{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA6658362",
  "communityStandardTitle": [
    "NM_000785.4(CYP27B1):c.657G>C (p.Glu219Asp)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1914596[alleleid]",
        "alleleId": 1914596,
        "preferredName": "NM_000785.4(CYP27B1):c.657G>C (p.Glu219Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2187188",
        "RCV": [
          "RCV002623462"
        ],
        "variationId": 2187188
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/12-58158927-C-G",
        "id": "12-58158927-C-G",
        "variant": "12:58158927 C / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.58158927C>G?assembly=hg19",
        "id": "chr12:g.58158927C>G"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.58158927_58158928delinsGT?assembly=hg19",
        "id": "chr12:g.58158927_58158928delinsGT"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.57765144C>G?assembly=hg38",
        "id": "chr12:g.57765144C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1329710441",
        "rs": 1329710441
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-58158927-C-G?dataset=gnomad_r2_1",
        "id": "12-58158927-C-G",
        "variant": "12:58158927 C / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-57765144-C-G?dataset=gnomad_r3",
        "id": "12-57765144-C-G",
        "variant": "12:57765144 C / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-57765144-C-G?dataset=gnomad_r4",
        "id": "12-57765144-C-G",
        "variant": "12:57765144 C / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "G",
          "end": 57765144,
          "referenceAllele": "C",
          "start": 57765143
        }
      ],
      "hgvs": [
        "NC_000012.12:g.57765144C>G",
        "CM000674.2:g.57765144C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "G",
          "end": 58158927,
          "referenceAllele": "C",
          "start": 58158926
        }
      ],
      "hgvs": [
        "NC_000012.11:g.58158927C>G",
        "CM000674.1:g.58158927C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "G",
          "end": 56445194,
          "referenceAllele": "C",
          "start": 56445193
        }
      ],
      "hgvs": [
        "NC_000012.10:g.56445194C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7050,
          "referenceAllele": "G",
          "start": 7049
        }
      ],
      "hgvs": [
        "NG_007076.1:g.7050G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000456"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 569,
          "referenceAllele": "G",
          "start": 568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002606",
      "geneNCBI_id": 1594,
      "geneSymbol": "CYP27B1",
      "hgvs": [
        "ENST00000546609.2:n.569G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS914254"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 775,
          "referenceAllele": "G",
          "start": 774
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002606",
      "geneNCBI_id": 1594,
      "geneSymbol": "CYP27B1",
      "hgvs": [
        "ENST00000713544.1:c.738G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518840.1:p.Glu246Asp",
        "hgvsWellDefined": "ENSP00000518840.1:p.Glu246Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914841"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 752,
          "referenceAllele": "G",
          "start": 751
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002606",
      "geneNCBI_id": 1594,
      "geneSymbol": "CYP27B1",
      "hgvs": [
        "ENST00000713545.1:c.715G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518841.1:p.Asp239His",
        "hgvsWellDefined": "ENSP00000518841.1:p.Asp239His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914842"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 694,
          "referenceAllele": "G",
          "start": 693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002606",
      "geneNCBI_id": 1594,
      "geneSymbol": "CYP27B1",
      "hgvs": [
        "ENST00000228606.9:c.657G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000228606.4:p.Glu219Asp",
        "hgvsWellDefined": "ENSP00000228606.4:p.Glu219Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740753",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000228606.9:c.657G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000785.4:c.657G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000228606.4:p.Glu219Asp"
          },
          "RefSeq": {
            "hgvs": "NP_000776.1:p.Glu219Asp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 867,
          "referenceAllele": "G",
          "start": 866
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002606",
      "geneNCBI_id": 1594,
      "geneSymbol": "CYP27B1",
      "hgvs": [
        "ENST00000228606.8:c.657G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000228606.4:p.Glu219Asp",
        "hgvsWellDefined": "ENSP00000228606.4:p.Glu219Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248633"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 457,
          "referenceAllele": "G",
          "start": 456
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002606",
      "geneNCBI_id": 1594,
      "geneSymbol": "CYP27B1",
      "hgvs": [
        "ENST00000546567.5:c.-49G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000449472.1:n.-49G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS365718"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 569,
          "referenceAllele": "G",
          "start": 568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002606",
      "geneNCBI_id": 1594,
      "geneSymbol": "CYP27B1",
      "hgvs": [
        "ENST00000546609.1:c.569G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS365746"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 796,
          "referenceAllele": "G",
          "start": 795
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002606",
      "geneNCBI_id": 1594,
      "geneSymbol": "CYP27B1",
      "hgvs": [
        "ENST00000547344.5:n.796G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS366222"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 457,
          "referenceAllele": "G",
          "start": 456
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002606",
      "geneNCBI_id": 1594,
      "geneSymbol": "CYP27B1",
      "hgvs": [
        "ENST00000547451.1:n.457G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS366286"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580117508",
      "coordinates": [
        {
          "allele": "C",
          "end": 809,
          "referenceAllele": "G",
          "start": 808
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002606",
      "geneNCBI_id": 1594,
      "geneSymbol": "CYP27B1",
      "hgvs": [
        "NM_000785.3:c.657G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000776.1:p.Glu219Asp",
        "hgvsWellDefined": "NP_000776.1:p.Glu219Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006814"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580117508",
      "coordinates": [
        {
          "allele": "C",
          "end": 694,
          "referenceAllele": "G",
          "start": 693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002606",
      "geneNCBI_id": 1594,
      "geneSymbol": "CYP27B1",
      "hgvs": [
        "NM_000785.4:c.657G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000776.1:p.Glu219Asp",
        "hgvsWellDefined": "NP_000776.1:p.Glu219Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662579",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000228606.9:c.657G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000785.4:c.657G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000228606.4:p.Glu219Asp"
          },
          "RefSeq": {
            "hgvs": "NP_000776.1:p.Glu219Asp"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}