{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2466571524",
  "communityStandardTitle": [
    "NM_001110792.2(MECP2):c.379C= (p.Arg127=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/267608388",
        "rs": 267608388
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 154032241,
          "referenceAllele": "G",
          "start": 154032240
        }
      ],
      "hgvs": [
        "NC_000023.11:g.154032241G=",
        "CM000685.2:g.154032241G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 153297692,
          "referenceAllele": "G",
          "start": 153297691
        }
      ],
      "hgvs": [
        "NC_000023.10:g.153297692G=",
        "CM000685.1:g.153297692G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 152950886,
          "referenceAllele": "G",
          "start": 152950885
        }
      ],
      "hgvs": [
        "NC_000023.9:g.152950886G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 109887,
          "referenceAllele": "C",
          "start": 109886
        }
      ],
      "hgvs": [
        "NG_007107.2:g.109887C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000484"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 109863,
          "referenceAllele": "C",
          "start": 109862
        }
      ],
      "hgvs": [
        "NG_007107.3:g.109863C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS733307"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 555,
          "referenceAllele": "C",
          "start": 554
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "ENST00000303391.11:c.343C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000301948.6:p.Arg115="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745028",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000303391.11:c.343C="
          },
          "RefSeq": {
            "hgvs": "NM_004992.4:c.343C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000301948.6:p.Arg115="
          },
          "RefSeq": {
            "hgvs": "NP_004983.1:p.Arg115="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 431,
          "referenceAllele": "C",
          "start": 430
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "ENST00000453960.7:c.379C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000395535.2:p.Arg127="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756448",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000453960.7:c.379C="
          },
          "RefSeq": {
            "hgvs": "NM_001110792.2:c.379C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000395535.2:p.Arg127="
          },
          "RefSeq": {
            "hgvs": "NP_001104262.1:p.Arg127="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 593,
          "referenceAllele": "C",
          "start": 592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "ENST00000303391.10:c.343C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000301948.6:p.Arg115="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255311"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 669,
          "referenceAllele": "C",
          "start": 668
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "ENST00000369957.5:c.*397C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000358973.4:n.*397C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267791"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 403,
          "referenceAllele": "C",
          "start": 402
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "ENST00000407218.5:c.379C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384865.2:p.Arg127="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280863"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 478,
          "referenceAllele": "C",
          "start": 477
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "ENST00000453960.6:c.379C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000395535.2:p.Arg127="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS302351"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2691,
          "referenceAllele": "C",
          "start": 2690
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "ENST00000486506.5:n.2691C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS325304"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 427,
          "referenceAllele": "C",
          "start": 426
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "ENST00000611468.1:c.331C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479736.1:p.Arg111="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS400858"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 569,
          "referenceAllele": "C",
          "start": 568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "ENST00000619732.4:c.343C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480973.1:p.Arg115="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404497"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 427,
          "referenceAllele": "C",
          "start": 426
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "ENST00000622433.4:c.331C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000484470.1:p.Arg111="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405724"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 575,
          "referenceAllele": "C",
          "start": 574
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "ENST00000628176.2:c.343C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486978.1:p.Arg115="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407005"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 445,
          "referenceAllele": "C",
          "start": 444
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_001110792.1:c.379C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001104262.1:p.Arg127="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011171"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 737,
          "referenceAllele": "C",
          "start": 736
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_001316337.1:c.64C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001303266.1:p.Arg22="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026582"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063192663",
      "coordinates": [
        {
          "allele": "C",
          "end": 569,
          "referenceAllele": "C",
          "start": 568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_004992.3:c.343C="
      ],
      "proteinEffect": {
        "hgvs": "NP_004983.1:p.Arg115="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030122"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 598,
          "referenceAllele": "C",
          "start": 597
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "XM_005274681.3:c.343C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005274738.1:p.Arg115="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068037"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 637,
          "referenceAllele": "C",
          "start": 636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "XM_005274682.3:c.64C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005274739.1:p.Arg22="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068038"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 855,
          "referenceAllele": "C",
          "start": 854
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "XM_005274683.3:c.64C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005274740.1:p.Arg22="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068039"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 461,
          "referenceAllele": "C",
          "start": 460
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "XM_011531166.1:c.64C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011529468.1:p.Arg22="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098206"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 429,
          "referenceAllele": "C",
          "start": 428
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "XM_006724819.3:c.-218C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006724882.1:n.-218C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541076"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 456,
          "referenceAllele": "C",
          "start": 455
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "XM_011531166.2:c.64C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011529468.1:p.Arg22="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550259"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 973,
          "referenceAllele": "C",
          "start": 972
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "XM_024452383.1:c.64C="
      ],
      "proteinEffect": {
        "hgvs": "XP_024308151.1:p.Arg22="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585878"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 514,
          "referenceAllele": "C",
          "start": 513
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "XM_024452384.1:c.64C="
      ],
      "proteinEffect": {
        "hgvs": "XP_024308152.1:p.Arg22="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585879"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 431,
          "referenceAllele": "C",
          "start": 430
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_001110792.2:c.379C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001104262.1:p.Arg127="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676663",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000453960.7:c.379C="
          },
          "RefSeq": {
            "hgvs": "NM_001110792.2:c.379C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000395535.2:p.Arg127="
          },
          "RefSeq": {
            "hgvs": "NP_001104262.1:p.Arg127="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 723,
          "referenceAllele": "C",
          "start": 722
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_001316337.2:c.64C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001303266.1:p.Arg22="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684168"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1018,
          "referenceAllele": "C",
          "start": 1017
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_001369391.2:c.64C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001356320.1:p.Arg22="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691616"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 667,
          "referenceAllele": "C",
          "start": 666
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_001369392.2:c.64C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001356321.1:p.Arg22="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691617"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 543,
          "referenceAllele": "C",
          "start": 542
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_001369393.2:c.64C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001356322.1:p.Arg22="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691618"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 474,
          "referenceAllele": "C",
          "start": 473
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_001369394.1:c.64C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001356323.1:p.Arg22="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691619"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 474,
          "referenceAllele": "C",
          "start": 473
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_001369394.2:c.64C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001356323.1:p.Arg22="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721143"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 667,
          "referenceAllele": "C",
          "start": 666
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_001386137.1:c.-218C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001373066.1:n.-218C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724415"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 555,
          "referenceAllele": "C",
          "start": 554
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_001386138.1:c.-218C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001373067.1:n.-218C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724416"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 431,
          "referenceAllele": "C",
          "start": 430
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_001386139.1:c.-218C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001373068.1:n.-218C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724417"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063192663",
      "coordinates": [
        {
          "allele": "C",
          "end": 555,
          "referenceAllele": "C",
          "start": 554
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_004992.4:c.343C="
      ],
      "proteinEffect": {
        "hgvs": "NP_004983.1:p.Arg115="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727571",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000303391.11:c.343C="
          },
          "RefSeq": {
            "hgvs": "NM_004992.4:c.343C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000301948.6:p.Arg115="
          },
          "RefSeq": {
            "hgvs": "NP_004983.1:p.Arg115="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}