{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA5203481",
  "communityStandardTitle": [
    "NM_000607.4(ORM1):c.113G>A (p.Arg38Gln)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3847447",
        "active": true,
        "id": "COSM3847447"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3847448",
        "active": true,
        "id": "COSM3847448"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=700751[alleleid]",
        "alleleId": 700751,
        "preferredName": "NM_000607.4(ORM1):c.113G>A (p.Arg38Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/768319",
        "RCV": [
          "RCV000947197"
        ],
        "variationId": 768319
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/9-117085526-G-A",
        "id": "9-117085526-G-A",
        "variant": "9:117085526 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.117085526G>A?assembly=hg19",
        "id": "chr9:g.117085526G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.114323246G>A?assembly=hg38",
        "id": "chr9:g.114323246G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/17650",
        "rs": 17650
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-117085526-G-A?dataset=gnomad_r2_1",
        "id": "9-117085526-G-A",
        "variant": "9:117085526 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-114323246-G-A?dataset=gnomad_r3",
        "id": "9-114323246-G-A",
        "variant": "9:114323246 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-114323246-G-A?dataset=gnomad_r4",
        "id": "9-114323246-G-A",
        "variant": "9:114323246 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "A",
          "end": 114323246,
          "referenceAllele": "G",
          "start": 114323245
        }
      ],
      "hgvs": [
        "NC_000009.12:g.114323246G>A",
        "CM000671.2:g.114323246G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "A",
          "end": 117085526,
          "referenceAllele": "G",
          "start": 117085525
        }
      ],
      "hgvs": [
        "NC_000009.11:g.117085526G>A",
        "CM000671.1:g.117085526G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "A",
          "end": 116125347,
          "referenceAllele": "G",
          "start": 116125346
        }
      ],
      "hgvs": [
        "NC_000009.10:g.116125347G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5224,
          "referenceAllele": "G",
          "start": 5223
        }
      ],
      "hgvs": [
        "NG_012108.1:g.5224G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002192"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 149,
          "referenceAllele": "G",
          "start": 148
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008498",
      "geneNCBI_id": 5004,
      "geneSymbol": "ORM1",
      "hgvs": [
        "ENST00000259396.9:c.113G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000259396.8:p.Arg38Gln",
        "hgvsWellDefined": "ENSP00000259396.8:p.Arg38Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS823613",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000259396.9:c.113G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000607.4:c.113G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000259396.8:p.Arg38Gln"
          },
          "RefSeq": {
            "hgvs": "NP_000598.2:p.Arg38Gln"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 191,
          "referenceAllele": "G",
          "start": 190
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008498",
      "geneNCBI_id": 5004,
      "geneSymbol": "ORM1",
      "hgvs": [
        "ENST00000259396.8:c.113G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000259396.8:p.Arg38Gln",
        "hgvsWellDefined": "ENSP00000259396.8:p.Arg38Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250487"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915962652",
      "coordinates": [
        {
          "allele": "A",
          "end": 224,
          "referenceAllele": "G",
          "start": 223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008498",
      "geneNCBI_id": 5004,
      "geneSymbol": "ORM1",
      "hgvs": [
        "NM_000607.2:c.113G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000598.2:p.Arg38Gln",
        "hgvsWellDefined": "NP_000598.2:p.Arg38Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006659"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915962652",
      "coordinates": [
        {
          "allele": "A",
          "end": 619,
          "referenceAllele": "G",
          "start": 618
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008498",
      "geneNCBI_id": 5004,
      "geneSymbol": "ORM1",
      "hgvs": [
        "NM_000607.3:c.113G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000598.2:p.Arg38Gln",
        "hgvsWellDefined": "NP_000598.2:p.Arg38Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674907"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915962652",
      "coordinates": [
        {
          "allele": "A",
          "end": 149,
          "referenceAllele": "G",
          "start": 148
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008498",
      "geneNCBI_id": 5004,
      "geneSymbol": "ORM1",
      "hgvs": [
        "NM_000607.4:c.113G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000598.2:p.Arg38Gln",
        "hgvsWellDefined": "NP_000598.2:p.Arg38Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710854",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000259396.9:c.113G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000607.4:c.113G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000259396.8:p.Arg38Gln"
          },
          "RefSeq": {
            "hgvs": "NP_000598.2:p.Arg38Gln"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}