{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA415301673",
  "communityStandardTitle": [
    "NM_001110792.2(MECP2):c.5C>A (p.Ala2Asp)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/ncv/overview?id=26858265",
        "active": true,
        "id": "COSN26858265"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.153363118G>T?assembly=hg19",
        "id": "chrX:g.153363118G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.154097661G>T?assembly=hg38",
        "id": "chrX:g.154097661G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/179363901",
        "rs": 179363901
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-154097661-G-T?dataset=gnomad_r4",
        "id": "X-154097661-G-T",
        "variant": "X:154097661 G / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 154097661,
          "referenceAllele": "G",
          "start": 154097660
        }
      ],
      "hgvs": [
        "NC_000023.11:g.154097661G>T",
        "CM000685.2:g.154097661G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 153363118,
          "referenceAllele": "G",
          "start": 153363117
        }
      ],
      "hgvs": [
        "NC_000023.10:g.153363118G>T",
        "CM000685.1:g.153363118G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 153016312,
          "referenceAllele": "G",
          "start": 153016311
        }
      ],
      "hgvs": [
        "NC_000023.9:g.153016312G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 44461,
          "referenceAllele": "C",
          "start": 44460
        }
      ],
      "hgvs": [
        "NG_007107.2:g.44461C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000484"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 44443,
          "referenceAllele": "C",
          "start": 44442
        }
      ],
      "hgvs": [
        "NG_007107.3:g.44443C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS733307"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 57,
          "referenceAllele": "C",
          "start": 56
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "ENST00000303391.11:c.-156C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000301948.6:n.-156C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745028",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000303391.11:c.-156C>A"
          },
          "RefSeq": {
            "hgvs": "NM_004992.4:c.-156C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000301948.6:n.-156C>A"
          },
          "RefSeq": {
            "hgvs": "NP_004983.1:n.-156C>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 57,
          "referenceAllele": "C",
          "start": 56
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "ENST00000453960.7:c.5C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000395535.2:p.Ala2Asp",
        "hgvsWellDefined": "ENSP00000395535.2:p.Ala2Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756448",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000453960.7:c.5C>A"
          },
          "RefSeq": {
            "hgvs": "NM_001110792.2:c.5C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000395535.2:p.Ala2Asp"
          },
          "RefSeq": {
            "hgvs": "NP_001104262.1:p.Ala2Asp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 95,
          "referenceAllele": "C",
          "start": 94
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "ENST00000303391.10:c.-156C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000301948.6:n.-156C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255311"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3,
          "referenceAllele": "C",
          "start": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "ENST00000369957.5:c.-156C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000358973.4:n.-156C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267791"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 29,
          "referenceAllele": "C",
          "start": 28
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "ENST00000407218.5:c.5C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384865.2:p.Ala2Asp",
        "hgvsWellDefined": "ENSP00000384865.2:p.Ala2Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280863"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 104,
          "referenceAllele": "C",
          "start": 103
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "ENST00000453960.6:c.5C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000395535.2:p.Ala2Asp",
        "hgvsWellDefined": "ENSP00000395535.2:p.Ala2Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS302351"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 71,
          "referenceAllele": "C",
          "start": 70
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "ENST00000619732.4:c.-156C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480973.1:n.-156C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404497"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 20,
          "referenceAllele": "C",
          "start": 19
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "ENST00000627864.1:n.20C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS406965"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 77,
          "referenceAllele": "C",
          "start": 76
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "ENST00000628176.2:c.-156C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486978.1:n.-156C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407005"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 305,
          "endIntronDirection": "+",
          "endIntronOffset": 7120,
          "referenceAllele": "C",
          "start": 305,
          "startIntronDirection": "+",
          "startIntronOffset": 7119
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "ENST00000631210.1:n.305+7120C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS407490"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063212109",
      "coordinates": [
        {
          "allele": "A",
          "end": 71,
          "referenceAllele": "C",
          "start": 70
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_001110792.1:c.5C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001104262.1:p.Ala2Asp",
        "hgvsWellDefined": "NP_001104262.1:p.Ala2Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011171"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 71,
          "referenceAllele": "C",
          "start": 70
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_001316337.1:c.-603C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001303266.1:n.-603C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026582"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 71,
          "referenceAllele": "C",
          "start": 70
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_004992.3:c.-156C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004983.1:n.-156C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030122"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 27,
          "referenceAllele": "C",
          "start": 26
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "XM_005274682.3:c.-547C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274739.1:n.-547C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068038"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063212109",
      "coordinates": [
        {
          "allele": "A",
          "end": 57,
          "referenceAllele": "C",
          "start": 56
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_001110792.2:c.5C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001104262.1:p.Ala2Asp",
        "hgvsWellDefined": "NP_001104262.1:p.Ala2Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676663",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000453960.7:c.5C>A"
          },
          "RefSeq": {
            "hgvs": "NM_001110792.2:c.5C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000395535.2:p.Ala2Asp"
          },
          "RefSeq": {
            "hgvs": "NP_001104262.1:p.Ala2Asp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 57,
          "referenceAllele": "C",
          "start": 56
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_001316337.2:c.-603C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001303266.1:n.-603C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684168"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 57,
          "referenceAllele": "C",
          "start": 56
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_001369391.2:c.-898C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356320.1:n.-898C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691616"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 57,
          "referenceAllele": "C",
          "start": 56
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_001369392.2:c.-547C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356321.1:n.-547C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691617"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 57,
          "referenceAllele": "C",
          "start": 56
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_001369393.2:c.-423C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356322.1:n.-423C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691618"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 57,
          "referenceAllele": "C",
          "start": 56
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_001386137.1:c.-828C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373066.1:n.-828C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724415"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 57,
          "referenceAllele": "C",
          "start": 56
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_001386138.1:c.-716C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373067.1:n.-716C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724416"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 57,
          "referenceAllele": "C",
          "start": 56
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_001386139.1:c.-592C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373068.1:n.-592C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724417"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 57,
          "referenceAllele": "C",
          "start": 56
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006990",
      "geneNCBI_id": 4204,
      "geneSymbol": "MECP2",
      "hgvs": [
        "NM_004992.4:c.-156C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004983.1:n.-156C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727571",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000303391.11:c.-156C>A"
          },
          "RefSeq": {
            "hgvs": "NM_004992.4:c.-156C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000301948.6:n.-156C>A"
          },
          "RefSeq": {
            "hgvs": "NP_004983.1:n.-156C>A"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}