{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA401074002",
  "communityStandardTitle": [
    "NM_199242.3(UNC13D):c.3151G>C (p.Gly1051Arg)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.73824868C>G?assembly=hg19",
        "id": "chr17:g.73824868C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.75828787C>G?assembly=hg38",
        "id": "chr17:g.75828787C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1232542382",
        "rs": 1232542382
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-75828787-C-G?dataset=gnomad_r4",
        "id": "17-75828787-C-G",
        "variant": "17:75828787 C / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 75828787,
          "referenceAllele": "C",
          "start": 75828786
        }
      ],
      "hgvs": [
        "NC_000017.11:g.75828787C>G",
        "CM000679.2:g.75828787C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 73824868,
          "referenceAllele": "C",
          "start": 73824867
        }
      ],
      "hgvs": [
        "NC_000017.10:g.73824868C>G",
        "CM000679.1:g.73824868C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 71336463,
          "referenceAllele": "C",
          "start": 71336462
        }
      ],
      "hgvs": [
        "NC_000017.9:g.71336463C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 20931,
          "referenceAllele": "G",
          "start": 20930
        }
      ],
      "hgvs": [
        "NG_007266.1:g.20931G>C",
        "LRG_122:g.20931G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000514"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2017,
          "referenceAllele": "G",
          "start": 2016
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "ENST00000699510.1:c.2017G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514405.1:p.Gly673Arg",
        "hgvsWellDefined": "ENSP00000514405.1:p.Gly673Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910398"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3218,
          "referenceAllele": "G",
          "start": 3217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "ENST00000207549.9:c.3151G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000207549.3:p.Gly1051Arg",
        "hgvsWellDefined": "ENSP00000207549.3:p.Gly1051Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740189",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000207549.9:c.3151G>C"
          },
          "RefSeq": {
            "hgvs": "NM_199242.3:c.3151G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000207549.3:p.Gly1051Arg"
          },
          "RefSeq": {
            "hgvs": "NP_954712.1:p.Gly1051Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3531,
          "referenceAllele": "G",
          "start": 3530
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "ENST00000207549.8:c.3151G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000207549.3:p.Gly1051Arg",
        "hgvsWellDefined": "ENSP00000207549.3:p.Gly1051Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247840"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3164,
          "referenceAllele": "G",
          "start": 3163
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "ENST00000412096.6:c.3151G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388093.1:p.Gly1051Arg",
        "hgvsWellDefined": "ENSP00000388093.1:p.Gly1051Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS282458"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 273,
          "referenceAllele": "G",
          "start": 272
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "ENST00000586519.1:c.273G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466149.1:n.273G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS389443"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 317,
          "referenceAllele": "G",
          "start": 316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "ENST00000589670.5:c.317G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS391655"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499304243",
      "coordinates": [
        {
          "allele": "C",
          "end": 3531,
          "referenceAllele": "G",
          "start": 3530
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "NM_199242.2:c.3151G>C",
        "LRG_122t1:c.3151G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_954712.1:p.Gly1051Arg",
        "hgvsWellDefined": "NP_954712.1:p.Gly1051Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044881"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3233,
          "referenceAllele": "G",
          "start": 3232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "XM_011524504.1:c.3220G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522806.1:p.Gly1074Arg",
        "hgvsWellDefined": "XP_011522806.1:p.Gly1074Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091628"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3233,
          "referenceAllele": "G",
          "start": 3232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "XM_011524505.1:c.3220G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522807.1:p.Gly1074Arg",
        "hgvsWellDefined": "XP_011522807.1:p.Gly1074Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091629"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3230,
          "referenceAllele": "G",
          "start": 3229
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "XM_011524506.1:c.3217G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522808.1:p.Gly1073Arg",
        "hgvsWellDefined": "XP_011522808.1:p.Gly1073Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091630"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3683,
          "referenceAllele": "G",
          "start": 3682
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "XM_011524507.1:c.2611G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522809.1:p.Gly871Arg",
        "hgvsWellDefined": "XP_011522809.1:p.Gly871Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091631"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2669,
          "referenceAllele": "G",
          "start": 2668
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "XM_011524508.1:c.2611G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522810.1:p.Gly871Arg",
        "hgvsWellDefined": "XP_011522810.1:p.Gly871Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091632"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3292,
          "referenceAllele": "G",
          "start": 3291
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "XM_011524504.2:c.3220G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522806.1:p.Gly1074Arg",
        "hgvsWellDefined": "XP_011522806.1:p.Gly1074Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547490"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3630,
          "referenceAllele": "G",
          "start": 3629
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "XM_011524507.2:c.2611G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522809.1:p.Gly871Arg",
        "hgvsWellDefined": "XP_011522809.1:p.Gly871Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547491"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2705,
          "referenceAllele": "G",
          "start": 2704
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "XM_024450640.1:c.2611G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306408.1:p.Gly871Arg",
        "hgvsWellDefined": "XP_024306408.1:p.Gly871Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584174"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499304243",
      "coordinates": [
        {
          "allele": "C",
          "end": 3218,
          "referenceAllele": "G",
          "start": 3217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "NM_199242.3:c.3151G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_954712.1:p.Gly1051Arg",
        "hgvsWellDefined": "NP_954712.1:p.Gly1051Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729979",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000207549.9:c.3151G>C"
          },
          "RefSeq": {
            "hgvs": "NM_199242.3:c.3151G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000207549.3:p.Gly1051Arg"
          },
          "RefSeq": {
            "hgvs": "NP_954712.1:p.Gly1051Arg"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}