{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA202254",
  "communityStandardTitle": [
    "NM_000500.9(CYP21A2):c.293-13C>A"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "active": false,
        "id": "COSN9974499"
      },
      {
        "active": false,
        "id": "COSN20088938"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=193439[alleleid]",
        "alleleId": 193439,
        "preferredName": "NM_000500.9(CYP21A2):c.293-13C>A"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/196278",
        "RCV": [
          "RCV000177075",
          "RCV001253607",
          "RCV001657953"
        ],
        "variationId": 196278
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/6-32006858-C-A",
        "id": "6-32006858-C-A",
        "variant": "6:32006858 C / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.32006858C>A?assembly=hg19",
        "id": "chr6:g.32006858C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.32039081C>A?assembly=hg38",
        "id": "chr6:g.32039081C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/6467",
        "rs": 6467
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-32006858-C-A?dataset=gnomad_r2_1",
        "id": "6-32006858-C-A",
        "variant": "6:32006858 C / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-32039081-C-A?dataset=gnomad_r3",
        "id": "6-32039081-C-A",
        "variant": "6:32039081 C / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-32039081-C-A?dataset=gnomad_r4",
        "id": "6-32039081-C-A",
        "variant": "6:32039081 C / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "A",
          "end": 32039081,
          "referenceAllele": "C",
          "start": 32039080
        }
      ],
      "hgvs": [
        "NC_000006.12:g.32039081C>A",
        "CM000668.2:g.32039081C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "A",
          "end": 32006858,
          "referenceAllele": "C",
          "start": 32006857
        }
      ],
      "hgvs": [
        "NC_000006.11:g.32006858C>A",
        "CM000668.1:g.32006858C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "A",
          "end": 32114837,
          "referenceAllele": "C",
          "start": 32114836
        }
      ],
      "hgvs": [
        "NC_000006.10:g.32114837C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5774,
          "referenceAllele": "C",
          "start": 5773
        }
      ],
      "hgvs": [
        "NG_007941.2:g.5774C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000708"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5777,
          "referenceAllele": "C",
          "start": 5776
        }
      ],
      "hgvs": [
        "NG_007941.3:g.5777C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000709"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 300,
          "endIntronDirection": "-",
          "endIntronOffset": 12,
          "referenceAllele": "C",
          "start": 300,
          "startIntronDirection": "-",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002600",
      "geneNCBI_id": 1589,
      "geneSymbol": "CYP21A2",
      "hgvs": [
        "ENST00000644719.2:c.293-13C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496625.1:n.293-13C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767963",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000644719.2:c.293-13C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000500.9:c.293-13C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000496625.1:n.293-13C>A"
          },
          "RefSeq": {
            "hgvs": "NP_000491.4:n.293-13C>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 450,
          "endIntronDirection": "-",
          "endIntronOffset": 12,
          "referenceAllele": "C",
          "start": 450,
          "startIntronDirection": "-",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002600",
      "geneNCBI_id": 1589,
      "geneSymbol": "CYP21A2",
      "hgvs": [
        "ENST00000418967.6:c.293-13C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000408860.2:n.293-13C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS285656"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 210,
          "endIntronDirection": "-",
          "endIntronOffset": 12,
          "referenceAllele": "C",
          "start": 210,
          "startIntronDirection": "-",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002600",
      "geneNCBI_id": 1589,
      "geneSymbol": "CYP21A2",
      "hgvs": [
        "ENST00000435122.3:c.203-13C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000415043.2:n.203-13C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS293369"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 229,
          "endIntronDirection": "-",
          "endIntronOffset": 28,
          "referenceAllele": "C",
          "start": 229,
          "startIntronDirection": "-",
          "startIntronOffset": 29
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002600",
      "geneNCBI_id": 1589,
      "geneSymbol": "CYP21A2",
      "hgvs": [
        "ENST00000464325.5:n.230-29C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS308184"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 395,
          "referenceAllele": "C",
          "start": 394
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002600",
      "geneNCBI_id": 1589,
      "geneSymbol": "CYP21A2",
      "hgvs": [
        "ENST00000466779.5:c.299C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417321.1:p.Thr100Asn",
        "hgvsWellDefined": "ENSP00000417321.1:p.Thr100Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS310053"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 331,
          "referenceAllele": "C",
          "start": 330
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002600",
      "geneNCBI_id": 1589,
      "geneSymbol": "CYP21A2",
      "hgvs": [
        "ENST00000466879.5:n.331C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS310129"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 216,
          "referenceAllele": "C",
          "start": 215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002600",
      "geneNCBI_id": 1589,
      "geneSymbol": "CYP21A2",
      "hgvs": [
        "ENST00000469053.5:c.209C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418104.1:p.Thr70Asn",
        "hgvsWellDefined": "ENSP00000418104.1:p.Thr70Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS311823"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 300,
          "endIntronDirection": "-",
          "endIntronOffset": 12,
          "referenceAllele": "C",
          "start": 300,
          "startIntronDirection": "-",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002600",
      "geneNCBI_id": 1589,
      "geneSymbol": "CYP21A2",
      "hgvs": [
        "ENST00000471671.4:c.293-13C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418561.1:n.293-13C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS313812"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 354,
          "referenceAllele": "C",
          "start": 353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002600",
      "geneNCBI_id": 1589,
      "geneSymbol": "CYP21A2",
      "hgvs": [
        "ENST00000478281.5:c.313C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419572.1:p.Pro105Thr",
        "hgvsWellDefined": "ENSP00000419572.1:p.Pro105Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS318924"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 350,
          "endIntronDirection": "-",
          "endIntronOffset": 12,
          "referenceAllele": "C",
          "start": 350,
          "startIntronDirection": "-",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002600",
      "geneNCBI_id": 1589,
      "geneSymbol": "CYP21A2",
      "hgvs": [
        "ENST00000479074.5:n.351-13C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS319535"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 447,
          "endIntronDirection": "-",
          "endIntronOffset": 12,
          "referenceAllele": "C",
          "start": 447,
          "startIntronDirection": "-",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002600",
      "geneNCBI_id": 1589,
      "geneSymbol": "CYP21A2",
      "hgvs": [
        "ENST00000479730.5:n.448-13C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS320037"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 615,
          "referenceAllele": "C",
          "start": 614
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002600",
      "geneNCBI_id": 1589,
      "geneSymbol": "CYP21A2",
      "hgvs": [
        "ENST00000480027.1:n.615C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS320276"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 449,
          "referenceAllele": "C",
          "start": 448
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002600",
      "geneNCBI_id": 1589,
      "geneSymbol": "CYP21A2",
      "hgvs": [
        "ENST00000483041.5:n.449C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS322604"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 472,
          "endIntronDirection": "-",
          "endIntronOffset": 12,
          "referenceAllele": "C",
          "start": 472,
          "startIntronDirection": "-",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002600",
      "geneNCBI_id": 1589,
      "geneSymbol": "CYP21A2",
      "hgvs": [
        "ENST00000486063.5:n.473-13C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS324957"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 300,
          "endIntronDirection": "-",
          "endIntronOffset": 12,
          "referenceAllele": "C",
          "start": 300,
          "startIntronDirection": "-",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002600",
      "geneNCBI_id": 1589,
      "geneSymbol": "CYP21A2",
      "hgvs": [
        "ENST00000488465.1:n.301-13C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS326762"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 399,
          "endIntronDirection": "-",
          "endIntronOffset": 12,
          "referenceAllele": "C",
          "start": 399,
          "startIntronDirection": "-",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002600",
      "geneNCBI_id": 1589,
      "geneSymbol": "CYP21A2",
      "hgvs": [
        "NM_000500.7:c.293-13C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000491.4:n.293-13C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006554"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 309,
          "endIntronDirection": "-",
          "endIntronOffset": 12,
          "referenceAllele": "C",
          "start": 309,
          "startIntronDirection": "-",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002600",
      "geneNCBI_id": 1589,
      "geneSymbol": "CYP21A2",
      "hgvs": [
        "NM_001128590.3:c.203-13C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001122062.3:n.203-13C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011786"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 352,
          "referenceAllele": "C",
          "start": 351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002600",
      "geneNCBI_id": 1589,
      "geneSymbol": "CYP21A2",
      "hgvs": [
        "XM_011514314.1:c.-126C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512616.1:n.-126C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081539"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 300,
          "endIntronDirection": "-",
          "endIntronOffset": 12,
          "referenceAllele": "C",
          "start": 300,
          "startIntronDirection": "-",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002600",
      "geneNCBI_id": 1589,
      "geneSymbol": "CYP21A2",
      "hgvs": [
        "NM_000500.9:c.293-13C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000491.4:n.293-13C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510804",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000644719.2:c.293-13C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000500.9:c.293-13C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000496625.1:n.293-13C>A"
          },
          "RefSeq": {
            "hgvs": "NP_000491.4:n.293-13C>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 416,
          "referenceAllele": "C",
          "start": 415
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002600",
      "geneNCBI_id": 1589,
      "geneSymbol": "CYP21A2",
      "hgvs": [
        "NM_001368143.1:c.-126C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355072.1:n.-126C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691373"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 326,
          "referenceAllele": "C",
          "start": 325
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002600",
      "geneNCBI_id": 1589,
      "geneSymbol": "CYP21A2",
      "hgvs": [
        "NM_001368144.1:c.-126C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355073.1:n.-126C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691374"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 210,
          "endIntronDirection": "-",
          "endIntronOffset": 12,
          "referenceAllele": "C",
          "start": 210,
          "startIntronDirection": "-",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002600",
      "geneNCBI_id": 1589,
      "geneSymbol": "CYP21A2",
      "hgvs": [
        "NM_001128590.4:c.203-13C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001122062.3:n.203-13C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712257"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 307,
          "referenceAllele": "C",
          "start": 306
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002600",
      "geneNCBI_id": 1589,
      "geneSymbol": "CYP21A2",
      "hgvs": [
        "NM_001368143.2:c.-126C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355072.1:n.-126C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721082"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 217,
          "referenceAllele": "C",
          "start": 216
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002600",
      "geneNCBI_id": 1589,
      "geneSymbol": "CYP21A2",
      "hgvs": [
        "NM_001368144.2:c.-126C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355073.1:n.-126C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721083"
    }
  ],
  "type": "nucleotide"
}