
          "referenceAllele": "C",
          "start": 1143
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "ENST00000412096.6:c.1131C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388093.1:p.Ser377Arg",
        "hgvsWellDefined": "ENSP00000388093.1:p.Ser377Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS282458"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 140,
          "endIntronDirection": "-",
          "endIntronOffset": 586,
          "referenceAllele": "C",
          "start": 140,
          "startIntronDirection": "-",
          "startIntronOffset": 587
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "ENST00000586147.1:c.118-587C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466543.1:n.118-587C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS389201"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 353,
          "referenceAllele": "C",
          "start": 352
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "ENST00000587105.1:c.353C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS389846"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1401,
          "referenceAllele": "C",
          "start": 1400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "ENST00000591563.5:n.1401C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS392953"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916062212",
      "coordinates": [
        {
          "allele": "A",
          "end": 1511,
          "referenceAllele": "C",
          "start": 1510
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "NM_199242.2:c.1131C>A",
        "LRG_122t1:c.1131C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_954712.1:p.Ser377Arg",
        "hgvsWellDefined": "NP_954712.1:p.Ser377Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044881"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1144,
          "referenceAllele": "C",
          "start": 1143
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "XM_011524504.1:c.1131C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522806.1:p.Ser377Arg",
        "hgvsWellDefined": "XP_011522806.1:p.Ser377Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091628"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1144,
          "referenceAllele": "C",
          "start": 1143
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "XM_011524505.1:c.1131C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522807.1:p.Ser377Arg",
        "hgvsWellDefined": "XP_011522807.1:p.Ser377Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091629"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1144,
          "referenceAllele": "C",
          "start": 1143
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "XM_011524506.1:c.1131C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522808.1:p.Ser377Arg",
        "hgvsWellDefined": "XP_011522808.1:p.Ser377Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091630"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1594,
          "referenceAllele": "C",
          "start": 1593
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "XM_011524507.1:c.522C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522809.1:p.Ser174Arg",
        "hgvsWellDefined": "XP_011522809.1:p.Ser174Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091631"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 580,
          "referenceAllele": "C",
          "start": 579
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "XM_011524508.1:c.522C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522810.1:p.Ser174Arg",
        "hgvsWellDefined": "XP_011522810.1:p.Ser174Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091632"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1203,
          "referenceAllele": "C",
          "start": 1202
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "XM_011524504.2:c.1131C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522806.1:p.Ser377Arg",
        "hgvsWellDefined": "XP_011522806.1:p.Ser377Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547490"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1541,
          "referenceAllele": "C",
          "start": 1540
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "XM_011524507.2:c.522C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522809.1:p.Ser174Arg",
        "hgvsWellDefined": "XP_011522809.1:p.Ser174Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547491"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 616,
          "referenceAllele": "C",
          "start": 615
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "XM_024450640.1:c.522C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306408.1:p.Ser174Arg",
        "hgvsWellDefined": "XP_024306408.1:p.Ser174Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584174"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916062212",
      "coordinates": [
        {
          "allele": "A",
          "end": 1198,
          "referenceAllele": "C",
          "start": 1197
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "NM_199242.3:c.1131C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_954712.1:p.Ser377Arg",
        "hgvsWellDefined": "NP_954712.1:p.Ser377Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729979",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000207549.9:c.1131C>A"
          },
          "RefSeq": {
            "hgvs": "NM_199242.3:c.1131C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000207549.3:p.Ser377Arg"
          },
          "RefSeq": {
            "hgvs": "NP_954712.1:p.Ser377Arg"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}