{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA6658116",
  "communityStandardTitle": [
    "NM_000785.4(CYP27B1):c.1474C>T (p.Arg492Trp)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=840184[alleleid]",
        "alleleId": 840184,
        "preferredName": "NM_000785.4(CYP27B1):c.1474C>T (p.Arg492Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/857514",
        "RCV": [
          "RCV001063199",
          "RCV002479372"
        ],
        "variationId": 857514
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/12-58156978-G-A",
        "id": "12-58156978-G-A",
        "variant": "12:58156978 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.58156978G>A?assembly=hg19",
        "id": "chr12:g.58156978G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.57763195G>A?assembly=hg38",
        "id": "chr12:g.57763195G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/749537609",
        "rs": 749537609
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-58156978-G-A?dataset=gnomad_r2_1",
        "id": "12-58156978-G-A",
        "variant": "12:58156978 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-57763195-G-A?dataset=gnomad_r3",
        "id": "12-57763195-G-A",
        "variant": "12:57763195 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-57763195-G-A?dataset=gnomad_r4",
        "id": "12-57763195-G-A",
        "variant": "12:57763195 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 57763195,
          "referenceAllele": "G",
          "start": 57763194
        }
      ],
      "hgvs": [
        "NC_000012.12:g.57763195G>A",
        "CM000674.2:g.57763195G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 58156978,
          "referenceAllele": "G",
          "start": 58156977
        }
      ],
      "hgvs": [
        "NC_000012.11:g.58156978G>A",
        "CM000674.1:g.58156978G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 56443245,
          "referenceAllele": "G",
          "start": 56443244
        }
      ],
      "hgvs": [
        "NC_000012.10:g.56443245G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8999,
          "referenceAllele": "C",
          "start": 8998
        }
      ],
      "hgvs": [
        "NG_007076.1:g.8999C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000456"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1592,
          "referenceAllele": "C",
          "start": 1591
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002606",
      "geneNCBI_id": 1594,
      "geneSymbol": "CYP27B1",
      "hgvs": [
        "ENST00000713544.1:c.1555C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518840.1:p.Arg519Trp",
        "hgvsWellDefined": "ENSP00000518840.1:p.Arg519Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914841"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1569,
          "referenceAllele": "C",
          "start": 1568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002606",
      "geneNCBI_id": 1594,
      "geneSymbol": "CYP27B1",
      "hgvs": [
        "ENST00000713545.1:c.*479C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518841.1:n.*479C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914842"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1511,
          "referenceAllele": "C",
          "start": 1510
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002606",
      "geneNCBI_id": 1594,
      "geneSymbol": "CYP27B1",
      "hgvs": [
        "ENST00000228606.9:c.1474C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000228606.4:p.Arg492Trp",
        "hgvsWellDefined": "ENSP00000228606.4:p.Arg492Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740753",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000228606.9:c.1474C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000785.4:c.1474C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000228606.4:p.Arg492Trp"
          },
          "RefSeq": {
            "hgvs": "NP_000776.1:p.Arg492Trp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1684,
          "referenceAllele": "C",
          "start": 1683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002606",
      "geneNCBI_id": 1594,
      "geneSymbol": "CYP27B1",
      "hgvs": [
        "ENST00000228606.8:c.1474C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000228606.4:p.Arg492Trp",
        "hgvsWellDefined": "ENSP00000228606.4:p.Arg492Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248633"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1613,
          "referenceAllele": "C",
          "start": 1612
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002606",
      "geneNCBI_id": 1594,
      "geneSymbol": "CYP27B1",
      "hgvs": [
        "ENST00000547344.5:n.1613C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS366222"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139680746",
      "coordinates": [
        {
          "allele": "T",
          "end": 1626,
          "referenceAllele": "C",
          "start": 1625
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002606",
      "geneNCBI_id": 1594,
      "geneSymbol": "CYP27B1",
      "hgvs": [
        "NM_000785.3:c.1474C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000776.1:p.Arg492Trp",
        "hgvsWellDefined": "NP_000776.1:p.Arg492Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006814"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139680746",
      "coordinates": [
        {
          "allele": "T",
          "end": 1511,
          "referenceAllele": "C",
          "start": 1510
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002606",
      "geneNCBI_id": 1594,
      "geneSymbol": "CYP27B1",
      "hgvs": [
        "NM_000785.4:c.1474C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000776.1:p.Arg492Trp",
        "hgvsWellDefined": "NP_000776.1:p.Arg492Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662579",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000228606.9:c.1474C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000785.4:c.1474C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000228606.4:p.Arg492Trp"
          },
          "RefSeq": {
            "hgvs": "NP_000776.1:p.Arg492Trp"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}