{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1619396954",
  "communityStandardTitle": [
    "NM_000500.9(CYP21A2):c.518T= (p.Ile173=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/6475",
        "rs": 6475
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 32039426,
          "referenceAllele": "T",
          "start": 32039425
        }
      ],
      "hgvs": [
        "NC_000006.12:g.32039426T=",
        "CM000668.2:g.32039426T="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 32007203,
          "referenceAllele": "T",
          "start": 32007202
        }
      ],
      "hgvs": [
        "NC_000006.11:g.32007203T=",
        "CM000668.1:g.32007203T="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 32115182,
          "referenceAllele": "T",
          "start": 32115181
        }
      ],
      "hgvs": [
        "NC_000006.10:g.32115182T="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6119,
          "referenceAllele": "T",
          "start": 6118
        }
      ],
      "hgvs": [
        "NG_007941.2:g.6119T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000708"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 74949,
          "referenceAllele": "A",
          "start": 74948
        }
      ],
      "hgvs": [
        "NG_008337.2:g.74949A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001038"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6122,
          "referenceAllele": "T",
          "start": 6121
        }
      ],
      "hgvs": [
        "NG_007941.3:g.6122T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000709"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 526,
          "referenceAllele": "T",
          "start": 525
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002600",
      "geneNCBI_id": 1589,
      "geneSymbol": "CYP21A2",
      "hgvs": [
        "ENST00000644719.2:c.518T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496625.1:p.Ile173="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767963",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000644719.2:c.518T="
          },
          "RefSeq": {
            "hgvs": "NM_000500.9:c.518T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000496625.1:p.Ile173="
          },
          "RefSeq": {
            "hgvs": "NP_000491.4:p.Ile173="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 676,
          "referenceAllele": "T",
          "start": 675
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002600",
      "geneNCBI_id": 1589,
      "geneSymbol": "CYP21A2",
      "hgvs": [
        "ENST00000418967.6:c.518T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000408860.2:p.Ile173="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS285656"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 436,
          "referenceAllele": "T",
          "start": 435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002600",
      "geneNCBI_id": 1589,
      "geneSymbol": "CYP21A2",
      "hgvs": [
        "ENST00000435122.3:c.428T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000415043.2:p.Ile143="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS293369"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 106,
          "referenceAllele": "T",
          "start": 105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002600",
      "geneNCBI_id": 1589,
      "geneSymbol": "CYP21A2",
      "hgvs": [
        "ENST00000462278.1:n.106T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS306575"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 439,
          "referenceAllele": "T",
          "start": 438
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002600",
      "geneNCBI_id": 1589,
      "geneSymbol": "CYP21A2",
      "hgvs": [
        "ENST00000464325.5:n.439T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS308184"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 633,
          "referenceAllele": "T",
          "start": 632
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002600",
      "geneNCBI_id": 1589,
      "geneSymbol": "CYP21A2",
      "hgvs": [
        "ENST00000466779.5:c.*210T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417321.1:n.*210T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS310053"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 569,
          "referenceAllele": "T",
          "start": 568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002600",
      "geneNCBI_id": 1589,
      "geneSymbol": "CYP21A2",
      "hgvs": [
        "ENST00000466879.5:n.569T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS310129"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 454,
          "referenceAllele": "T",
          "start": 453
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002600",
      "geneNCBI_id": 1589,
      "geneSymbol": "CYP21A2",
      "hgvs": [
        "ENST00000469053.5:c.*210T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418104.1:n.*210T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS311823"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 526,
          "referenceAllele": "T",
          "start": 525
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002600",
      "geneNCBI_id": 1589,
      "geneSymbol": "CYP21A2",
      "hgvs": [
        "ENST00000471671.4:c.518T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418561.1:p.Ile173="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS313812"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 592,
          "referenceAllele": "T",
          "start": 591
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002600",
      "geneNCBI_id": 1589,
      "geneSymbol": "CYP21A2",
      "hgvs": [
        "ENST00000478281.5:c.551T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419572.1:p.Ile184="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS318924"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 576,
          "referenceAllele": "T",
          "start": 575
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002600",
      "geneNCBI_id": 1589,
      "geneSymbol": "CYP21A2",
      "hgvs": [
        "ENST00000479074.5:n.576T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS319535"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 673,
          "referenceAllele": "T",
          "start": 672
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002600",
      "geneNCBI_id": 1589,
      "geneSymbol": "CYP21A2",
      "hgvs": [
        "ENST00000479730.5:n.673T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS320037"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 687,
          "referenceAllele": "T",
          "start": 686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002600",
      "geneNCBI_id": 1589,
      "geneSymbol": "CYP21A2",
      "hgvs": [
        "ENST00000483041.5:n.687T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS322604"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 698,
          "referenceAllele": "T",
          "start": 697
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002600",
      "geneNCBI_id": 1589,
      "geneSymbol": "CYP21A2",
      "hgvs": [
        "ENST00000486063.5:n.698T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS324957"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 526,
          "referenceAllele": "T",
          "start": 525
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002600",
      "geneNCBI_id": 1589,
      "geneSymbol": "CYP21A2",
      "hgvs": [
        "ENST00000488465.1:n.526T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS326762"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3072124090",
      "coordinates": [
        {
          "allele": "T",
          "end": 625,
          "referenceAllele": "T",
          "start": 624
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002600",
      "geneNCBI_id": 1589,
      "geneSymbol": "CYP21A2",
      "hgvs": [
        "NM_000500.7:c.518T="
      ],
      "proteinEffect": {
        "hgvs": "NP_000491.4:p.Ile173="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006554"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 535,
          "referenceAllele": "T",
          "start": 534
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002600",
      "geneNCBI_id": 1589,
      "geneSymbol": "CYP21A2",
      "hgvs": [
        "NM_001128590.3:c.428T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001122062.3:p.Ile143="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011786"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 590,
          "referenceAllele": "T",
          "start": 589
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002600",
      "geneNCBI_id": 1589,
      "geneSymbol": "CYP21A2",
      "hgvs": [
        "XM_011514314.1:c.113T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011512616.1:p.Ile38="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081539"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3072124090",
      "coordinates": [
        {
          "allele": "T",
          "end": 526,
          "referenceAllele": "T",
          "start": 525
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002600",
      "geneNCBI_id": 1589,
      "geneSymbol": "CYP21A2",
      "hgvs": [
        "NM_000500.9:c.518T="
      ],
      "proteinEffect": {
        "hgvs": "NP_000491.4:p.Ile173="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510804",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000644719.2:c.518T="
          },
          "RefSeq": {
            "hgvs": "NM_000500.9:c.518T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000496625.1:p.Ile173="
          },
          "RefSeq": {
            "hgvs": "NP_000491.4:p.Ile173="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 654,
          "referenceAllele": "T",
          "start": 653
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002600",
      "geneNCBI_id": 1589,
      "geneSymbol": "CYP21A2",
      "hgvs": [
        "NM_001368143.1:c.113T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001355072.1:p.Ile38="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691373"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 564,
          "referenceAllele": "T",
          "start": 563
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002600",
      "geneNCBI_id": 1589,
      "geneSymbol": "CYP21A2",
      "hgvs": [
        "NM_001368144.1:c.113T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001355073.1:p.Ile38="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691374"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 436,
          "referenceAllele": "T",
          "start": 435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002600",
      "geneNCBI_id": 1589,
      "geneSymbol": "CYP21A2",
      "hgvs": [
        "NM_001128590.4:c.428T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001122062.3:p.Ile143="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712257"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 545,
          "referenceAllele": "T",
          "start": 544
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002600",
      "geneNCBI_id": 1589,
      "geneSymbol": "CYP21A2",
      "hgvs": [
        "NM_001368143.2:c.113T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001355072.1:p.Ile38="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721082"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 455,
          "referenceAllele": "T",
          "start": 454
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002600",
      "geneNCBI_id": 1589,
      "geneSymbol": "CYP21A2",
      "hgvs": [
        "NM_001368144.2:c.113T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001355073.1:p.Ile38="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721083"
    }
  ],
  "type": "nucleotide"
}