{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA413701171",
  "communityStandardTitle": [
    "NM_000489.6(ATRX):c.6253C>T (p.Arg2085Cys)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4767393",
        "active": true,
        "id": "COSM4767393"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1170393[alleleid]",
        "alleleId": 1170393,
        "preferredName": "NM_000489.6(ATRX):c.6253C>T (p.Arg2085Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1180765",
        "RCV": [
          "RCV001557178",
          "RCV001814494",
          "RCV001824991"
        ],
        "variationId": 1180765
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.76829788G>A?assembly=hg19",
        "id": "chrX:g.76829788G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.77574323G>A?assembly=hg38",
        "id": "chrX:g.77574323G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2148019913",
        "rs": 2148019913
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 77574323,
          "referenceAllele": "G",
          "start": 77574322
        }
      ],
      "hgvs": [
        "NC_000023.11:g.77574323G>A",
        "CM000685.2:g.77574323G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 76829788,
          "referenceAllele": "G",
          "start": 76829787
        }
      ],
      "hgvs": [
        "NC_000023.10:g.76829788G>A",
        "CM000685.1:g.76829788G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 76716444,
          "referenceAllele": "G",
          "start": 76716443
        }
      ],
      "hgvs": [
        "NC_000023.9:g.76716444G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 216899,
          "referenceAllele": "C",
          "start": 216898
        }
      ],
      "hgvs": [
        "NG_008838.2:g.216899C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001233"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 216947,
          "referenceAllele": "C",
          "start": 216946
        }
      ],
      "hgvs": [
        "NG_008838.3:g.216947C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616114"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6468,
          "referenceAllele": "C",
          "start": 6467
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000373344.11:c.6253C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362441.4:p.Arg2085Cys",
        "hgvsWellDefined": "ENSP00000362441.4:p.Arg2085Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751211",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000373344.11:c.6253C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000489.6:c.6253C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000362441.4:p.Arg2085Cys"
          },
          "RefSeq": {
            "hgvs": "NP_000480.3:p.Arg2085Cys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 88,
          "referenceAllele": "C",
          "start": 87
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000636152.1:n.88C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS762911"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1983,
          "referenceAllele": "C",
          "start": 1982
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000675732.1:c.1351C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502598.1:p.Arg451Cys",
        "hgvsWellDefined": "ENSP00000502598.1:p.Arg451Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775511"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6521,
          "referenceAllele": "C",
          "start": 6520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000373344.9:c.6253C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362441.4:p.Arg2085Cys",
        "hgvsWellDefined": "ENSP00000362441.4:p.Arg2085Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269638"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6354,
          "referenceAllele": "C",
          "start": 6353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000395603.7:c.6139C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378967.3:p.Arg2047Cys",
        "hgvsWellDefined": "ENSP00000378967.3:p.Arg2047Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276784"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6591,
          "referenceAllele": "C",
          "start": 6590
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000480283.5:c.*5881C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480196.1:n.*5881C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS320467"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 737,
          "referenceAllele": "C",
          "start": 736
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000623316.1:c.737C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS406046"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3323,
          "referenceAllele": "C",
          "start": 3322
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000623706.3:n.3323C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS406150"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499232760",
      "coordinates": [
        {
          "allele": "T",
          "end": 6521,
          "referenceAllele": "C",
          "start": 6520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_000489.4:c.6253C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000480.3:p.Arg2085Cys",
        "hgvsWellDefined": "NP_000480.3:p.Arg2085Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006543"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830250141",
      "coordinates": [
        {
          "allele": "T",
          "end": 6407,
          "referenceAllele": "C",
          "start": 6406
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_138270.3:c.6139C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_612114.2:p.Arg2047Cys",
        "hgvsWellDefined": "NP_612114.2:p.Arg2047Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040611"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6518,
          "referenceAllele": "C",
          "start": 6517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262153.3:c.6250C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262210.2:p.Arg2084Cys",
        "hgvsWellDefined": "XP_005262210.2:p.Arg2084Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063345"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6434,
          "referenceAllele": "C",
          "start": 6433
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262154.3:c.6166C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262211.2:p.Arg2056Cys",
        "hgvsWellDefined": "XP_005262211.2:p.Arg2056Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063346"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6622,
          "referenceAllele": "C",
          "start": 6621
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262155.3:c.6136C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262212.2:p.Arg2046Cys",
        "hgvsWellDefined": "XP_005262212.2:p.Arg2046Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063347"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6359,
          "referenceAllele": "C",
          "start": 6358
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262156.3:c.6088C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262213.2:p.Arg2030Cys",
        "hgvsWellDefined": "XP_005262213.2:p.Arg2030Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063348"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6317,
          "referenceAllele": "C",
          "start": 6316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262157.3:c.6049C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262214.2:p.Arg2017Cys",
        "hgvsWellDefined": "XP_005262214.2:p.Arg2017Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063349"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6404,
          "referenceAllele": "C",
          "start": 6403
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_006724666.2:c.6136C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724729.1:p.Arg2046Cys",
        "hgvsWellDefined": "XP_006724729.1:p.Arg2046Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075648"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6242,
          "referenceAllele": "C",
          "start": 6241
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_006724667.2:c.5974C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724730.1:p.Arg1992Cys",
        "hgvsWellDefined": "XP_006724730.1:p.Arg1992Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075649"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6595,
          "referenceAllele": "C",
          "start": 6594
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XR_938400.1:n.6595C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS133098"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499232760",
      "coordinates": [
        {
          "allele": "T",
          "end": 6468,
          "referenceAllele": "C",
          "start": 6467
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_000489.5:c.6253C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000480.3:p.Arg2085Cys",
        "hgvsWellDefined": "NP_000480.3:p.Arg2085Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510800"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6465,
          "referenceAllele": "C",
          "start": 6464
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262153.5:c.6250C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262210.2:p.Arg2084Cys",
        "hgvsWellDefined": "XP_005262210.2:p.Arg2084Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535419"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6391,
          "referenceAllele": "C",
          "start": 6390
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262154.5:c.6166C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262211.2:p.Arg2056Cys",
        "hgvsWellDefined": "XP_005262211.2:p.Arg2056Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535420"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6622,
          "referenceAllele": "C",
          "start": 6621
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262155.4:c.6136C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262212.2:p.Arg2046Cys",
        "hgvsWellDefined": "XP_005262212.2:p.Arg2046Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535421"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6374,
          "referenceAllele": "C",
          "start": 6373
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262156.4:c.6088C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262213.2:p.Arg2030Cys",
        "hgvsWellDefined": "XP_005262213.2:p.Arg2030Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535422"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6274,
          "referenceAllele": "C",
          "start": 6273
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262157.5:c.6049C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262214.2:p.Arg2017Cys",
        "hgvsWellDefined": "XP_005262214.2:p.Arg2017Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535423"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6361,
          "referenceAllele": "C",
          "start": 6360
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_006724666.4:c.6136C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724729.1:p.Arg2046Cys",
        "hgvsWellDefined": "XP_006724729.1:p.Arg2046Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541034"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6260,
          "referenceAllele": "C",
          "start": 6259
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_006724667.3:c.5974C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724730.1:p.Arg1992Cys",
        "hgvsWellDefined": "XP_006724730.1:p.Arg1992Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541035"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6388,
          "referenceAllele": "C",
          "start": 6387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029601.2:c.6163C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885090.1:p.Arg2055Cys",
        "hgvsWellDefined": "XP_016885090.1:p.Arg2055Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579117"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6602,
          "referenceAllele": "C",
          "start": 6601
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029602.1:c.6133C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885091.1:p.Arg2045Cys",
        "hgvsWellDefined": "XP_016885091.1:p.Arg2045Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579118"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6371,
          "referenceAllele": "C",
          "start": 6370
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029603.1:c.6085C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885092.1:p.Arg2029Cys",
        "hgvsWellDefined": "XP_016885092.1:p.Arg2029Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579119"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6277,
          "referenceAllele": "C",
          "start": 6276
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029604.2:c.6052C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885093.1:p.Arg2018Cys",
        "hgvsWellDefined": "XP_016885093.1:p.Arg2018Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579120"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6535,
          "referenceAllele": "C",
          "start": 6534
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029605.1:c.6049C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885094.1:p.Arg2017Cys",
        "hgvsWellDefined": "XP_016885094.1:p.Arg2017Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579121"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6495,
          "referenceAllele": "C",
          "start": 6494
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029606.2:c.6022C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885095.1:p.Arg2008Cys",
        "hgvsWellDefined": "XP_016885095.1:p.Arg2008Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579122"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6488,
          "referenceAllele": "C",
          "start": 6487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029607.2:c.6019C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885096.1:p.Arg2007Cys",
        "hgvsWellDefined": "XP_016885096.1:p.Arg2007Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579123"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6179,
          "referenceAllele": "C",
          "start": 6178
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029608.2:c.5971C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885097.1:p.Arg1991Cys",
        "hgvsWellDefined": "XP_016885097.1:p.Arg1991Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579124"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6421,
          "referenceAllele": "C",
          "start": 6420
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029609.1:c.5935C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885098.1:p.Arg1979Cys",
        "hgvsWellDefined": "XP_016885098.1:p.Arg1979Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579125"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6418,
          "referenceAllele": "C",
          "start": 6417
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029610.1:c.5932C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885099.1:p.Arg1978Cys",
        "hgvsWellDefined": "XP_016885099.1:p.Arg1978Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579126"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6173,
          "referenceAllele": "C",
          "start": 6172
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029611.1:c.5887C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885100.1:p.Arg1963Cys",
        "hgvsWellDefined": "XP_016885100.1:p.Arg1963Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579127"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6552,
          "referenceAllele": "C",
          "start": 6551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XR_001755700.2:n.6552C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS601333"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830250141",
      "coordinates": [
        {
          "allele": "T",
          "end": 6354,
          "referenceAllele": "C",
          "start": 6353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_138270.4:c.6139C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_612114.2:p.Arg2047Cys",
        "hgvsWellDefined": "NP_612114.2:p.Arg2047Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699696"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499232760",
      "coordinates": [
        {
          "allele": "T",
          "end": 6468,
          "referenceAllele": "C",
          "start": 6467
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_000489.6:c.6253C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000480.3:p.Arg2085Cys",
        "hgvsWellDefined": "NP_000480.3:p.Arg2085Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710838",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000373344.11:c.6253C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000489.6:c.6253C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000362441.4:p.Arg2085Cys"
          },
          "RefSeq": {
            "hgvs": "NP_000480.3:p.Arg2085Cys"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830250141",
      "coordinates": [
        {
          "allele": "T",
          "end": 6354,
          "referenceAllele": "C",
          "start": 6353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_138270.5:c.6139C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_612114.2:p.Arg2047Cys",
        "hgvsWellDefined": "NP_612114.2:p.Arg2047Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729130"
    }
  ],
  "type": "nucleotide"
}