{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10606938",
  "communityStandardTitle": [
    "NM_000784.4(CYP27A1):c.1311C>T (p.Ala437=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=275144[alleleid]",
        "alleleId": 275144,
        "preferredName": "NM_000784.4(CYP27A1):c.1311C>T (p.Ala437=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/290907",
        "RCV": [
          "RCV000309386",
          "RCV001408726"
        ],
        "variationId": 290907
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.219679315C>T?assembly=hg19",
        "id": "chr2:g.219679315C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.218814592C>T?assembly=hg38",
        "id": "chr2:g.218814592C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/886044581",
        "rs": 886044581
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-219679315-C-T?dataset=gnomad_r2_1",
        "id": "2-219679315-C-T",
        "variant": "2:219679315 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-218814592-C-T?dataset=gnomad_r3",
        "id": "2-218814592-C-T",
        "variant": "2:218814592 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-218814592-C-T?dataset=gnomad_r4",
        "id": "2-218814592-C-T",
        "variant": "2:218814592 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 218814592,
          "referenceAllele": "C",
          "start": 218814591
        }
      ],
      "hgvs": [
        "NC_000002.12:g.218814592C>T",
        "CM000664.2:g.218814592C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 219679315,
          "referenceAllele": "C",
          "start": 219679314
        }
      ],
      "hgvs": [
        "NC_000002.11:g.219679315C>T",
        "CM000664.1:g.219679315C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 219387559,
          "referenceAllele": "C",
          "start": 219387558
        }
      ],
      "hgvs": [
        "NC_000002.10:g.219387559C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 37844,
          "referenceAllele": "C",
          "start": 37843
        }
      ],
      "hgvs": [
        "NG_007959.1:g.37844C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000727"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1347,
          "referenceAllele": "C",
          "start": 1346
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002605",
      "geneNCBI_id": 1593,
      "geneSymbol": "CYP27A1",
      "hgvs": [
        "ENST00000258415.9:c.1311C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000258415.4:p.Ala437="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741905",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000258415.9:c.1311C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000784.4:c.1311C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000258415.4:p.Ala437="
          },
          "RefSeq": {
            "hgvs": "NP_000775.1:p.Ala437="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1738,
          "referenceAllele": "C",
          "start": 1737
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002605",
      "geneNCBI_id": 1593,
      "geneSymbol": "CYP27A1",
      "hgvs": [
        "ENST00000258415.8:c.1311C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000258415.4:p.Ala437="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250383"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2023,
          "referenceAllele": "C",
          "start": 2022
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002605",
      "geneNCBI_id": 1593,
      "geneSymbol": "CYP27A1",
      "hgvs": [
        "ENST00000494263.5:n.2023C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS331239"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825214237",
      "coordinates": [
        {
          "allele": "T",
          "end": 1745,
          "referenceAllele": "C",
          "start": 1744
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002605",
      "geneNCBI_id": 1593,
      "geneSymbol": "CYP27A1",
      "hgvs": [
        "NM_000784.3:c.1311C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000775.1:p.Ala437="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006813"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1570,
          "referenceAllele": "C",
          "start": 1569
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002605",
      "geneNCBI_id": 1593,
      "geneSymbol": "CYP27A1",
      "hgvs": [
        "XM_017003488.2:c.891C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016858977.1:p.Ala297="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559207"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825214237",
      "coordinates": [
        {
          "allele": "T",
          "end": 1347,
          "referenceAllele": "C",
          "start": 1346
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002605",
      "geneNCBI_id": 1593,
      "geneSymbol": "CYP27A1",
      "hgvs": [
        "NM_000784.4:c.1311C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000775.1:p.Ala437="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662578",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000258415.9:c.1311C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000784.4:c.1311C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000258415.4:p.Ala437="
          },
          "RefSeq": {
            "hgvs": "NP_000775.1:p.Ala437="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}