{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2038988083",
  "communityStandardTitle": [
    "NM_000785.4(CYP27B1):c.962C= (p.Thr321=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/118204007",
        "rs": 118204007
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "G",
          "end": 57764755,
          "referenceAllele": "G",
          "start": 57764754
        }
      ],
      "hgvs": [
        "NC_000012.12:g.57764755G=",
        "CM000674.2:g.57764755G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "G",
          "end": 58158538,
          "referenceAllele": "G",
          "start": 58158537
        }
      ],
      "hgvs": [
        "NC_000012.11:g.58158538G=",
        "CM000674.1:g.58158538G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "G",
          "end": 56444805,
          "referenceAllele": "G",
          "start": 56444804
        }
      ],
      "hgvs": [
        "NC_000012.10:g.56444805G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7439,
          "referenceAllele": "C",
          "start": 7438
        }
      ],
      "hgvs": [
        "NG_007076.1:g.7439C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000456"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1080,
          "referenceAllele": "C",
          "start": 1079
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002606",
      "geneNCBI_id": 1594,
      "geneSymbol": "CYP27B1",
      "hgvs": [
        "ENST00000713544.1:c.1043C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518840.1:p.Thr348="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914841"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1057,
          "referenceAllele": "C",
          "start": 1056
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002606",
      "geneNCBI_id": 1594,
      "geneSymbol": "CYP27B1",
      "hgvs": [
        "ENST00000713545.1:c.1020C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518841.1:p.His340="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914842"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 999,
          "referenceAllele": "C",
          "start": 998
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002606",
      "geneNCBI_id": 1594,
      "geneSymbol": "CYP27B1",
      "hgvs": [
        "ENST00000228606.9:c.962C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000228606.4:p.Thr321="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740753",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000228606.9:c.962C="
          },
          "RefSeq": {
            "hgvs": "NM_000785.4:c.962C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000228606.4:p.Thr321="
          },
          "RefSeq": {
            "hgvs": "NP_000776.1:p.Thr321="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1172,
          "referenceAllele": "C",
          "start": 1171
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002606",
      "geneNCBI_id": 1594,
      "geneSymbol": "CYP27B1",
      "hgvs": [
        "ENST00000228606.8:c.962C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000228606.4:p.Thr321="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248633"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 762,
          "referenceAllele": "C",
          "start": 761
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002606",
      "geneNCBI_id": 1594,
      "geneSymbol": "CYP27B1",
      "hgvs": [
        "ENST00000546567.5:c.257C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000449472.1:p.Thr86="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS365718"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1101,
          "referenceAllele": "C",
          "start": 1100
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002606",
      "geneNCBI_id": 1594,
      "geneSymbol": "CYP27B1",
      "hgvs": [
        "ENST00000547344.5:n.1101C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS366222"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 762,
          "referenceAllele": "C",
          "start": 761
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002606",
      "geneNCBI_id": 1594,
      "geneSymbol": "CYP27B1",
      "hgvs": [
        "ENST00000547451.1:n.762C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS366286"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825214840",
      "coordinates": [
        {
          "allele": "C",
          "end": 1114,
          "referenceAllele": "C",
          "start": 1113
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002606",
      "geneNCBI_id": 1594,
      "geneSymbol": "CYP27B1",
      "hgvs": [
        "NM_000785.3:c.962C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000776.1:p.Thr321="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006814"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825214840",
      "coordinates": [
        {
          "allele": "C",
          "end": 999,
          "referenceAllele": "C",
          "start": 998
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002606",
      "geneNCBI_id": 1594,
      "geneSymbol": "CYP27B1",
      "hgvs": [
        "NM_000785.4:c.962C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000776.1:p.Thr321="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662579",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000228606.9:c.962C="
          },
          "RefSeq": {
            "hgvs": "NM_000785.4:c.962C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000228606.4:p.Thr321="
          },
          "RefSeq": {
            "hgvs": "NP_000776.1:p.Thr321="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}