{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10605009",
  "communityStandardTitle": [
    "NM_000266.4(NDP):c.325C>T (p.Arg109Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=269372[alleleid]",
        "alleleId": 269372,
        "preferredName": "NM_000266.4(NDP):c.325C>T (p.Arg109Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/285135",
        "RCV": [
          "RCV000397119"
        ],
        "variationId": 285135
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.43809122G>A?assembly=hg19",
        "id": "chrX:g.43809122G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.43949876G>A?assembly=hg38",
        "id": "chrX:g.43949876G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/886043023",
        "rs": 886043023
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-43949876-G-A?dataset=gnomad_r4",
        "id": "X-43949876-G-A",
        "variant": "X:43949876 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 43949876,
          "referenceAllele": "G",
          "start": 43949875
        }
      ],
      "hgvs": [
        "NC_000023.11:g.43949876G>A",
        "CM000685.2:g.43949876G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 43809122,
          "referenceAllele": "G",
          "start": 43809121
        }
      ],
      "hgvs": [
        "NC_000023.10:g.43809122G>A",
        "CM000685.1:g.43809122G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 43694066,
          "referenceAllele": "G",
          "start": 43694065
        }
      ],
      "hgvs": [
        "NC_000023.9:g.43694066G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 28800,
          "referenceAllele": "C",
          "start": 28799
        }
      ],
      "hgvs": [
        "NG_009832.1:g.28800C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001669"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 619,
          "referenceAllele": "C",
          "start": 618
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007678",
      "geneNCBI_id": 4693,
      "geneSymbol": "NDP",
      "hgvs": [
        "ENST00000642620.1:c.325C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495972.1:p.Arg109Ter",
        "hgvsWellDefined": "ENSP00000495972.1:p.Arg109_Ser133delinsCysSerGlyGlyMetArgLeuThrAlaThrTyrArgTyrIleLeuSerCysHisCysGluGluCysAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766842",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000642620.1:c.325C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000266.4:c.325C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000495972.1:p.Arg109Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000257.1:p.Arg109Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 719,
          "referenceAllele": "C",
          "start": 718
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007678",
      "geneNCBI_id": 4693,
      "geneSymbol": "NDP",
      "hgvs": [
        "ENST00000647044.1:c.325C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495811.1:p.Arg109Ter",
        "hgvsWellDefined": "ENSP00000495811.1:p.Arg109_Ser133delinsCysSerGlyGlyMetArgLeuThrAlaThrTyrArgTyrIleLeuSerCysHisCysGluGluCysAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769205"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 733,
          "referenceAllele": "C",
          "start": 732
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007678",
      "geneNCBI_id": 4693,
      "geneSymbol": "NDP",
      "hgvs": [
        "ENST00000378062.5:c.325C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367301.5:p.Arg109Ter",
        "hgvsWellDefined": "ENSP00000367301.5:p.Arg109_Ser133delinsCysSerGlyGlyMetArgLeuThrAlaThrTyrArgTyrIleLeuSerCysHisCysGluGluCysAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271869"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 369,
          "referenceAllele": "C",
          "start": 368
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007678",
      "geneNCBI_id": 4693,
      "geneSymbol": "NDP",
      "hgvs": [
        "ENST00000470584.1:n.369C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS312985"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645502616",
      "coordinates": [
        {
          "allele": "T",
          "end": 904,
          "referenceAllele": "C",
          "start": 903
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007678",
      "geneNCBI_id": 4693,
      "geneSymbol": "NDP",
      "hgvs": [
        "NM_000266.3:c.325C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000257.1:p.Arg109Ter",
        "hgvsWellDefined": "NP_000257.1:p.Arg109_Ser133delinsCysSerGlyGlyMetArgLeuThrAlaThrTyrArgTyrIleLeuSerCysHisCysGluGluCysAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006328"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 145,
          "referenceAllele": "G",
          "start": 144
        }
      ],
      "gene": "http://reg.genome.network/gene/GN040395",
      "geneNCBI_id": 100873919,
      "geneSymbol": "NDP-AS1",
      "hgvs": [
        "NR_046631.1:n.145G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS527279"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645502616",
      "coordinates": [
        {
          "allele": "T",
          "end": 619,
          "referenceAllele": "C",
          "start": 618
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007678",
      "geneNCBI_id": 4693,
      "geneSymbol": "NDP",
      "hgvs": [
        "NM_000266.4:c.325C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000257.1:p.Arg109Ter",
        "hgvsWellDefined": "NP_000257.1:p.Arg109_Ser133delinsCysSerGlyGlyMetArgLeuThrAlaThrTyrArgTyrIleLeuSerCysHisCysGluGluCysAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662376",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000642620.1:c.325C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000266.4:c.325C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000495972.1:p.Arg109Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000257.1:p.Arg109Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}