{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA256019",
  "communityStandardTitle": [
    "NM_000489.6(ATRX):c.4840T>C (p.Cys1614Arg)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=26761[alleleid]",
        "alleleId": 26761,
        "preferredName": "NM_000489.6(ATRX):c.4840T>C (p.Cys1614Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/11722",
        "RCV": [
          "RCV000012488"
        ],
        "variationId": 11722
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.76889170A>G?assembly=hg19",
        "id": "chrX:g.76889170A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.77633682A>G?assembly=hg38",
        "id": "chrX:g.77633682A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/122445094",
        "rs": 122445094
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 77633682,
          "referenceAllele": "A",
          "start": 77633681
        }
      ],
      "hgvs": [
        "NC_000023.11:g.77633682A>G",
        "CM000685.2:g.77633682A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 76889170,
          "referenceAllele": "A",
          "start": 76889169
        }
      ],
      "hgvs": [
        "NC_000023.10:g.76889170A>G",
        "CM000685.1:g.76889170A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 76775826,
          "referenceAllele": "A",
          "start": 76775825
        }
      ],
      "hgvs": [
        "NC_000023.9:g.76775826A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 157540,
          "referenceAllele": "T",
          "start": 157539
        }
      ],
      "hgvs": [
        "NG_008838.2:g.157540T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001233"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 157588,
          "referenceAllele": "T",
          "start": 157587
        }
      ],
      "hgvs": [
        "NG_008838.3:g.157588T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616114"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5055,
          "referenceAllele": "T",
          "start": 5054
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000373344.11:c.4840T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362441.4:p.Cys1614Arg",
        "hgvsWellDefined": "ENSP00000362441.4:p.Cys1614Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751211",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000373344.11:c.4840T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000489.6:c.4840T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000362441.4:p.Cys1614Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000480.3:p.Cys1614Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 570,
          "referenceAllele": "T",
          "start": 569
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000675732.1:c.-63T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502598.1:n.-63T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775511"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 575,
          "referenceAllele": "T",
          "start": 574
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000675908.1:n.575T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775668"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5108,
          "referenceAllele": "T",
          "start": 5107
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000373344.9:c.4840T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362441.4:p.Cys1614Arg",
        "hgvsWellDefined": "ENSP00000362441.4:p.Cys1614Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269638"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4941,
          "referenceAllele": "T",
          "start": 4940
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000395603.7:c.4726T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378967.3:p.Cys1576Arg",
        "hgvsWellDefined": "ENSP00000378967.3:p.Cys1576Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276784"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5178,
          "referenceAllele": "T",
          "start": 5177
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000480283.5:c.*4468T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480196.1:n.*4468T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS320467"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 577,
          "referenceAllele": "T",
          "start": 576
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000623242.3:c.577T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS406030"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 184,
          "referenceAllele": "T",
          "start": 183
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000624403.1:n.184T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS406320"
    },
    {
      "@id": "http://reg.genome.network/allele/PA256021",
      "coordinates": [
        {
          "allele": "C",
          "end": 5108,
          "referenceAllele": "T",
          "start": 5107
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_000489.4:c.4840T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000480.3:p.Cys1614Arg",
        "hgvsWellDefined": "NP_000480.3:p.Cys1614Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006543"
    },
    {
      "@id": "http://reg.genome.network/allele/PA256020",
      "coordinates": [
        {
          "allele": "C",
          "end": 4994,
          "referenceAllele": "T",
          "start": 4993
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_138270.3:c.4726T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_612114.2:p.Cys1576Arg",
        "hgvsWellDefined": "NP_612114.2:p.Cys1576Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040611"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5105,
          "referenceAllele": "T",
          "start": 5104
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262153.3:c.4837T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262210.2:p.Cys1613Arg",
        "hgvsWellDefined": "XP_005262210.2:p.Cys1613Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063345"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5021,
          "referenceAllele": "T",
          "start": 5020
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262154.3:c.4753T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262211.2:p.Cys1585Arg",
        "hgvsWellDefined": "XP_005262211.2:p.Cys1585Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063346"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5209,
          "referenceAllele": "T",
          "start": 5208
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262155.3:c.4723T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262212.2:p.Cys1575Arg",
        "hgvsWellDefined": "XP_005262212.2:p.Cys1575Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063347"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4946,
          "referenceAllele": "T",
          "start": 4945
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262156.3:c.4675T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262213.2:p.Cys1559Arg",
        "hgvsWellDefined": "XP_005262213.2:p.Cys1559Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063348"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4904,
          "referenceAllele": "T",
          "start": 4903
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262157.3:c.4636T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262214.2:p.Cys1546Arg",
        "hgvsWellDefined": "XP_005262214.2:p.Cys1546Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063349"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4991,
          "referenceAllele": "T",
          "start": 4990
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_006724666.2:c.4723T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724729.1:p.Cys1575Arg",
        "hgvsWellDefined": "XP_006724729.1:p.Cys1575Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075648"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4829,
          "referenceAllele": "T",
          "start": 4828
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_006724667.2:c.4561T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724730.1:p.Cys1521Arg",
        "hgvsWellDefined": "XP_006724730.1:p.Cys1521Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075649"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5108,
          "referenceAllele": "T",
          "start": 5107
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_006724668.2:c.4840T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724731.1:p.Cys1614Arg",
        "hgvsWellDefined": "XP_006724731.1:p.Cys1614Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075650"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5108,
          "referenceAllele": "T",
          "start": 5107
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XR_938400.1:n.5108T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS133098"
    },
    {
      "@id": "http://reg.genome.network/allele/PA256021",
      "coordinates": [
        {
          "allele": "C",
          "end": 5055,
          "referenceAllele": "T",
          "start": 5054
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_000489.5:c.4840T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000480.3:p.Cys1614Arg",
        "hgvsWellDefined": "NP_000480.3:p.Cys1614Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510800"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5052,
          "referenceAllele": "T",
          "start": 5051
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262153.5:c.4837T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262210.2:p.Cys1613Arg",
        "hgvsWellDefined": "XP_005262210.2:p.Cys1613Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535419"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4978,
          "referenceAllele": "T",
          "start": 4977
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262154.5:c.4753T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262211.2:p.Cys1585Arg",
        "hgvsWellDefined": "XP_005262211.2:p.Cys1585Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535420"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5209,
          "referenceAllele": "T",
          "start": 5208
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262155.4:c.4723T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262212.2:p.Cys1575Arg",
        "hgvsWellDefined": "XP_005262212.2:p.Cys1575Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535421"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4961,
          "referenceAllele": "T",
          "start": 4960
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262156.4:c.4675T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262213.2:p.Cys1559Arg",
        "hgvsWellDefined": "XP_005262213.2:p.Cys1559Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535422"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4861,
          "referenceAllele": "T",
          "start": 4860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262157.5:c.4636T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262214.2:p.Cys1546Arg",
        "hgvsWellDefined": "XP_005262214.2:p.Cys1546Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535423"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4948,
          "referenceAllele": "T",
          "start": 4947
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_006724666.4:c.4723T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724729.1:p.Cys1575Arg",
        "hgvsWellDefined": "XP_006724729.1:p.Cys1575Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541034"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4847,
          "referenceAllele": "T",
          "start": 4846
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_006724667.3:c.4561T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724730.1:p.Cys1521Arg",
        "hgvsWellDefined": "XP_006724730.1:p.Cys1521Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541035"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5065,
          "referenceAllele": "T",
          "start": 5064
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_006724668.3:c.4840T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724731.1:p.Cys1614Arg",
        "hgvsWellDefined": "XP_006724731.1:p.Cys1614Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541036"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4975,
          "referenceAllele": "T",
          "start": 4974
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029601.2:c.4750T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885090.1:p.Cys1584Arg",
        "hgvsWellDefined": "XP_016885090.1:p.Cys1584Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579117"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5189,
          "referenceAllele": "T",
          "start": 5188
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029602.1:c.4720T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885091.1:p.Cys1574Arg",
        "hgvsWellDefined": "XP_016885091.1:p.Cys1574Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579118"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4958,
          "referenceAllele": "T",
          "start": 4957
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029603.1:c.4672T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885092.1:p.Cys1558Arg",
        "hgvsWellDefined": "XP_016885092.1:p.Cys1558Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579119"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4864,
          "referenceAllele": "T",
          "start": 4863
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029604.2:c.4639T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885093.1:p.Cys1547Arg",
        "hgvsWellDefined": "XP_016885093.1:p.Cys1547Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579120"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5122,
          "referenceAllele": "T",
          "start": 5121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029605.1:c.4636T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885094.1:p.Cys1546Arg",
        "hgvsWellDefined": "XP_016885094.1:p.Cys1546Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579121"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5082,
          "referenceAllele": "T",
          "start": 5081
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029606.2:c.4609T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885095.1:p.Cys1537Arg",
        "hgvsWellDefined": "XP_016885095.1:p.Cys1537Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579122"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5075,
          "referenceAllele": "T",
          "start": 5074
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029607.2:c.4606T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885096.1:p.Cys1536Arg",
        "hgvsWellDefined": "XP_016885096.1:p.Cys1536Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579123"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4766,
          "referenceAllele": "T",
          "start": 4765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029608.2:c.4558T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885097.1:p.Cys1520Arg",
        "hgvsWellDefined": "XP_016885097.1:p.Cys1520Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579124"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5008,
          "referenceAllele": "T",
          "start": 5007
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029609.1:c.4522T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885098.1:p.Cys1508Arg",
        "hgvsWellDefined": "XP_016885098.1:p.Cys1508Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579125"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5005,
          "referenceAllele": "T",
          "start": 5004
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029610.1:c.4519T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885099.1:p.Cys1507Arg",
        "hgvsWellDefined": "XP_016885099.1:p.Cys1507Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579126"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4760,
          "referenceAllele": "T",
          "start": 4759
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029611.1:c.4474T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885100.1:p.Cys1492Arg",
        "hgvsWellDefined": "XP_016885100.1:p.Cys1492Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579127"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5065,
          "referenceAllele": "T",
          "start": 5064
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XR_001755700.2:n.5065T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS601333"
    },
    {
      "@id": "http://reg.genome.network/allele/PA256020",
      "coordinates": [
        {
          "allele": "C",
          "end": 4941,
          "referenceAllele": "T",
          "start": 4940
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_138270.4:c.4726T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_612114.2:p.Cys1576Arg",
        "hgvsWellDefined": "NP_612114.2:p.Cys1576Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699696"
    },
    {
      "@id": "http://reg.genome.network/allele/PA256021",
      "coordinates": [
        {
          "allele": "C",
          "end": 5055,
          "referenceAllele": "T",
          "start": 5054
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_000489.6:c.4840T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000480.3:p.Cys1614Arg",
        "hgvsWellDefined": "NP_000480.3:p.Cys1614Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710838",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000373344.11:c.4840T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000489.6:c.4840T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000362441.4:p.Cys1614Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000480.3:p.Cys1614Arg"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA256020",
      "coordinates": [
        {
          "allele": "C",
          "end": 4941,
          "referenceAllele": "T",
          "start": 4940
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_138270.5:c.4726T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_612114.2:p.Cys1576Arg",
        "hgvsWellDefined": "NP_612114.2:p.Cys1576Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729130"
    }
  ],
  "type": "nucleotide"
}