{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1619397304",
  "communityStandardTitle": [
    "NM_000500.9(CYP21A2):c.806G= (p.Ser269=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/6472",
        "rs": 6472
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "G",
          "end": 32040072,
          "referenceAllele": "G",
          "start": 32040071
        }
      ],
      "hgvs": [
        "NC_000006.12:g.32040072G=",
        "CM000668.2:g.32040072G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "G",
          "end": 32007849,
          "referenceAllele": "G",
          "start": 32007848
        }
      ],
      "hgvs": [
        "NC_000006.11:g.32007849G=",
        "CM000668.1:g.32007849G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "G",
          "end": 32115828,
          "referenceAllele": "G",
          "start": 32115827
        }
      ],
      "hgvs": [
        "NC_000006.10:g.32115828G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6765,
          "referenceAllele": "G",
          "start": 6764
        }
      ],
      "hgvs": [
        "NG_007941.2:g.6765G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000708"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 74303,
          "referenceAllele": "C",
          "start": 74302
        }
      ],
      "hgvs": [
        "NG_008337.2:g.74303C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001038"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6768,
          "referenceAllele": "G",
          "start": 6767
        }
      ],
      "hgvs": [
        "NG_007941.3:g.6768G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000709"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 814,
          "referenceAllele": "G",
          "start": 813
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002600",
      "geneNCBI_id": 1589,
      "geneSymbol": "CYP21A2",
      "hgvs": [
        "ENST00000644719.2:c.806G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496625.1:p.Ser269="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767963",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000644719.2:c.806G="
          },
          "RefSeq": {
            "hgvs": "NM_000500.9:c.806G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000496625.1:p.Ser269="
          },
          "RefSeq": {
            "hgvs": "NP_000491.4:p.Ser269="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 964,
          "referenceAllele": "G",
          "start": 963
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002600",
      "geneNCBI_id": 1589,
      "geneSymbol": "CYP21A2",
      "hgvs": [
        "ENST00000418967.6:c.806G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000408860.2:p.Ser269="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS285656"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 724,
          "referenceAllele": "G",
          "start": 723
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002600",
      "geneNCBI_id": 1589,
      "geneSymbol": "CYP21A2",
      "hgvs": [
        "ENST00000435122.3:c.716G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000415043.2:p.Ser239="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS293369"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 864,
          "referenceAllele": "G",
          "start": 863
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002600",
      "geneNCBI_id": 1589,
      "geneSymbol": "CYP21A2",
      "hgvs": [
        "ENST00000479074.5:n.864G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS319535"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 922,
          "referenceAllele": "G",
          "start": 921
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002600",
      "geneNCBI_id": 1589,
      "geneSymbol": "CYP21A2",
      "hgvs": [
        "ENST00000479730.5:n.922G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS320037"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 975,
          "referenceAllele": "G",
          "start": 974
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002600",
      "geneNCBI_id": 1589,
      "geneSymbol": "CYP21A2",
      "hgvs": [
        "ENST00000483041.5:n.975G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS322604"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 918,
          "endIntronDirection": "+",
          "endIntronOffset": 237,
          "referenceAllele": "G",
          "start": 918,
          "startIntronDirection": "+",
          "startIntronOffset": 236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002600",
      "geneNCBI_id": 1589,
      "geneSymbol": "CYP21A2",
      "hgvs": [
        "ENST00000486063.5:n.918+237G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS324957"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3072124095",
      "coordinates": [
        {
          "allele": "G",
          "end": 913,
          "referenceAllele": "G",
          "start": 912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002600",
      "geneNCBI_id": 1589,
      "geneSymbol": "CYP21A2",
      "hgvs": [
        "NM_000500.7:c.806G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000491.4:p.Ser269="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006554"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 823,
          "referenceAllele": "G",
          "start": 822
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002600",
      "geneNCBI_id": 1589,
      "geneSymbol": "CYP21A2",
      "hgvs": [
        "NM_001128590.3:c.716G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001122062.3:p.Ser239="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011786"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 878,
          "referenceAllele": "G",
          "start": 877
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002600",
      "geneNCBI_id": 1589,
      "geneSymbol": "CYP21A2",
      "hgvs": [
        "XM_011514314.1:c.401G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011512616.1:p.Ser134="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081539"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3072124095",
      "coordinates": [
        {
          "allele": "G",
          "end": 814,
          "referenceAllele": "G",
          "start": 813
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002600",
      "geneNCBI_id": 1589,
      "geneSymbol": "CYP21A2",
      "hgvs": [
        "NM_000500.9:c.806G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000491.4:p.Ser269="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510804",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000644719.2:c.806G="
          },
          "RefSeq": {
            "hgvs": "NM_000500.9:c.806G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000496625.1:p.Ser269="
          },
          "RefSeq": {
            "hgvs": "NP_000491.4:p.Ser269="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 942,
          "referenceAllele": "G",
          "start": 941
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002600",
      "geneNCBI_id": 1589,
      "geneSymbol": "CYP21A2",
      "hgvs": [
        "NM_001368143.1:c.401G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001355072.1:p.Ser134="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691373"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 852,
          "referenceAllele": "G",
          "start": 851
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002600",
      "geneNCBI_id": 1589,
      "geneSymbol": "CYP21A2",
      "hgvs": [
        "NM_001368144.1:c.401G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001355073.1:p.Ser134="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691374"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 724,
          "referenceAllele": "G",
          "start": 723
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002600",
      "geneNCBI_id": 1589,
      "geneSymbol": "CYP21A2",
      "hgvs": [
        "NM_001128590.4:c.716G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001122062.3:p.Ser239="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712257"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 833,
          "referenceAllele": "G",
          "start": 832
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002600",
      "geneNCBI_id": 1589,
      "geneSymbol": "CYP21A2",
      "hgvs": [
        "NM_001368143.2:c.401G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001355072.1:p.Ser134="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721082"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 743,
          "referenceAllele": "G",
          "start": 742
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002600",
      "geneNCBI_id": 1589,
      "geneSymbol": "CYP21A2",
      "hgvs": [
        "NM_001368144.2:c.401G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001355073.1:p.Ser134="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721083"
    }
  ],
  "type": "nucleotide"
}