{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2112501",
  "communityStandardTitle": [
    "NM_000784.4(CYP27A1):c.2T>C (p.Met1Thr)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=266807[alleleid]",
        "alleleId": 266807,
        "preferredName": "NM_000784.4(CYP27A1):c.2T>C (p.Met1Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/282570",
        "RCV": [
          "RCV000286244",
          "RCV000351883",
          "RCV001731556",
          "RCV003422191"
        ],
        "variationId": 282570
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/2-219646907-T-C",
        "id": "2-219646907-T-C",
        "variant": "2:219646907 T / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.219646907T>C?assembly=hg19",
        "id": "chr2:g.219646907T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.218782184T>C?assembly=hg38",
        "id": "chr2:g.218782184T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/759003992",
        "rs": 759003992
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-219646907-T-C?dataset=gnomad_r2_1",
        "id": "2-219646907-T-C",
        "variant": "2:219646907 T / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-218782184-T-C?dataset=gnomad_r3",
        "id": "2-218782184-T-C",
        "variant": "2:218782184 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-218782184-T-C?dataset=gnomad_r4",
        "id": "2-218782184-T-C",
        "variant": "2:218782184 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 218782184,
          "referenceAllele": "T",
          "start": 218782183
        }
      ],
      "hgvs": [
        "NC_000002.12:g.218782184T>C",
        "CM000664.2:g.218782184T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 219646907,
          "referenceAllele": "T",
          "start": 219646906
        }
      ],
      "hgvs": [
        "NC_000002.11:g.219646907T>C",
        "CM000664.1:g.219646907T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 219355151,
          "referenceAllele": "T",
          "start": 219355150
        }
      ],
      "hgvs": [
        "NC_000002.10:g.219355151T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5436,
          "referenceAllele": "T",
          "start": 5435
        }
      ],
      "hgvs": [
        "NG_007959.1:g.5436T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000727"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 38,
          "referenceAllele": "T",
          "start": 37
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002605",
      "geneNCBI_id": 1593,
      "geneSymbol": "CYP27A1",
      "hgvs": [
        "ENST00000258415.9:c.2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000258415.4:p.Met1Thr",
        "hgvsWellDefined": "ENSP00000258415.4:p.Met1Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741905",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000258415.9:c.2T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000784.4:c.2T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000258415.4:p.Met1Thr"
          },
          "RefSeq": {
            "hgvs": "NP_000775.1:p.Met1Thr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 429,
          "referenceAllele": "T",
          "start": 428
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002605",
      "geneNCBI_id": 1593,
      "geneSymbol": "CYP27A1",
      "hgvs": [
        "ENST00000258415.8:c.2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000258415.4:p.Met1Thr",
        "hgvsWellDefined": "ENSP00000258415.4:p.Met1Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250383"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 32,
          "referenceAllele": "T",
          "start": 31
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002605",
      "geneNCBI_id": 1593,
      "geneSymbol": "CYP27A1",
      "hgvs": [
        "ENST00000445971.1:c.2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000404945.1:p.Met1Thr",
        "hgvsWellDefined": "ENSP00000404945.1:p.Met1Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS298530"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 11,
          "referenceAllele": "T",
          "start": 10
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002605",
      "geneNCBI_id": 1593,
      "geneSymbol": "CYP27A1",
      "hgvs": [
        "ENST00000466602.1:n.11T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS309935"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 436,
          "referenceAllele": "T",
          "start": 435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002605",
      "geneNCBI_id": 1593,
      "geneSymbol": "CYP27A1",
      "hgvs": [
        "ENST00000494263.5:n.436T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS331239"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645426063",
      "coordinates": [
        {
          "allele": "C",
          "end": 436,
          "referenceAllele": "T",
          "start": 435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002605",
      "geneNCBI_id": 1593,
      "geneSymbol": "CYP27A1",
      "hgvs": [
        "NM_000784.3:c.2T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000775.1:p.Met1Thr",
        "hgvsWellDefined": "NP_000775.1:p.Met1Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006813"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 452,
          "referenceAllele": "T",
          "start": 451
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002605",
      "geneNCBI_id": 1593,
      "geneSymbol": "CYP27A1",
      "hgvs": [
        "XM_017003488.2:c.-228T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016858977.1:n.-228T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559207"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645426063",
      "coordinates": [
        {
          "allele": "C",
          "end": 38,
          "referenceAllele": "T",
          "start": 37
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002605",
      "geneNCBI_id": 1593,
      "geneSymbol": "CYP27A1",
      "hgvs": [
        "NM_000784.4:c.2T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000775.1:p.Met1Thr",
        "hgvsWellDefined": "NP_000775.1:p.Met1Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662578",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000258415.9:c.2T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000784.4:c.2T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000258415.4:p.Met1Thr"
          },
          "RefSeq": {
            "hgvs": "NP_000775.1:p.Met1Thr"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}