{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA6658200",
  "communityStandardTitle": [
    "NM_000785.4(CYP27B1):c.1165C>T (p.Arg389Cys)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1314481[alleleid]",
        "alleleId": 1314481,
        "preferredName": "NM_000785.4(CYP27B1):c.1165C>T (p.Arg389Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1324206",
        "RCV": [
          "RCV001868859"
        ],
        "variationId": 1324206
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/12-58157931-G-A",
        "id": "12-58157931-G-A",
        "variant": "12:58157931 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.58157931G>A?assembly=hg19",
        "id": "chr12:g.58157931G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.57764148G>A?assembly=hg38",
        "id": "chr12:g.57764148G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/118204010",
        "rs": 118204010
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-58157931-G-A?dataset=gnomad_r2_1",
        "id": "12-58157931-G-A",
        "variant": "12:58157931 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-57764148-G-A?dataset=gnomad_r3",
        "id": "12-57764148-G-A",
        "variant": "12:57764148 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-57764148-G-A?dataset=gnomad_r4",
        "id": "12-57764148-G-A",
        "variant": "12:57764148 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 57764148,
          "referenceAllele": "G",
          "start": 57764147
        }
      ],
      "hgvs": [
        "NC_000012.12:g.57764148G>A",
        "CM000674.2:g.57764148G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 58157931,
          "referenceAllele": "G",
          "start": 58157930
        }
      ],
      "hgvs": [
        "NC_000012.11:g.58157931G>A",
        "CM000674.1:g.58157931G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 56444198,
          "referenceAllele": "G",
          "start": 56444197
        }
      ],
      "hgvs": [
        "NC_000012.10:g.56444198G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8046,
          "referenceAllele": "C",
          "start": 8045
        }
      ],
      "hgvs": [
        "NG_007076.1:g.8046C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000456"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1283,
          "referenceAllele": "C",
          "start": 1282
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002606",
      "geneNCBI_id": 1594,
      "geneSymbol": "CYP27B1",
      "hgvs": [
        "ENST00000713544.1:c.1246C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518840.1:p.Arg416Cys",
        "hgvsWellDefined": "ENSP00000518840.1:p.Arg416Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914841"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1260,
          "referenceAllele": "C",
          "start": 1259
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002606",
      "geneNCBI_id": 1594,
      "geneSymbol": "CYP27B1",
      "hgvs": [
        "ENST00000713545.1:c.*170C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518841.1:n.*170C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914842"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1202,
          "referenceAllele": "C",
          "start": 1201
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002606",
      "geneNCBI_id": 1594,
      "geneSymbol": "CYP27B1",
      "hgvs": [
        "ENST00000228606.9:c.1165C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000228606.4:p.Arg389Cys",
        "hgvsWellDefined": "ENSP00000228606.4:p.Arg389Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740753",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000228606.9:c.1165C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000785.4:c.1165C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000228606.4:p.Arg389Cys"
          },
          "RefSeq": {
            "hgvs": "NP_000776.1:p.Arg389Cys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1375,
          "referenceAllele": "C",
          "start": 1374
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002606",
      "geneNCBI_id": 1594,
      "geneSymbol": "CYP27B1",
      "hgvs": [
        "ENST00000228606.8:c.1165C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000228606.4:p.Arg389Cys",
        "hgvsWellDefined": "ENSP00000228606.4:p.Arg389Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248633"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 965,
          "referenceAllele": "C",
          "start": 964
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002606",
      "geneNCBI_id": 1594,
      "geneSymbol": "CYP27B1",
      "hgvs": [
        "ENST00000546567.5:c.460C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000449472.1:p.Arg154Cys",
        "hgvsWellDefined": "ENSP00000449472.1:p.Arg154Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS365718"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1304,
          "referenceAllele": "C",
          "start": 1303
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002606",
      "geneNCBI_id": 1594,
      "geneSymbol": "CYP27B1",
      "hgvs": [
        "ENST00000547344.5:n.1304C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS366222"
    },
    {
      "@id": "http://reg.genome.network/allele/PA110703",
      "coordinates": [
        {
          "allele": "T",
          "end": 1317,
          "referenceAllele": "C",
          "start": 1316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002606",
      "geneNCBI_id": 1594,
      "geneSymbol": "CYP27B1",
      "hgvs": [
        "NM_000785.3:c.1165C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000776.1:p.Arg389Cys",
        "hgvsWellDefined": "NP_000776.1:p.Arg389Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006814"
    },
    {
      "@id": "http://reg.genome.network/allele/PA110703",
      "coordinates": [
        {
          "allele": "T",
          "end": 1202,
          "referenceAllele": "C",
          "start": 1201
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002606",
      "geneNCBI_id": 1594,
      "geneSymbol": "CYP27B1",
      "hgvs": [
        "NM_000785.4:c.1165C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000776.1:p.Arg389Cys",
        "hgvsWellDefined": "NP_000776.1:p.Arg389Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662579",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000228606.9:c.1165C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000785.4:c.1165C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000228606.4:p.Arg389Cys"
          },
          "RefSeq": {
            "hgvs": "NP_000776.1:p.Arg389Cys"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}