{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA226768",
  "communityStandardTitle": [
    "NM_000330.4(RS1):c.522+1G>A"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=104869[alleleid]",
        "alleleId": 104869,
        "preferredName": "NM_000330.4(RS1):c.522+1G>A"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/98979",
        "RCV": [
          "RCV000085320",
          "RCV000411037",
          "RCV001075780"
        ],
        "variationId": 98979
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.18662549C>T?assembly=hg19",
        "id": "chrX:g.18662549C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.18644429C>T?assembly=hg38",
        "id": "chrX:g.18644429C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/281865348",
        "rs": 281865348
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 18644429,
          "referenceAllele": "C",
          "start": 18644428
        }
      ],
      "hgvs": [
        "NC_000023.11:g.18644429C>T",
        "CM000685.2:g.18644429C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 18662549,
          "referenceAllele": "C",
          "start": 18662548
        }
      ],
      "hgvs": [
        "NC_000023.10:g.18662549C>T",
        "CM000685.1:g.18662549C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 18572470,
          "referenceAllele": "C",
          "start": 18572469
        }
      ],
      "hgvs": [
        "NC_000023.9:g.18572470C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 223825,
          "referenceAllele": "C",
          "start": 223824
        }
      ],
      "hgvs": [
        "NG_008475.1:g.223825C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001114"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 38020,
          "referenceAllele": "G",
          "start": 38019
        }
      ],
      "hgvs": [
        "NG_008659.3:g.38020G>A",
        "LRG_702:g.38020G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001152"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 562,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 562,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010457",
      "geneNCBI_id": 6247,
      "geneSymbol": "RS1",
      "hgvs": [
        "ENST00000379984.4:c.522+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369320.3:n.522+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752311",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000379984.4:c.522+1G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000330.4:c.522+1G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000369320.3:n.522+1G>A"
          },
          "RefSeq": {
            "hgvs": "NP_000321.1:n.522+1G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 563,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 563,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010457",
      "geneNCBI_id": 6247,
      "geneSymbol": "RS1",
      "hgvs": [
        "ENST00000379984.3:c.522+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369320.3:n.522+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272727"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2998,
          "endIntronDirection": "-",
          "endIntronOffset": 1577,
          "referenceAllele": "C",
          "start": 2998,
          "startIntronDirection": "-",
          "startIntronOffset": 1578
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011411",
      "geneNCBI_id": 6792,
      "geneSymbol": "CDKL5",
      "hgvs": [
        "ENST00000379989.6:c.2714-1578C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369325.3:n.2714-1578C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272729"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2988,
          "endIntronDirection": "-",
          "endIntronOffset": 1577,
          "referenceAllele": "C",
          "start": 2988,
          "startIntronDirection": "-",
          "startIntronOffset": 1578
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011411",
      "geneNCBI_id": 6792,
      "geneSymbol": "CDKL5",
      "hgvs": [
        "ENST00000379996.7:c.2714-1578C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369332.3:n.2714-1578C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272733"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1013,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1013,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010457",
      "geneNCBI_id": 6247,
      "geneSymbol": "RS1",
      "hgvs": [
        "ENST00000476595.1:n.1013+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS317609"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 557,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 557,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010457",
      "geneNCBI_id": 6247,
      "geneSymbol": "RS1",
      "hgvs": [
        "NM_000330.3:c.522+1G>A",
        "LRG_702t1:c.522+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000321.1:n.522+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006393"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2962,
          "endIntronDirection": "-",
          "endIntronOffset": 1577,
          "referenceAllele": "C",
          "start": 2962,
          "startIntronDirection": "-",
          "startIntronOffset": 1578
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011411",
      "geneNCBI_id": 6792,
      "geneSymbol": "CDKL5",
      "hgvs": [
        "NM_001037343.1:c.2714-1578C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001032420.1:n.2714-1578C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009269"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2966,
          "endIntronDirection": "-",
          "endIntronOffset": 1577,
          "referenceAllele": "C",
          "start": 2966,
          "startIntronDirection": "-",
          "startIntronOffset": 1578
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011411",
      "geneNCBI_id": 6792,
      "geneSymbol": "CDKL5",
      "hgvs": [
        "NM_003159.2:c.2714-1578C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003150.1:n.2714-1578C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028428"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3037,
          "endIntronDirection": "-",
          "endIntronOffset": 1577,
          "referenceAllele": "C",
          "start": 3037,
          "startIntronDirection": "-",
          "startIntronOffset": 1578
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011411",
      "geneNCBI_id": 6792,
      "geneSymbol": "CDKL5",
      "hgvs": [
        "XM_011545569.1:c.2786-1578C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543871.1:n.2786-1578C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112469"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3042,
          "endIntronDirection": "-",
          "endIntronOffset": 1577,
          "referenceAllele": "C",
          "start": 3042,
          "startIntronDirection": "-",
          "startIntronOffset": 1578
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011411",
      "geneNCBI_id": 6792,
      "geneSymbol": "CDKL5",
      "hgvs": [
        "XM_011545570.1:c.2705-1578C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543872.1:n.2705-1578C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112470"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3088,
          "endIntronDirection": "-",
          "endIntronOffset": 1577,
          "referenceAllele": "C",
          "start": 3088,
          "startIntronDirection": "-",
          "startIntronOffset": 1578
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011411",
      "geneNCBI_id": 6792,
      "geneSymbol": "CDKL5",
      "hgvs": [
        "XR_950484.1:n.3089-1578C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS143567"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 562,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 562,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010457",
      "geneNCBI_id": 6247,
      "geneSymbol": "RS1",
      "hgvs": [
        "NM_000330.4:c.522+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000321.1:n.522+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674793",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000379984.4:c.522+1G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000330.4:c.522+1G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000369320.3:n.522+1G>A"
          },
          "RefSeq": {
            "hgvs": "NP_000321.1:n.522+1G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2962,
          "endIntronDirection": "-",
          "endIntronOffset": 1577,
          "referenceAllele": "C",
          "start": 2962,
          "startIntronDirection": "-",
          "startIntronOffset": 1578
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011411",
      "geneNCBI_id": 6792,
      "geneSymbol": "CDKL5",
      "hgvs": [
        "NM_001037343.2:c.2714-1578C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001032420.1:n.2714-1578C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711572"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2963,
          "endIntronDirection": "-",
          "endIntronOffset": 1577,
          "referenceAllele": "C",
          "start": 2963,
          "startIntronDirection": "-",
          "startIntronOffset": 1578
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011411",
      "geneNCBI_id": 6792,
      "geneSymbol": "CDKL5",
      "hgvs": [
        "NM_003159.3:c.2714-1578C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003150.1:n.2714-1578C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727358"
    }
  ],
  "type": "nucleotide"
}