{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA255469",
  "communityStandardTitle": [
    "NM_000266.4(NDP):c.131A>G (p.Tyr44Cys)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=612933",
        "active": true,
        "id": "COSM612933"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=25721[alleleid]",
        "alleleId": 25721,
        "preferredName": "NM_000266.4(NDP):c.131A>G (p.Tyr44Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/10682",
        "RCV": [
          "RCV000011428",
          "RCV001857330"
        ],
        "variationId": 10682
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.43817761T>C?assembly=hg19",
        "id": "chrX:g.43817761T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.43958515T>C?assembly=hg38",
        "id": "chrX:g.43958515T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/104894870",
        "rs": 104894870
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 43958515,
          "referenceAllele": "T",
          "start": 43958514
        }
      ],
      "hgvs": [
        "NC_000023.11:g.43958515T>C",
        "CM000685.2:g.43958515T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 43817761,
          "referenceAllele": "T",
          "start": 43817760
        }
      ],
      "hgvs": [
        "NC_000023.10:g.43817761T>C",
        "CM000685.1:g.43817761T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 43702705,
          "referenceAllele": "T",
          "start": 43702704
        }
      ],
      "hgvs": [
        "NC_000023.9:g.43702705T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 20161,
          "referenceAllele": "A",
          "start": 20160
        }
      ],
      "hgvs": [
        "NG_009832.1:g.20161A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001669"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 425,
          "referenceAllele": "A",
          "start": 424
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007678",
      "geneNCBI_id": 4693,
      "geneSymbol": "NDP",
      "hgvs": [
        "ENST00000642620.1:c.131A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495972.1:p.Tyr44Cys",
        "hgvsWellDefined": "ENSP00000495972.1:p.Tyr44Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766842",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000642620.1:c.131A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000266.4:c.131A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000495972.1:p.Tyr44Cys"
          },
          "RefSeq": {
            "hgvs": "NP_000257.1:p.Tyr44Cys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 525,
          "referenceAllele": "A",
          "start": 524
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007678",
      "geneNCBI_id": 4693,
      "geneSymbol": "NDP",
      "hgvs": [
        "ENST00000647044.1:c.131A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495811.1:p.Tyr44Cys",
        "hgvsWellDefined": "ENSP00000495811.1:p.Tyr44Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769205"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 539,
          "referenceAllele": "A",
          "start": 538
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007678",
      "geneNCBI_id": 4693,
      "geneSymbol": "NDP",
      "hgvs": [
        "ENST00000378062.5:c.131A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367301.5:p.Tyr44Cys",
        "hgvsWellDefined": "ENSP00000367301.5:p.Tyr44Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271869"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 218,
          "endIntronDirection": "+",
          "endIntronOffset": 203,
          "referenceAllele": "A",
          "start": 218,
          "startIntronDirection": "+",
          "startIntronOffset": 202
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007678",
      "geneNCBI_id": 4693,
      "geneSymbol": "NDP",
      "hgvs": [
        "ENST00000470584.1:n.218+203A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS312985"
    },
    {
      "@id": "http://reg.genome.network/allele/PA101683",
      "coordinates": [
        {
          "allele": "G",
          "end": 710,
          "referenceAllele": "A",
          "start": 709
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007678",
      "geneNCBI_id": 4693,
      "geneSymbol": "NDP",
      "hgvs": [
        "NM_000266.3:c.131A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000257.1:p.Tyr44Cys",
        "hgvsWellDefined": "NP_000257.1:p.Tyr44Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006328"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 466,
          "endIntronDirection": "-",
          "endIntronOffset": 2269,
          "referenceAllele": "T",
          "start": 466,
          "startIntronDirection": "-",
          "startIntronOffset": 2270
        }
      ],
      "gene": "http://reg.genome.network/gene/GN040395",
      "geneNCBI_id": 100873919,
      "geneSymbol": "NDP-AS1",
      "hgvs": [
        "NR_046631.1:n.467-2270T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS527279"
    },
    {
      "@id": "http://reg.genome.network/allele/PA101683",
      "coordinates": [
        {
          "allele": "G",
          "end": 425,
          "referenceAllele": "A",
          "start": 424
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007678",
      "geneNCBI_id": 4693,
      "geneSymbol": "NDP",
      "hgvs": [
        "NM_000266.4:c.131A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000257.1:p.Tyr44Cys",
        "hgvsWellDefined": "NP_000257.1:p.Tyr44Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662376",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000642620.1:c.131A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000266.4:c.131A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000495972.1:p.Tyr44Cys"
          },
          "RefSeq": {
            "hgvs": "NP_000257.1:p.Tyr44Cys"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}