{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10360804",
  "communityStandardTitle": [
    "NM_000330.4(RS1):c.150G>T (p.Trp50Cys)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1159514[alleleid]",
        "alleleId": 1159514,
        "preferredName": "NM_000330.4(RS1):c.150G>T (p.Trp50Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1164535",
        "RCV": [
          "RCV001510578"
        ],
        "variationId": 1164535
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/X-18674807-C-A",
        "id": "X-18674807-C-A",
        "variant": "X:18674807 C / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.18674807C>A?assembly=hg19",
        "id": "chrX:g.18674807C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.18656687C>A?assembly=hg38",
        "id": "chrX:g.18656687C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/200866925",
        "rs": 200866925
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-18674807-C-A?dataset=gnomad_r2_1",
        "id": "X-18674807-C-A",
        "variant": "X:18674807 C / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-18656687-C-A?dataset=gnomad_r3",
        "id": "X-18656687-C-A",
        "variant": "X:18656687 C / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-18656687-C-A?dataset=gnomad_r4",
        "id": "X-18656687-C-A",
        "variant": "X:18656687 C / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 18656687,
          "referenceAllele": "C",
          "start": 18656686
        }
      ],
      "hgvs": [
        "NC_000023.11:g.18656687C>A",
        "CM000685.2:g.18656687C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 18674807,
          "referenceAllele": "C",
          "start": 18674806
        }
      ],
      "hgvs": [
        "NC_000023.10:g.18674807C>A",
        "CM000685.1:g.18674807C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 18584728,
          "referenceAllele": "C",
          "start": 18584727
        }
      ],
      "hgvs": [
        "NC_000023.9:g.18584728C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 25762,
          "referenceAllele": "G",
          "start": 25761
        }
      ],
      "hgvs": [
        "NG_008659.3:g.25762G>T",
        "LRG_702:g.25762G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001152"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 190,
          "referenceAllele": "G",
          "start": 189
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010457",
      "geneNCBI_id": 6247,
      "geneSymbol": "RS1",
      "hgvs": [
        "ENST00000379984.4:c.150G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369320.3:p.Trp50Cys",
        "hgvsWellDefined": "ENSP00000369320.3:p.Trp50Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752311",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000379984.4:c.150G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000330.4:c.150G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000369320.3:p.Trp50Cys"
          },
          "RefSeq": {
            "hgvs": "NP_000321.1:p.Trp50Cys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 191,
          "referenceAllele": "G",
          "start": 190
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010457",
      "geneNCBI_id": 6247,
      "geneSymbol": "RS1",
      "hgvs": [
        "ENST00000379984.3:c.150G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369320.3:p.Trp50Cys",
        "hgvsWellDefined": "ENSP00000369320.3:p.Trp50Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272727"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499231238",
      "coordinates": [
        {
          "allele": "T",
          "end": 185,
          "referenceAllele": "G",
          "start": 184
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010457",
      "geneNCBI_id": 6247,
      "geneSymbol": "RS1",
      "hgvs": [
        "NM_000330.3:c.150G>T",
        "LRG_702t1:c.150G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000321.1:p.Trp50Cys",
        "hgvsWellDefined": "NP_000321.1:p.Trp50Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006393"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3560,
          "endIntronDirection": "+",
          "endIntronOffset": 3051,
          "referenceAllele": "C",
          "start": 3560,
          "startIntronDirection": "+",
          "startIntronOffset": 3050
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011411",
      "geneNCBI_id": 6792,
      "geneSymbol": "CDKL5",
      "hgvs": [
        "XR_950484.1:n.3560+3051C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS143567"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499231238",
      "coordinates": [
        {
          "allele": "T",
          "end": 190,
          "referenceAllele": "G",
          "start": 189
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010457",
      "geneNCBI_id": 6247,
      "geneSymbol": "RS1",
      "hgvs": [
        "NM_000330.4:c.150G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000321.1:p.Trp50Cys",
        "hgvsWellDefined": "NP_000321.1:p.Trp50Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674793",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000379984.4:c.150G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000330.4:c.150G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000369320.3:p.Trp50Cys"
          },
          "RefSeq": {
            "hgvs": "NP_000321.1:p.Trp50Cys"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}