{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA385506997",
  "communityStandardTitle": [
    "NM_000785.4(CYP27B1):c.428C>T (p.Pro143Leu)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1056123[alleleid]",
        "alleleId": 1056123,
        "preferredName": "NM_000785.4(CYP27B1):c.428C>T (p.Pro143Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1067732",
        "RCV": [
          "RCV001379078"
        ],
        "variationId": 1067732
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.58159241G>A?assembly=hg19",
        "id": "chr12:g.58159241G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.57765458G>A?assembly=hg38",
        "id": "chr12:g.57765458G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1222556174",
        "rs": 1222556174
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-58159241-G-A?dataset=gnomad_r2_1",
        "id": "12-58159241-G-A",
        "variant": "12:58159241 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-57765458-G-A?dataset=gnomad_r3",
        "id": "12-57765458-G-A",
        "variant": "12:57765458 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-57765458-G-A?dataset=gnomad_r4",
        "id": "12-57765458-G-A",
        "variant": "12:57765458 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 57765458,
          "referenceAllele": "G",
          "start": 57765457
        }
      ],
      "hgvs": [
        "NC_000012.12:g.57765458G>A",
        "CM000674.2:g.57765458G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 58159241,
          "referenceAllele": "G",
          "start": 58159240
        }
      ],
      "hgvs": [
        "NC_000012.11:g.58159241G>A",
        "CM000674.1:g.58159241G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 56445508,
          "referenceAllele": "G",
          "start": 56445507
        }
      ],
      "hgvs": [
        "NC_000012.10:g.56445508G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6736,
          "referenceAllele": "C",
          "start": 6735
        }
      ],
      "hgvs": [
        "NG_007076.1:g.6736C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000456"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 340,
          "referenceAllele": "C",
          "start": 339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002606",
      "geneNCBI_id": 1594,
      "geneSymbol": "CYP27B1",
      "hgvs": [
        "ENST00000546609.2:n.340C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS914254"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 546,
          "referenceAllele": "C",
          "start": 545
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002606",
      "geneNCBI_id": 1594,
      "geneSymbol": "CYP27B1",
      "hgvs": [
        "ENST00000713544.1:c.509C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518840.1:p.Pro170Leu",
        "hgvsWellDefined": "ENSP00000518840.1:p.Pro170Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914841"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 523,
          "referenceAllele": "C",
          "start": 522
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002606",
      "geneNCBI_id": 1594,
      "geneSymbol": "CYP27B1",
      "hgvs": [
        "ENST00000713545.1:c.486C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518841.1:p.Pro162="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914842"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 465,
          "referenceAllele": "C",
          "start": 464
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002606",
      "geneNCBI_id": 1594,
      "geneSymbol": "CYP27B1",
      "hgvs": [
        "ENST00000228606.9:c.428C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000228606.4:p.Pro143Leu",
        "hgvsWellDefined": "ENSP00000228606.4:p.Pro143Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740753",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000228606.9:c.428C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000785.4:c.428C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000228606.4:p.Pro143Leu"
          },
          "RefSeq": {
            "hgvs": "NP_000776.1:p.Pro143Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 638,
          "referenceAllele": "C",
          "start": 637
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002606",
      "geneNCBI_id": 1594,
      "geneSymbol": "CYP27B1",
      "hgvs": [
        "ENST00000228606.8:c.428C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000228606.4:p.Pro143Leu",
        "hgvsWellDefined": "ENSP00000228606.4:p.Pro143Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248633"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 228,
          "referenceAllele": "C",
          "start": 227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002606",
      "geneNCBI_id": 1594,
      "geneSymbol": "CYP27B1",
      "hgvs": [
        "ENST00000546567.5:c.-278C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000449472.1:n.-278C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS365718"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 340,
          "referenceAllele": "C",
          "start": 339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002606",
      "geneNCBI_id": 1594,
      "geneSymbol": "CYP27B1",
      "hgvs": [
        "ENST00000546609.1:c.340C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS365746"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 482,
          "referenceAllele": "C",
          "start": 481
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002606",
      "geneNCBI_id": 1594,
      "geneSymbol": "CYP27B1",
      "hgvs": [
        "ENST00000547344.5:n.482C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS366222"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 228,
          "referenceAllele": "C",
          "start": 227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002606",
      "geneNCBI_id": 1594,
      "geneSymbol": "CYP27B1",
      "hgvs": [
        "ENST00000547451.1:n.228C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS366286"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 547,
          "referenceAllele": "C",
          "start": 546
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002606",
      "geneNCBI_id": 1594,
      "geneSymbol": "CYP27B1",
      "hgvs": [
        "ENST00000552186.1:n.547C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS369097"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499234152",
      "coordinates": [
        {
          "allele": "T",
          "end": 580,
          "referenceAllele": "C",
          "start": 579
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002606",
      "geneNCBI_id": 1594,
      "geneSymbol": "CYP27B1",
      "hgvs": [
        "NM_000785.3:c.428C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000776.1:p.Pro143Leu",
        "hgvsWellDefined": "NP_000776.1:p.Pro143Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006814"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499234152",
      "coordinates": [
        {
          "allele": "T",
          "end": 465,
          "referenceAllele": "C",
          "start": 464
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002606",
      "geneNCBI_id": 1594,
      "geneSymbol": "CYP27B1",
      "hgvs": [
        "NM_000785.4:c.428C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000776.1:p.Pro143Leu",
        "hgvsWellDefined": "NP_000776.1:p.Pro143Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662579",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000228606.9:c.428C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000785.4:c.428C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000228606.4:p.Pro143Leu"
          },
          "RefSeq": {
            "hgvs": "NP_000776.1:p.Pro143Leu"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}