{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA212779",
  "communityStandardTitle": [
    "NM_000785.4(CYP27B1):c.589+1G>A"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=16706[alleleid]",
        "alleleId": 16706,
        "preferredName": "NM_000785.4(CYP27B1):c.589+1G>A"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1667",
        "RCV": [
          "RCV000001734"
        ],
        "variationId": 1667
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/12-58159079-C-T",
        "id": "12-58159079-C-T",
        "variant": "12:58159079 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.58159079C>T?assembly=hg19",
        "id": "chr12:g.58159079C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.57765296C>T?assembly=hg38",
        "id": "chr12:g.57765296C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/761780097",
        "rs": 761780097
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-58159079-C-T?dataset=gnomad_r2_1",
        "id": "12-58159079-C-T",
        "variant": "12:58159079 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-57765296-C-T?dataset=gnomad_r3",
        "id": "12-57765296-C-T",
        "variant": "12:57765296 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-57765296-C-T?dataset=gnomad_r4",
        "id": "12-57765296-C-T",
        "variant": "12:57765296 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 57765296,
          "referenceAllele": "C",
          "start": 57765295
        }
      ],
      "hgvs": [
        "NC_000012.12:g.57765296C>T",
        "CM000674.2:g.57765296C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 58159079,
          "referenceAllele": "C",
          "start": 58159078
        }
      ],
      "hgvs": [
        "NC_000012.11:g.58159079C>T",
        "CM000674.1:g.58159079C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 56445346,
          "referenceAllele": "C",
          "start": 56445345
        }
      ],
      "hgvs": [
        "NC_000012.10:g.56445346C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6898,
          "referenceAllele": "G",
          "start": 6897
        }
      ],
      "hgvs": [
        "NG_007076.1:g.6898G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000456"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 501,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 501,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002606",
      "geneNCBI_id": 1594,
      "geneSymbol": "CYP27B1",
      "hgvs": [
        "ENST00000546609.2:n.501+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS914254"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 707,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 707,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002606",
      "geneNCBI_id": 1594,
      "geneSymbol": "CYP27B1",
      "hgvs": [
        "ENST00000713544.1:c.670+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518840.1:n.670+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914841"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 684,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 684,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002606",
      "geneNCBI_id": 1594,
      "geneSymbol": "CYP27B1",
      "hgvs": [
        "ENST00000713545.1:c.647+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518841.1:n.647+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914842"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 626,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 626,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002606",
      "geneNCBI_id": 1594,
      "geneSymbol": "CYP27B1",
      "hgvs": [
        "ENST00000228606.9:c.589+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000228606.4:n.589+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740753",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000228606.9:c.589+1G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000785.4:c.589+1G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000228606.4:n.589+1G>A"
          },
          "RefSeq": {
            "hgvs": "NP_000776.1:n.589+1G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 799,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 799,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002606",
      "geneNCBI_id": 1594,
      "geneSymbol": "CYP27B1",
      "hgvs": [
        "ENST00000228606.8:c.589+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000228606.4:n.589+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248633"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 389,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 389,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002606",
      "geneNCBI_id": 1594,
      "geneSymbol": "CYP27B1",
      "hgvs": [
        "ENST00000546567.5:c.-117+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000449472.1:n.-117+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS365718"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 501,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 501,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002606",
      "geneNCBI_id": 1594,
      "geneSymbol": "CYP27B1",
      "hgvs": [
        "ENST00000546609.1:c.501+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS365746"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 644,
          "referenceAllele": "G",
          "start": 643
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002606",
      "geneNCBI_id": 1594,
      "geneSymbol": "CYP27B1",
      "hgvs": [
        "ENST00000547344.5:n.644G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS366222"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 389,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 389,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002606",
      "geneNCBI_id": 1594,
      "geneSymbol": "CYP27B1",
      "hgvs": [
        "ENST00000547451.1:n.389+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS366286"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 741,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 741,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002606",
      "geneNCBI_id": 1594,
      "geneSymbol": "CYP27B1",
      "hgvs": [
        "NM_000785.3:c.589+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000776.1:n.589+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006814"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 626,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 626,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002606",
      "geneNCBI_id": 1594,
      "geneSymbol": "CYP27B1",
      "hgvs": [
        "NM_000785.4:c.589+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000776.1:n.589+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662579",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000228606.9:c.589+1G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000785.4:c.589+1G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000228606.4:n.589+1G>A"
          },
          "RefSeq": {
            "hgvs": "NP_000776.1:n.589+1G>A"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}