{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10540487",
  "communityStandardTitle": [
    "NM_004224.3(GPR50):c.1816A>G (p.Ile606Val)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "active": false,
        "id": "COSM3759396"
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/X-150349871-A-G",
        "id": "X-150349871-A-G",
        "variant": "X:150349871 A / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.150349871A>G?assembly=hg19",
        "id": "chrX:g.150349871A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.151181399A>G?assembly=hg38",
        "id": "chrX:g.151181399A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/13440581",
        "rs": 13440581
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-150349871-A-G?dataset=gnomad_r2_1",
        "id": "X-150349871-A-G",
        "variant": "X:150349871 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-151181399-A-G?dataset=gnomad_r3",
        "id": "X-151181399-A-G",
        "variant": "X:151181399 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-151181399-A-G?dataset=gnomad_r4",
        "id": "X-151181399-A-G",
        "variant": "X:151181399 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 151181399,
          "referenceAllele": "A",
          "start": 151181398
        }
      ],
      "hgvs": [
        "NC_000023.11:g.151181399A>G",
        "CM000685.2:g.151181399A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 150349871,
          "referenceAllele": "A",
          "start": 150349870
        }
      ],
      "hgvs": [
        "NC_000023.10:g.150349871A>G",
        "CM000685.1:g.150349871A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 150100529,
          "referenceAllele": "A",
          "start": 150100528
        }
      ],
      "hgvs": [
        "NC_000023.9:g.150100529A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9816,
          "referenceAllele": "A",
          "start": 9815
        }
      ],
      "hgvs": [
        "NG_016405.1:g.9816A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003163"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9816,
          "referenceAllele": "A",
          "start": 9815
        }
      ],
      "hgvs": [
        "NG_016405.2:g.9816A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673677"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1954,
          "referenceAllele": "A",
          "start": 1953
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004506",
      "geneNCBI_id": 9248,
      "geneSymbol": "GPR50",
      "hgvs": [
        "ENST00000218316.4:c.1816A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000218316.3:p.Ile606Val",
        "hgvsWellDefined": "ENSP00000218316.3:p.Ile606Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740397",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000218316.4:c.1816A>G"
          },
          "RefSeq": {
            "hgvs": "NM_004224.3:c.1816A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000218316.3:p.Ile606Val"
          },
          "RefSeq": {
            "hgvs": "NP_004215.2:p.Ile606Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1885,
          "referenceAllele": "A",
          "start": 1884
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004506",
      "geneNCBI_id": 9248,
      "geneSymbol": "GPR50",
      "hgvs": [
        "ENST00000218316.3:c.1816A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000218316.3:p.Ile606Val",
        "hgvsWellDefined": "ENSP00000218316.3:p.Ile606Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248134"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1810,
          "referenceAllele": "A",
          "start": 1809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004506",
      "geneNCBI_id": 9248,
      "geneSymbol": "GPR50",
      "hgvs": [
        "ENST00000617907.1:c.1810A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000484496.1:p.Ile604Val",
        "hgvsWellDefined": "ENSP00000484496.1:p.Ile604Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403682"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063190365",
      "coordinates": [
        {
          "allele": "G",
          "end": 1954,
          "referenceAllele": "A",
          "start": 1953
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004506",
      "geneNCBI_id": 9248,
      "geneSymbol": "GPR50",
      "hgvs": [
        "NM_004224.3:c.1816A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004215.2:p.Ile606Val",
        "hgvsWellDefined": "NP_004215.2:p.Ile606Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029398",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000218316.4:c.1816A>G"
          },
          "RefSeq": {
            "hgvs": "NM_004224.3:c.1816A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000218316.3:p.Ile606Val"
          },
          "RefSeq": {
            "hgvs": "NP_004215.2:p.Ile606Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1158,
          "referenceAllele": "A",
          "start": 1157
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004506",
      "geneNCBI_id": 9248,
      "geneSymbol": "GPR50",
      "hgvs": [
        "XM_011531216.1:c.1075A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529518.1:p.Ile359Val",
        "hgvsWellDefined": "XP_011529518.1:p.Ile359Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098255"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1183,
          "referenceAllele": "A",
          "start": 1182
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004506",
      "geneNCBI_id": 9248,
      "geneSymbol": "GPR50",
      "hgvs": [
        "XM_011531216.2:c.1075A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529518.1:p.Ile359Val",
        "hgvsWellDefined": "XP_011529518.1:p.Ile359Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550279"
    }
  ],
  "type": "nucleotide"
}