{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA256028",
  "communityStandardTitle": [
    "NM_000489.6(ATRX):c.6250T>C (p.Tyr2084His)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=26765[alleleid]",
        "alleleId": 26765,
        "preferredName": "NM_000489.6(ATRX):c.6250T>C (p.Tyr2084His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/11726",
        "RCV": [
          "RCV000012492"
        ],
        "variationId": 11726
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.76829791A>G?assembly=hg19",
        "id": "chrX:g.76829791A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.77574326A>G?assembly=hg38",
        "id": "chrX:g.77574326A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/122445097",
        "rs": 122445097
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 77574326,
          "referenceAllele": "A",
          "start": 77574325
        }
      ],
      "hgvs": [
        "NC_000023.11:g.77574326A>G",
        "CM000685.2:g.77574326A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 76829791,
          "referenceAllele": "A",
          "start": 76829790
        }
      ],
      "hgvs": [
        "NC_000023.10:g.76829791A>G",
        "CM000685.1:g.76829791A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 76716447,
          "referenceAllele": "A",
          "start": 76716446
        }
      ],
      "hgvs": [
        "NC_000023.9:g.76716447A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 216896,
          "referenceAllele": "T",
          "start": 216895
        }
      ],
      "hgvs": [
        "NG_008838.2:g.216896T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001233"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 216944,
          "referenceAllele": "T",
          "start": 216943
        }
      ],
      "hgvs": [
        "NG_008838.3:g.216944T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616114"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6465,
          "referenceAllele": "T",
          "start": 6464
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000373344.11:c.6250T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362441.4:p.Tyr2084His",
        "hgvsWellDefined": "ENSP00000362441.4:p.Tyr2084His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751211",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000373344.11:c.6250T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000489.6:c.6250T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000362441.4:p.Tyr2084His"
          },
          "RefSeq": {
            "hgvs": "NP_000480.3:p.Tyr2084His"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 85,
          "referenceAllele": "T",
          "start": 84
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000636152.1:n.85T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS762911"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1980,
          "referenceAllele": "T",
          "start": 1979
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000675732.1:c.1348T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502598.1:p.Tyr450His",
        "hgvsWellDefined": "ENSP00000502598.1:p.Tyr450His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775511"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6518,
          "referenceAllele": "T",
          "start": 6517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000373344.9:c.6250T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362441.4:p.Tyr2084His",
        "hgvsWellDefined": "ENSP00000362441.4:p.Tyr2084His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269638"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6351,
          "referenceAllele": "T",
          "start": 6350
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000395603.7:c.6136T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378967.3:p.Tyr2046His",
        "hgvsWellDefined": "ENSP00000378967.3:p.Tyr2046His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276784"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6588,
          "referenceAllele": "T",
          "start": 6587
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000480283.5:c.*5878T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480196.1:n.*5878T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS320467"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 734,
          "referenceAllele": "T",
          "start": 733
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000623316.1:c.734T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS406046"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3320,
          "referenceAllele": "T",
          "start": 3319
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000623706.3:n.3320T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS406150"
    },
    {
      "@id": "http://reg.genome.network/allele/PA256030",
      "coordinates": [
        {
          "allele": "C",
          "end": 6518,
          "referenceAllele": "T",
          "start": 6517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_000489.4:c.6250T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000480.3:p.Tyr2084His",
        "hgvsWellDefined": "NP_000480.3:p.Tyr2084His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006543"
    },
    {
      "@id": "http://reg.genome.network/allele/PA256029",
      "coordinates": [
        {
          "allele": "C",
          "end": 6404,
          "referenceAllele": "T",
          "start": 6403
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_138270.3:c.6136T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_612114.2:p.Tyr2046His",
        "hgvsWellDefined": "NP_612114.2:p.Tyr2046His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040611"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6515,
          "referenceAllele": "T",
          "start": 6514
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262153.3:c.6247T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262210.2:p.Tyr2083His",
        "hgvsWellDefined": "XP_005262210.2:p.Tyr2083His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063345"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6431,
          "referenceAllele": "T",
          "start": 6430
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262154.3:c.6163T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262211.2:p.Tyr2055His",
        "hgvsWellDefined": "XP_005262211.2:p.Tyr2055His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063346"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6619,
          "referenceAllele": "T",
          "start": 6618
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262155.3:c.6133T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262212.2:p.Tyr2045His",
        "hgvsWellDefined": "XP_005262212.2:p.Tyr2045His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063347"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6356,
          "referenceAllele": "T",
          "start": 6355
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262156.3:c.6085T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262213.2:p.Tyr2029His",
        "hgvsWellDefined": "XP_005262213.2:p.Tyr2029His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063348"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6314,
          "referenceAllele": "T",
          "start": 6313
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262157.3:c.6046T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262214.2:p.Tyr2016His",
        "hgvsWellDefined": "XP_005262214.2:p.Tyr2016His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063349"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6401,
          "referenceAllele": "T",
          "start": 6400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_006724666.2:c.6133T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724729.1:p.Tyr2045His",
        "hgvsWellDefined": "XP_006724729.1:p.Tyr2045His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075648"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6239,
          "referenceAllele": "T",
          "start": 6238
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_006724667.2:c.5971T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724730.1:p.Tyr1991His",
        "hgvsWellDefined": "XP_006724730.1:p.Tyr1991His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075649"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6592,
          "referenceAllele": "T",
          "start": 6591
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XR_938400.1:n.6592T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS133098"
    },
    {
      "@id": "http://reg.genome.network/allele/PA256030",
      "coordinates": [
        {
          "allele": "C",
          "end": 6465,
          "referenceAllele": "T",
          "start": 6464
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_000489.5:c.6250T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000480.3:p.Tyr2084His",
        "hgvsWellDefined": "NP_000480.3:p.Tyr2084His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510800"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6462,
          "referenceAllele": "T",
          "start": 6461
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262153.5:c.6247T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262210.2:p.Tyr2083His",
        "hgvsWellDefined": "XP_005262210.2:p.Tyr2083His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535419"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6388,
          "referenceAllele": "T",
          "start": 6387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262154.5:c.6163T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262211.2:p.Tyr2055His",
        "hgvsWellDefined": "XP_005262211.2:p.Tyr2055His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535420"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6619,
          "referenceAllele": "T",
          "start": 6618
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262155.4:c.6133T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262212.2:p.Tyr2045His",
        "hgvsWellDefined": "XP_005262212.2:p.Tyr2045His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535421"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6371,
          "referenceAllele": "T",
          "start": 6370
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262156.4:c.6085T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262213.2:p.Tyr2029His",
        "hgvsWellDefined": "XP_005262213.2:p.Tyr2029His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535422"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6271,
          "referenceAllele": "T",
          "start": 6270
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262157.5:c.6046T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262214.2:p.Tyr2016His",
        "hgvsWellDefined": "XP_005262214.2:p.Tyr2016His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535423"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6358,
          "referenceAllele": "T",
          "start": 6357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_006724666.4:c.6133T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724729.1:p.Tyr2045His",
        "hgvsWellDefined": "XP_006724729.1:p.Tyr2045His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541034"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6257,
          "referenceAllele": "T",
          "start": 6256
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_006724667.3:c.5971T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724730.1:p.Tyr1991His",
        "hgvsWellDefined": "XP_006724730.1:p.Tyr1991His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541035"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6385,
          "referenceAllele": "T",
          "start": 6384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029601.2:c.6160T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885090.1:p.Tyr2054His",
        "hgvsWellDefined": "XP_016885090.1:p.Tyr2054His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579117"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6599,
          "referenceAllele": "T",
          "start": 6598
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029602.1:c.6130T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885091.1:p.Tyr2044His",
        "hgvsWellDefined": "XP_016885091.1:p.Tyr2044His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579118"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6368,
          "referenceAllele": "T",
          "start": 6367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029603.1:c.6082T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885092.1:p.Tyr2028His",
        "hgvsWellDefined": "XP_016885092.1:p.Tyr2028His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579119"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6274,
          "referenceAllele": "T",
          "start": 6273
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029604.2:c.6049T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885093.1:p.Tyr2017His",
        "hgvsWellDefined": "XP_016885093.1:p.Tyr2017His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579120"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6532,
          "referenceAllele": "T",
          "start": 6531
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029605.1:c.6046T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885094.1:p.Tyr2016His",
        "hgvsWellDefined": "XP_016885094.1:p.Tyr2016His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579121"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6492,
          "referenceAllele": "T",
          "start": 6491
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029606.2:c.6019T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885095.1:p.Tyr2007His",
        "hgvsWellDefined": "XP_016885095.1:p.Tyr2007His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579122"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6485,
          "referenceAllele": "T",
          "start": 6484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029607.2:c.6016T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885096.1:p.Tyr2006His",
        "hgvsWellDefined": "XP_016885096.1:p.Tyr2006His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579123"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6176,
          "referenceAllele": "T",
          "start": 6175
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029608.2:c.5968T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885097.1:p.Tyr1990His",
        "hgvsWellDefined": "XP_016885097.1:p.Tyr1990His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579124"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6418,
          "referenceAllele": "T",
          "start": 6417
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029609.1:c.5932T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885098.1:p.Tyr1978His",
        "hgvsWellDefined": "XP_016885098.1:p.Tyr1978His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579125"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6415,
          "referenceAllele": "T",
          "start": 6414
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029610.1:c.5929T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885099.1:p.Tyr1977His",
        "hgvsWellDefined": "XP_016885099.1:p.Tyr1977His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579126"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6170,
          "referenceAllele": "T",
          "start": 6169
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029611.1:c.5884T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885100.1:p.Tyr1962His",
        "hgvsWellDefined": "XP_016885100.1:p.Tyr1962His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579127"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6549,
          "referenceAllele": "T",
          "start": 6548
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XR_001755700.2:n.6549T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS601333"
    },
    {
      "@id": "http://reg.genome.network/allele/PA256029",
      "coordinates": [
        {
          "allele": "C",
          "end": 6351,
          "referenceAllele": "T",
          "start": 6350
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_138270.4:c.6136T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_612114.2:p.Tyr2046His",
        "hgvsWellDefined": "NP_612114.2:p.Tyr2046His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699696"
    },
    {
      "@id": "http://reg.genome.network/allele/PA256030",
      "coordinates": [
        {
          "allele": "C",
          "end": 6465,
          "referenceAllele": "T",
          "start": 6464
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_000489.6:c.6250T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000480.3:p.Tyr2084His",
        "hgvsWellDefined": "NP_000480.3:p.Tyr2084His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710838",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000373344.11:c.6250T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000489.6:c.6250T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000362441.4:p.Tyr2084His"
          },
          "RefSeq": {
            "hgvs": "NP_000480.3:p.Tyr2084His"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA256029",
      "coordinates": [
        {
          "allele": "C",
          "end": 6351,
          "referenceAllele": "T",
          "start": 6350
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_138270.5:c.6136T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_612114.2:p.Tyr2046His",
        "hgvsWellDefined": "NP_612114.2:p.Tyr2046His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729130"
    }
  ],
  "type": "nucleotide"
}