{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2426745280",
  "communityStandardTitle": [
    "NM_000266.4(NDP):c.268C= (p.Arg90=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057518793",
        "rs": 1057518793
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 43949933,
          "referenceAllele": "G",
          "start": 43949932
        }
      ],
      "hgvs": [
        "NC_000023.11:g.43949933G=",
        "CM000685.2:g.43949933G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 43809179,
          "referenceAllele": "G",
          "start": 43809178
        }
      ],
      "hgvs": [
        "NC_000023.10:g.43809179G=",
        "CM000685.1:g.43809179G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 43694123,
          "referenceAllele": "G",
          "start": 43694122
        }
      ],
      "hgvs": [
        "NC_000023.9:g.43694123G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 28743,
          "referenceAllele": "C",
          "start": 28742
        }
      ],
      "hgvs": [
        "NG_009832.1:g.28743C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001669"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 562,
          "referenceAllele": "C",
          "start": 561
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007678",
      "geneNCBI_id": 4693,
      "geneSymbol": "NDP",
      "hgvs": [
        "ENST00000642620.1:c.268C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495972.1:p.Arg90="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766842",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000642620.1:c.268C="
          },
          "RefSeq": {
            "hgvs": "NM_000266.4:c.268C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000495972.1:p.Arg90="
          },
          "RefSeq": {
            "hgvs": "NP_000257.1:p.Arg90="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 662,
          "referenceAllele": "C",
          "start": 661
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007678",
      "geneNCBI_id": 4693,
      "geneSymbol": "NDP",
      "hgvs": [
        "ENST00000647044.1:c.268C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495811.1:p.Arg90="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769205"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 676,
          "referenceAllele": "C",
          "start": 675
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007678",
      "geneNCBI_id": 4693,
      "geneSymbol": "NDP",
      "hgvs": [
        "ENST00000378062.5:c.268C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367301.5:p.Arg90="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271869"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 312,
          "referenceAllele": "C",
          "start": 311
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007678",
      "geneNCBI_id": 4693,
      "geneSymbol": "NDP",
      "hgvs": [
        "ENST00000470584.1:n.312C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS312985"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063194216",
      "coordinates": [
        {
          "allele": "C",
          "end": 847,
          "referenceAllele": "C",
          "start": 846
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007678",
      "geneNCBI_id": 4693,
      "geneSymbol": "NDP",
      "hgvs": [
        "NM_000266.3:c.268C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000257.1:p.Arg90="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006328"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 202,
          "referenceAllele": "G",
          "start": 201
        }
      ],
      "gene": "http://reg.genome.network/gene/GN040395",
      "geneNCBI_id": 100873919,
      "geneSymbol": "NDP-AS1",
      "hgvs": [
        "NR_046631.1:n.202G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS527279"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063194216",
      "coordinates": [
        {
          "allele": "C",
          "end": 562,
          "referenceAllele": "C",
          "start": 561
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007678",
      "geneNCBI_id": 4693,
      "geneSymbol": "NDP",
      "hgvs": [
        "NM_000266.4:c.268C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000257.1:p.Arg90="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662376",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000642620.1:c.268C="
          },
          "RefSeq": {
            "hgvs": "NM_000266.4:c.268C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000495972.1:p.Arg90="
          },
          "RefSeq": {
            "hgvs": "NP_000257.1:p.Arg90="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}