{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA8772294",
  "communityStandardTitle": [
    "NM_199242.3(UNC13D):c.3049G>A (p.Glu1017Lys)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1701716[alleleid]",
        "alleleId": 1701716,
        "preferredName": "NM_199242.3(UNC13D):c.3049G>A (p.Glu1017Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1705632",
        "RCV": [
          "RCV002283946"
        ],
        "variationId": 1705632
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/17-73824970-C-T",
        "id": "17-73824970-C-T",
        "variant": "17:73824970 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.73824970C>T?assembly=hg19",
        "id": "chr17:g.73824970C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.75828889C>T?assembly=hg38",
        "id": "chr17:g.75828889C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/776737156",
        "rs": 776737156
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-73824970-C-T?dataset=gnomad_r2_1",
        "id": "17-73824970-C-T",
        "variant": "17:73824970 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-75828889-C-T?dataset=gnomad_r4",
        "id": "17-75828889-C-T",
        "variant": "17:75828889 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 75828889,
          "referenceAllele": "C",
          "start": 75828888
        }
      ],
      "hgvs": [
        "NC_000017.11:g.75828889C>T",
        "CM000679.2:g.75828889C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 73824970,
          "referenceAllele": "C",
          "start": 73824969
        }
      ],
      "hgvs": [
        "NC_000017.10:g.73824970C>T",
        "CM000679.1:g.73824970C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 71336565,
          "referenceAllele": "C",
          "start": 71336564
        }
      ],
      "hgvs": [
        "NC_000017.9:g.71336565C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 20829,
          "referenceAllele": "G",
          "start": 20828
        }
      ],
      "hgvs": [
        "NG_007266.1:g.20829G>A",
        "LRG_122:g.20829G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000514"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1915,
          "referenceAllele": "G",
          "start": 1914
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "ENST00000699510.1:c.1915G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514405.1:p.Glu639Lys",
        "hgvsWellDefined": "ENSP00000514405.1:p.Glu639Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910398"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3116,
          "referenceAllele": "G",
          "start": 3115
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "ENST00000207549.9:c.3049G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000207549.3:p.Glu1017Lys",
        "hgvsWellDefined": "ENSP00000207549.3:p.Glu1017Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740189",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000207549.9:c.3049G>A"
          },
          "RefSeq": {
            "hgvs": "NM_199242.3:c.3049G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000207549.3:p.Glu1017Lys"
          },
          "RefSeq": {
            "hgvs": "NP_954712.1:p.Glu1017Lys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3429,
          "referenceAllele": "G",
          "start": 3428
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "ENST00000207549.8:c.3049G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000207549.3:p.Glu1017Lys",
        "hgvsWellDefined": "ENSP00000207549.3:p.Glu1017Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247840"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3062,
          "referenceAllele": "G",
          "start": 3061
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "ENST00000412096.6:c.3049G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388093.1:p.Glu1017Lys",
        "hgvsWellDefined": "ENSP00000388093.1:p.Glu1017Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS282458"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 171,
          "referenceAllele": "G",
          "start": 170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "ENST00000586519.1:c.171G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466149.1:p.Ala57="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS389443"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 215,
          "referenceAllele": "G",
          "start": 214
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "ENST00000589670.5:c.215G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS391655"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580566457",
      "coordinates": [
        {
          "allele": "A",
          "end": 3429,
          "referenceAllele": "G",
          "start": 3428
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "NM_199242.2:c.3049G>A",
        "LRG_122t1:c.3049G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_954712.1:p.Glu1017Lys",
        "hgvsWellDefined": "NP_954712.1:p.Glu1017Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044881"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3131,
          "referenceAllele": "G",
          "start": 3130
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "XM_011524504.1:c.3118G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522806.1:p.Glu1040Lys",
        "hgvsWellDefined": "XP_011522806.1:p.Glu1040Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091628"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3131,
          "referenceAllele": "G",
          "start": 3130
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "XM_011524505.1:c.3118G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522807.1:p.Glu1040Lys",
        "hgvsWellDefined": "XP_011522807.1:p.Glu1040Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091629"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3128,
          "referenceAllele": "G",
          "start": 3127
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "XM_011524506.1:c.3115G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522808.1:p.Glu1039Lys",
        "hgvsWellDefined": "XP_011522808.1:p.Glu1039Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091630"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3581,
          "referenceAllele": "G",
          "start": 3580
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "XM_011524507.1:c.2509G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522809.1:p.Glu837Lys",
        "hgvsWellDefined": "XP_011522809.1:p.Glu837Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091631"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2567,
          "referenceAllele": "G",
          "start": 2566
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "XM_011524508.1:c.2509G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522810.1:p.Glu837Lys",
        "hgvsWellDefined": "XP_011522810.1:p.Glu837Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091632"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3190,
          "referenceAllele": "G",
          "start": 3189
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "XM_011524504.2:c.3118G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522806.1:p.Glu1040Lys",
        "hgvsWellDefined": "XP_011522806.1:p.Glu1040Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547490"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3528,
          "referenceAllele": "G",
          "start": 3527
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "XM_011524507.2:c.2509G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522809.1:p.Glu837Lys",
        "hgvsWellDefined": "XP_011522809.1:p.Glu837Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547491"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2603,
          "referenceAllele": "G",
          "start": 2602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "XM_024450640.1:c.2509G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306408.1:p.Glu837Lys",
        "hgvsWellDefined": "XP_024306408.1:p.Glu837Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584174"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580566457",
      "coordinates": [
        {
          "allele": "A",
          "end": 3116,
          "referenceAllele": "G",
          "start": 3115
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "NM_199242.3:c.3049G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_954712.1:p.Glu1017Lys",
        "hgvsWellDefined": "NP_954712.1:p.Glu1017Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729979",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000207549.9:c.3049G>A"
          },
          "RefSeq": {
            "hgvs": "NM_199242.3:c.3049G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000207549.3:p.Glu1017Lys"
          },
          "RefSeq": {
            "hgvs": "NP_954712.1:p.Glu1017Lys"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}