{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA4544504",
  "communityStandardTitle": [
    "NM_001080413.3(NOBOX):c.1796C>A (p.Pro599His)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=302073[alleleid]",
        "alleleId": 302073,
        "preferredName": "NM_001080413.3(NOBOX):c.1796C>A (p.Pro599His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/359135",
        "RCV": [
          "RCV000373245",
          "RCV001712543"
        ],
        "variationId": 359135
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/7-144094613-G-T",
        "id": "7-144094613-G-T",
        "variant": "7:144094613 G / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.144094613G>T?assembly=hg19",
        "id": "chr7:g.144094613G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.144397520G>T?assembly=hg38",
        "id": "chr7:g.144397520G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1208216",
        "rs": 1208216
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-144094613-G-T?dataset=gnomad_r2_1",
        "id": "7-144094613-G-T",
        "variant": "7:144094613 G / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-144397520-G-T?dataset=gnomad_r3",
        "id": "7-144397520-G-T",
        "variant": "7:144397520 G / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-144397520-G-T?dataset=gnomad_r4",
        "id": "7-144397520-G-T",
        "variant": "7:144397520 G / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "T",
          "end": 144397520,
          "referenceAllele": "G",
          "start": 144397519
        }
      ],
      "hgvs": [
        "NC_000007.14:g.144397520G>T",
        "CM000669.2:g.144397520G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "T",
          "end": 144094613,
          "referenceAllele": "G",
          "start": 144094612
        }
      ],
      "hgvs": [
        "NC_000007.13:g.144094613G>T",
        "CM000669.1:g.144094613G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "T",
          "end": 143725546,
          "referenceAllele": "G",
          "start": 143725545
        }
      ],
      "hgvs": [
        "NC_000007.12:g.143725546G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 17708,
          "referenceAllele": "C",
          "start": 17707
        }
      ],
      "hgvs": [
        "NG_028979.1:g.17708C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004189"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 893,
          "referenceAllele": "C",
          "start": 892
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022448",
      "geneNCBI_id": 135935,
      "geneSymbol": "NOBOX",
      "hgvs": [
        "ENST00000643164.1:c.893C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495343.1:p.Pro298His",
        "hgvsWellDefined": "ENSP00000495343.1:p.Pro298His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767129"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1445,
          "referenceAllele": "C",
          "start": 1444
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022448",
      "geneNCBI_id": 135935,
      "geneSymbol": "NOBOX",
      "hgvs": [
        "ENST00000645489.1:c.1445C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496732.1:p.Pro482His",
        "hgvsWellDefined": "ENSP00000496732.1:p.Pro482His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768381"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1796,
          "referenceAllele": "C",
          "start": 1795
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022448",
      "geneNCBI_id": 135935,
      "geneSymbol": "NOBOX",
      "hgvs": [
        "ENST00000467773.1:c.1796C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419457.1:p.Pro599His",
        "hgvsWellDefined": "ENSP00000419457.1:p.Pro599His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS310846",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000467773.1:c.1796C>A"
          },
          "RefSeq": {
            "hgvs": "NM_001080413.3:c.1796C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000419457.1:p.Pro599His"
          },
          "RefSeq": {
            "hgvs": "NP_001073882.3:p.Pro599His"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1700,
          "referenceAllele": "C",
          "start": 1699
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022448",
      "geneNCBI_id": 135935,
      "geneSymbol": "NOBOX",
      "hgvs": [
        "ENST00000483238.5:c.1700C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419565.1:p.Pro567His",
        "hgvsWellDefined": "ENSP00000419565.1:p.Pro567His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS322760"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645406588",
      "coordinates": [
        {
          "allele": "A",
          "end": 1796,
          "referenceAllele": "C",
          "start": 1795
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022448",
      "geneNCBI_id": 135935,
      "geneSymbol": "NOBOX",
      "hgvs": [
        "NM_001080413.3:c.1796C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073882.3:p.Pro599His",
        "hgvsWellDefined": "NP_001073882.3:p.Pro599His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010179",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000467773.1:c.1796C>A"
          },
          "RefSeq": {
            "hgvs": "NM_001080413.3:c.1796C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000419457.1:p.Pro599His"
          },
          "RefSeq": {
            "hgvs": "NP_001073882.3:p.Pro599His"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1453,
          "referenceAllele": "C",
          "start": 1452
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022448",
      "geneNCBI_id": 135935,
      "geneSymbol": "NOBOX",
      "hgvs": [
        "XM_011515791.1:c.1445C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514093.1:p.Pro482His",
        "hgvsWellDefined": "XP_011514093.1:p.Pro482His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083002"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1895,
          "referenceAllele": "C",
          "start": 1894
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022448",
      "geneNCBI_id": 135935,
      "geneSymbol": "NOBOX",
      "hgvs": [
        "XM_017011742.2:c.1700C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867231.1:p.Pro567His",
        "hgvsWellDefined": "XP_016867231.1:p.Pro567His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565515"
    }
  ],
  "type": "nucleotide"
}