{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA6658161",
  "communityStandardTitle": [
    "NM_000785.4(CYP27B1):c.1286G>A (p.Arg429His)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=870240[alleleid]",
        "alleleId": 870240,
        "preferredName": "NM_000785.4(CYP27B1):c.1286G>A (p.Arg429His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/880897",
        "RCV": [
          "RCV001109504",
          "RCV003313988"
        ],
        "variationId": 880897
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/12-58157521-C-T",
        "id": "12-58157521-C-T",
        "variant": "12:58157521 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.58157521C>T?assembly=hg19",
        "id": "chr12:g.58157521C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.57763738C>T?assembly=hg38",
        "id": "chr12:g.57763738C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/568165874",
        "rs": 568165874
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-58157521-C-T?dataset=gnomad_r2_1",
        "id": "12-58157521-C-T",
        "variant": "12:58157521 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-57763738-C-T?dataset=gnomad_r3",
        "id": "12-57763738-C-T",
        "variant": "12:57763738 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-57763738-C-T?dataset=gnomad_r4",
        "id": "12-57763738-C-T",
        "variant": "12:57763738 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 57763738,
          "referenceAllele": "C",
          "start": 57763737
        }
      ],
      "hgvs": [
        "NC_000012.12:g.57763738C>T",
        "CM000674.2:g.57763738C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 58157521,
          "referenceAllele": "C",
          "start": 58157520
        }
      ],
      "hgvs": [
        "NC_000012.11:g.58157521C>T",
        "CM000674.1:g.58157521C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 56443788,
          "referenceAllele": "C",
          "start": 56443787
        }
      ],
      "hgvs": [
        "NC_000012.10:g.56443788C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8456,
          "referenceAllele": "G",
          "start": 8455
        }
      ],
      "hgvs": [
        "NG_007076.1:g.8456G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000456"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1404,
          "referenceAllele": "G",
          "start": 1403
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002606",
      "geneNCBI_id": 1594,
      "geneSymbol": "CYP27B1",
      "hgvs": [
        "ENST00000713544.1:c.1367G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518840.1:p.Arg456His",
        "hgvsWellDefined": "ENSP00000518840.1:p.Arg456His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914841"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1381,
          "referenceAllele": "G",
          "start": 1380
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002606",
      "geneNCBI_id": 1594,
      "geneSymbol": "CYP27B1",
      "hgvs": [
        "ENST00000713545.1:c.*291G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518841.1:n.*291G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914842"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1323,
          "referenceAllele": "G",
          "start": 1322
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002606",
      "geneNCBI_id": 1594,
      "geneSymbol": "CYP27B1",
      "hgvs": [
        "ENST00000228606.9:c.1286G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000228606.4:p.Arg429His",
        "hgvsWellDefined": "ENSP00000228606.4:p.Arg429His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740753",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000228606.9:c.1286G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000785.4:c.1286G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000228606.4:p.Arg429His"
          },
          "RefSeq": {
            "hgvs": "NP_000776.1:p.Arg429His"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1496,
          "referenceAllele": "G",
          "start": 1495
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002606",
      "geneNCBI_id": 1594,
      "geneSymbol": "CYP27B1",
      "hgvs": [
        "ENST00000228606.8:c.1286G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000228606.4:p.Arg429His",
        "hgvsWellDefined": "ENSP00000228606.4:p.Arg429His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248633"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1425,
          "referenceAllele": "G",
          "start": 1424
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002606",
      "geneNCBI_id": 1594,
      "geneSymbol": "CYP27B1",
      "hgvs": [
        "ENST00000547344.5:n.1425G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS366222"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139680737",
      "coordinates": [
        {
          "allele": "A",
          "end": 1438,
          "referenceAllele": "G",
          "start": 1437
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002606",
      "geneNCBI_id": 1594,
      "geneSymbol": "CYP27B1",
      "hgvs": [
        "NM_000785.3:c.1286G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000776.1:p.Arg429His",
        "hgvsWellDefined": "NP_000776.1:p.Arg429His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006814"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139680737",
      "coordinates": [
        {
          "allele": "A",
          "end": 1323,
          "referenceAllele": "G",
          "start": 1322
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002606",
      "geneNCBI_id": 1594,
      "geneSymbol": "CYP27B1",
      "hgvs": [
        "NM_000785.4:c.1286G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000776.1:p.Arg429His",
        "hgvsWellDefined": "NP_000776.1:p.Arg429His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662579",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000228606.9:c.1286G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000785.4:c.1286G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000228606.4:p.Arg429His"
          },
          "RefSeq": {
            "hgvs": "NP_000776.1:p.Arg429His"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}