{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA412372954",
  "communityStandardTitle": [
    "NM_000330.4(RS1):c.216G>T (p.Glu72Asp)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.18665421C>A?assembly=hg19",
        "id": "chrX:g.18665421C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.18647301C>A?assembly=hg38",
        "id": "chrX:g.18647301C>A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 18647301,
          "referenceAllele": "C",
          "start": 18647300
        }
      ],
      "hgvs": [
        "NC_000023.11:g.18647301C>A",
        "CM000685.2:g.18647301C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 18665421,
          "referenceAllele": "C",
          "start": 18665420
        }
      ],
      "hgvs": [
        "NC_000023.10:g.18665421C>A",
        "CM000685.1:g.18665421C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 18575342,
          "referenceAllele": "C",
          "start": 18575341
        }
      ],
      "hgvs": [
        "NC_000023.9:g.18575342C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 226697,
          "referenceAllele": "C",
          "start": 226696
        }
      ],
      "hgvs": [
        "NG_008475.1:g.226697C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001114"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 35148,
          "referenceAllele": "G",
          "start": 35147
        }
      ],
      "hgvs": [
        "NG_008659.3:g.35148G>T",
        "LRG_702:g.35148G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001152"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 256,
          "referenceAllele": "G",
          "start": 255
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010457",
      "geneNCBI_id": 6247,
      "geneSymbol": "RS1",
      "hgvs": [
        "ENST00000379984.4:c.216G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369320.3:p.Glu72Asp",
        "hgvsWellDefined": "ENSP00000369320.3:p.Glu72Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752311",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000379984.4:c.216G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000330.4:c.216G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000369320.3:p.Glu72Asp"
          },
          "RefSeq": {
            "hgvs": "NP_000321.1:p.Glu72Asp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 257,
          "referenceAllele": "G",
          "start": 256
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010457",
      "geneNCBI_id": 6247,
      "geneSymbol": "RS1",
      "hgvs": [
        "ENST00000379984.3:c.216G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369320.3:p.Glu72Asp",
        "hgvsWellDefined": "ENSP00000369320.3:p.Glu72Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272727"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3082,
          "endIntronDirection": "+",
          "endIntronOffset": 1211,
          "referenceAllele": "C",
          "start": 3082,
          "startIntronDirection": "+",
          "startIntronOffset": 1210
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011411",
      "geneNCBI_id": 6792,
      "geneSymbol": "CDKL5",
      "hgvs": [
        "ENST00000379989.6:c.2797+1211C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369325.3:n.2797+1211C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272729"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3072,
          "endIntronDirection": "+",
          "endIntronOffset": 1211,
          "referenceAllele": "C",
          "start": 3072,
          "startIntronDirection": "+",
          "startIntronOffset": 1210
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011411",
      "geneNCBI_id": 6792,
      "geneSymbol": "CDKL5",
      "hgvs": [
        "ENST00000379996.7:c.2797+1211C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369332.3:n.2797+1211C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272733"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 707,
          "referenceAllele": "G",
          "start": 706
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010457",
      "geneNCBI_id": 6247,
      "geneSymbol": "RS1",
      "hgvs": [
        "ENST00000476595.1:n.707G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS317609"
    },
    {
      "@id": "http://reg.genome.network/allele/PA092665",
      "coordinates": [
        {
          "allele": "T",
          "end": 251,
          "referenceAllele": "G",
          "start": 250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010457",
      "geneNCBI_id": 6247,
      "geneSymbol": "RS1",
      "hgvs": [
        "NM_000330.3:c.216G>T",
        "LRG_702t1:c.216G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000321.1:p.Glu72Asp",
        "hgvsWellDefined": "NP_000321.1:p.Glu72Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006393"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3046,
          "endIntronDirection": "+",
          "endIntronOffset": 1211,
          "referenceAllele": "C",
          "start": 3046,
          "startIntronDirection": "+",
          "startIntronOffset": 1210
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011411",
      "geneNCBI_id": 6792,
      "geneSymbol": "CDKL5",
      "hgvs": [
        "NM_001037343.1:c.2797+1211C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001032420.1:n.2797+1211C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009269"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3050,
          "endIntronDirection": "+",
          "endIntronOffset": 1211,
          "referenceAllele": "C",
          "start": 3050,
          "startIntronDirection": "+",
          "startIntronOffset": 1210
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011411",
      "geneNCBI_id": 6792,
      "geneSymbol": "CDKL5",
      "hgvs": [
        "NM_003159.2:c.2797+1211C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003150.1:n.2797+1211C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028428"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3121,
          "endIntronDirection": "+",
          "endIntronOffset": 1211,
          "referenceAllele": "C",
          "start": 3121,
          "startIntronDirection": "+",
          "startIntronOffset": 1210
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011411",
      "geneNCBI_id": 6792,
      "geneSymbol": "CDKL5",
      "hgvs": [
        "XM_011545569.1:c.2869+1211C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543871.1:n.2869+1211C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112469"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3126,
          "endIntronDirection": "+",
          "endIntronOffset": 1211,
          "referenceAllele": "C",
          "start": 3126,
          "startIntronDirection": "+",
          "startIntronOffset": 1210
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011411",
      "geneNCBI_id": 6792,
      "geneSymbol": "CDKL5",
      "hgvs": [
        "XM_011545570.1:c.2788+1211C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543872.1:n.2788+1211C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112470"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3172,
          "endIntronDirection": "+",
          "endIntronOffset": 1211,
          "referenceAllele": "C",
          "start": 3172,
          "startIntronDirection": "+",
          "startIntronOffset": 1210
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011411",
      "geneNCBI_id": 6792,
      "geneSymbol": "CDKL5",
      "hgvs": [
        "XR_950484.1:n.3172+1211C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS143567"
    },
    {
      "@id": "http://reg.genome.network/allele/PA092665",
      "coordinates": [
        {
          "allele": "T",
          "end": 256,
          "referenceAllele": "G",
          "start": 255
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010457",
      "geneNCBI_id": 6247,
      "geneSymbol": "RS1",
      "hgvs": [
        "NM_000330.4:c.216G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000321.1:p.Glu72Asp",
        "hgvsWellDefined": "NP_000321.1:p.Glu72Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674793",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000379984.4:c.216G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000330.4:c.216G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000369320.3:p.Glu72Asp"
          },
          "RefSeq": {
            "hgvs": "NP_000321.1:p.Glu72Asp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3046,
          "endIntronDirection": "+",
          "endIntronOffset": 1211,
          "referenceAllele": "C",
          "start": 3046,
          "startIntronDirection": "+",
          "startIntronOffset": 1210
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011411",
      "geneNCBI_id": 6792,
      "geneSymbol": "CDKL5",
      "hgvs": [
        "NM_001037343.2:c.2797+1211C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001032420.1:n.2797+1211C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711572"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3047,
          "endIntronDirection": "+",
          "endIntronOffset": 1211,
          "referenceAllele": "C",
          "start": 3047,
          "startIntronDirection": "+",
          "startIntronOffset": 1210
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011411",
      "geneNCBI_id": 6792,
      "geneSymbol": "CDKL5",
      "hgvs": [
        "NM_003159.3:c.2797+1211C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003150.1:n.2797+1211C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727358"
    }
  ],
  "type": "nucleotide"
}