{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2112898",
  "communityStandardTitle": [
    "NM_000784.4(CYP27A1):c.1456A>T (p.Met486Leu)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1090780[alleleid]",
        "alleleId": 1090780,
        "preferredName": "NM_000784.4(CYP27A1):c.1456A>T (p.Met486Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1108890",
        "RCV": [
          "RCV001434529",
          "RCV002395995",
          "RCV003151857"
        ],
        "variationId": 1108890
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/2-219679460-A-T",
        "id": "2-219679460-A-T",
        "variant": "2:219679460 A / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.219679460A>T?assembly=hg19",
        "id": "chr2:g.219679460A>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.218814737A>T?assembly=hg38",
        "id": "chr2:g.218814737A>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/150585977",
        "rs": 150585977
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-219679460-A-T?dataset=gnomad_r2_1",
        "id": "2-219679460-A-T",
        "variant": "2:219679460 A / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-218814737-A-T?dataset=gnomad_r3",
        "id": "2-218814737-A-T",
        "variant": "2:218814737 A / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-218814737-A-T?dataset=gnomad_r4",
        "id": "2-218814737-A-T",
        "variant": "2:218814737 A / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 218814737,
          "referenceAllele": "A",
          "start": 218814736
        }
      ],
      "hgvs": [
        "NC_000002.12:g.218814737A>T",
        "CM000664.2:g.218814737A>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 219679460,
          "referenceAllele": "A",
          "start": 219679459
        }
      ],
      "hgvs": [
        "NC_000002.11:g.219679460A>T",
        "CM000664.1:g.219679460A>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 219387704,
          "referenceAllele": "A",
          "start": 219387703
        }
      ],
      "hgvs": [
        "NC_000002.10:g.219387704A>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 37989,
          "referenceAllele": "A",
          "start": 37988
        }
      ],
      "hgvs": [
        "NG_007959.1:g.37989A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000727"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1492,
          "referenceAllele": "A",
          "start": 1491
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002605",
      "geneNCBI_id": 1593,
      "geneSymbol": "CYP27A1",
      "hgvs": [
        "ENST00000258415.9:c.1456A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000258415.4:p.Met486Leu",
        "hgvsWellDefined": "ENSP00000258415.4:p.Met486Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741905",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000258415.9:c.1456A>T"
          },
          "RefSeq": {
            "hgvs": "NM_000784.4:c.1456A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000258415.4:p.Met486Leu"
          },
          "RefSeq": {
            "hgvs": "NP_000775.1:p.Met486Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1883,
          "referenceAllele": "A",
          "start": 1882
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002605",
      "geneNCBI_id": 1593,
      "geneSymbol": "CYP27A1",
      "hgvs": [
        "ENST00000258415.8:c.1456A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000258415.4:p.Met486Leu",
        "hgvsWellDefined": "ENSP00000258415.4:p.Met486Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250383"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2168,
          "referenceAllele": "A",
          "start": 2167
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002605",
      "geneNCBI_id": 1593,
      "geneSymbol": "CYP27A1",
      "hgvs": [
        "ENST00000494263.5:n.2168A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS331239"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499234147",
      "coordinates": [
        {
          "allele": "T",
          "end": 1890,
          "referenceAllele": "A",
          "start": 1889
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002605",
      "geneNCBI_id": 1593,
      "geneSymbol": "CYP27A1",
      "hgvs": [
        "NM_000784.3:c.1456A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000775.1:p.Met486Leu",
        "hgvsWellDefined": "NP_000775.1:p.Met486Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006813"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1715,
          "referenceAllele": "A",
          "start": 1714
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002605",
      "geneNCBI_id": 1593,
      "geneSymbol": "CYP27A1",
      "hgvs": [
        "XM_017003488.2:c.1036A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016858977.1:p.Met346Leu",
        "hgvsWellDefined": "XP_016858977.1:p.Met346Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559207"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499234147",
      "coordinates": [
        {
          "allele": "T",
          "end": 1492,
          "referenceAllele": "A",
          "start": 1491
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002605",
      "geneNCBI_id": 1593,
      "geneSymbol": "CYP27A1",
      "hgvs": [
        "NM_000784.4:c.1456A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000775.1:p.Met486Leu",
        "hgvsWellDefined": "NP_000775.1:p.Met486Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662578",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000258415.9:c.1456A>T"
          },
          "RefSeq": {
            "hgvs": "NM_000784.4:c.1456A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000258415.4:p.Met486Leu"
          },
          "RefSeq": {
            "hgvs": "NP_000775.1:p.Met486Leu"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}