{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA413700783",
  "communityStandardTitle": [
    "NM_000489.6(ATRX):c.5368G>A (p.Ala1790Thr)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1778901[alleleid]",
        "alleleId": 1778901,
        "preferredName": "NM_000489.6(ATRX):c.5368G>A (p.Ala1790Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1718541",
        "RCV": [
          "RCV002299866"
        ],
        "variationId": 1718541
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.76874354C>T?assembly=hg19",
        "id": "chrX:g.76874354C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.77618886C>T?assembly=hg38",
        "id": "chrX:g.77618886C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2148259374",
        "rs": 2148259374
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 77618886,
          "referenceAllele": "C",
          "start": 77618885
        }
      ],
      "hgvs": [
        "NC_000023.11:g.77618886C>T",
        "CM000685.2:g.77618886C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 76874354,
          "referenceAllele": "C",
          "start": 76874353
        }
      ],
      "hgvs": [
        "NC_000023.10:g.76874354C>T",
        "CM000685.1:g.76874354C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 76761010,
          "referenceAllele": "C",
          "start": 76761009
        }
      ],
      "hgvs": [
        "NC_000023.9:g.76761010C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 172336,
          "referenceAllele": "G",
          "start": 172335
        }
      ],
      "hgvs": [
        "NG_008838.2:g.172336G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001233"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 172384,
          "referenceAllele": "G",
          "start": 172383
        }
      ],
      "hgvs": [
        "NG_008838.3:g.172384G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616114"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5583,
          "referenceAllele": "G",
          "start": 5582
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000373344.11:c.5368G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362441.4:p.Ala1790Thr",
        "hgvsWellDefined": "ENSP00000362441.4:p.Ala1790Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751211",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000373344.11:c.5368G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000489.6:c.5368G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000362441.4:p.Ala1790Thr"
          },
          "RefSeq": {
            "hgvs": "NP_000480.3:p.Ala1790Thr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1098,
          "referenceAllele": "G",
          "start": 1097
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000675732.1:c.466G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502598.1:p.Ala156Thr",
        "hgvsWellDefined": "ENSP00000502598.1:p.Ala156Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775511"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1103,
          "referenceAllele": "G",
          "start": 1102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000675908.1:n.1103G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775668"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5636,
          "referenceAllele": "G",
          "start": 5635
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000373344.9:c.5368G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362441.4:p.Ala1790Thr",
        "hgvsWellDefined": "ENSP00000362441.4:p.Ala1790Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269638"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5469,
          "referenceAllele": "G",
          "start": 5468
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000395603.7:c.5254G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378967.3:p.Ala1752Thr",
        "hgvsWellDefined": "ENSP00000378967.3:p.Ala1752Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276784"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 349,
          "referenceAllele": "G",
          "start": 348
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000400866.4:c.349G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000383663.3:p.Ala117Thr",
        "hgvsWellDefined": "ENSP00000383663.3:p.Ala117Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279132"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5706,
          "referenceAllele": "G",
          "start": 5705
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000480283.5:c.*4996G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480196.1:n.*4996G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS320467"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580120209",
      "coordinates": [
        {
          "allele": "A",
          "end": 5636,
          "referenceAllele": "G",
          "start": 5635
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_000489.4:c.5368G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000480.3:p.Ala1790Thr",
        "hgvsWellDefined": "NP_000480.3:p.Ala1790Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006543"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830249994",
      "coordinates": [
        {
          "allele": "A",
          "end": 5522,
          "referenceAllele": "G",
          "start": 5521
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_138270.3:c.5254G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_612114.2:p.Ala1752Thr",
        "hgvsWellDefined": "NP_612114.2:p.Ala1752Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040611"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5633,
          "referenceAllele": "G",
          "start": 5632
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262153.3:c.5365G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262210.2:p.Ala1789Thr",
        "hgvsWellDefined": "XP_005262210.2:p.Ala1789Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063345"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5549,
          "referenceAllele": "G",
          "start": 5548
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262154.3:c.5281G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262211.2:p.Ala1761Thr",
        "hgvsWellDefined": "XP_005262211.2:p.Ala1761Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063346"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5737,
          "referenceAllele": "G",
          "start": 5736
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262155.3:c.5251G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262212.2:p.Ala1751Thr",
        "hgvsWellDefined": "XP_005262212.2:p.Ala1751Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063347"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5474,
          "referenceAllele": "G",
          "start": 5473
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262156.3:c.5203G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262213.2:p.Ala1735Thr",
        "hgvsWellDefined": "XP_005262213.2:p.Ala1735Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063348"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5432,
          "referenceAllele": "G",
          "start": 5431
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262157.3:c.5164G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262214.2:p.Ala1722Thr",
        "hgvsWellDefined": "XP_005262214.2:p.Ala1722Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063349"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5519,
          "referenceAllele": "G",
          "start": 5518
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_006724666.2:c.5251G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724729.1:p.Ala1751Thr",
        "hgvsWellDefined": "XP_006724729.1:p.Ala1751Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075648"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5357,
          "referenceAllele": "G",
          "start": 5356
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_006724667.2:c.5089G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724730.1:p.Ala1697Thr",
        "hgvsWellDefined": "XP_006724730.1:p.Ala1697Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075649"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5636,
          "referenceAllele": "G",
          "start": 5635
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_006724668.2:c.5368G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724731.1:p.Ala1790Thr",
        "hgvsWellDefined": "XP_006724731.1:p.Ala1790Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075650"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5636,
          "referenceAllele": "G",
          "start": 5635
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XR_938400.1:n.5636G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS133098"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580120209",
      "coordinates": [
        {
          "allele": "A",
          "end": 5583,
          "referenceAllele": "G",
          "start": 5582
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_000489.5:c.5368G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000480.3:p.Ala1790Thr",
        "hgvsWellDefined": "NP_000480.3:p.Ala1790Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510800"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5580,
          "referenceAllele": "G",
          "start": 5579
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262153.5:c.5365G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262210.2:p.Ala1789Thr",
        "hgvsWellDefined": "XP_005262210.2:p.Ala1789Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535419"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5506,
          "referenceAllele": "G",
          "start": 5505
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262154.5:c.5281G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262211.2:p.Ala1761Thr",
        "hgvsWellDefined": "XP_005262211.2:p.Ala1761Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535420"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5737,
          "referenceAllele": "G",
          "start": 5736
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262155.4:c.5251G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262212.2:p.Ala1751Thr",
        "hgvsWellDefined": "XP_005262212.2:p.Ala1751Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535421"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5489,
          "referenceAllele": "G",
          "start": 5488
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262156.4:c.5203G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262213.2:p.Ala1735Thr",
        "hgvsWellDefined": "XP_005262213.2:p.Ala1735Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535422"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5389,
          "referenceAllele": "G",
          "start": 5388
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262157.5:c.5164G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262214.2:p.Ala1722Thr",
        "hgvsWellDefined": "XP_005262214.2:p.Ala1722Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535423"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5476,
          "referenceAllele": "G",
          "start": 5475
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_006724666.4:c.5251G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724729.1:p.Ala1751Thr",
        "hgvsWellDefined": "XP_006724729.1:p.Ala1751Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541034"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5375,
          "referenceAllele": "G",
          "start": 5374
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_006724667.3:c.5089G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724730.1:p.Ala1697Thr",
        "hgvsWellDefined": "XP_006724730.1:p.Ala1697Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541035"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5593,
          "referenceAllele": "G",
          "start": 5592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_006724668.3:c.5368G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724731.1:p.Ala1790Thr",
        "hgvsWellDefined": "XP_006724731.1:p.Ala1790Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541036"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5503,
          "referenceAllele": "G",
          "start": 5502
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029601.2:c.5278G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885090.1:p.Ala1760Thr",
        "hgvsWellDefined": "XP_016885090.1:p.Ala1760Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579117"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5717,
          "referenceAllele": "G",
          "start": 5716
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029602.1:c.5248G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885091.1:p.Ala1750Thr",
        "hgvsWellDefined": "XP_016885091.1:p.Ala1750Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579118"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5486,
          "referenceAllele": "G",
          "start": 5485
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029603.1:c.5200G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885092.1:p.Ala1734Thr",
        "hgvsWellDefined": "XP_016885092.1:p.Ala1734Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579119"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5392,
          "referenceAllele": "G",
          "start": 5391
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029604.2:c.5167G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885093.1:p.Ala1723Thr",
        "hgvsWellDefined": "XP_016885093.1:p.Ala1723Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579120"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5650,
          "referenceAllele": "G",
          "start": 5649
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029605.1:c.5164G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885094.1:p.Ala1722Thr",
        "hgvsWellDefined": "XP_016885094.1:p.Ala1722Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579121"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5610,
          "referenceAllele": "G",
          "start": 5609
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029606.2:c.5137G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885095.1:p.Ala1713Thr",
        "hgvsWellDefined": "XP_016885095.1:p.Ala1713Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579122"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5603,
          "referenceAllele": "G",
          "start": 5602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029607.2:c.5134G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885096.1:p.Ala1712Thr",
        "hgvsWellDefined": "XP_016885096.1:p.Ala1712Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579123"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5294,
          "referenceAllele": "G",
          "start": 5293
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029608.2:c.5086G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885097.1:p.Ala1696Thr",
        "hgvsWellDefined": "XP_016885097.1:p.Ala1696Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579124"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5536,
          "referenceAllele": "G",
          "start": 5535
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029609.1:c.5050G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885098.1:p.Ala1684Thr",
        "hgvsWellDefined": "XP_016885098.1:p.Ala1684Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579125"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5533,
          "referenceAllele": "G",
          "start": 5532
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029610.1:c.5047G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885099.1:p.Ala1683Thr",
        "hgvsWellDefined": "XP_016885099.1:p.Ala1683Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579126"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5288,
          "referenceAllele": "G",
          "start": 5287
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029611.1:c.5002G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885100.1:p.Ala1668Thr",
        "hgvsWellDefined": "XP_016885100.1:p.Ala1668Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579127"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5593,
          "referenceAllele": "G",
          "start": 5592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XR_001755700.2:n.5593G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS601333"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830249994",
      "coordinates": [
        {
          "allele": "A",
          "end": 5469,
          "referenceAllele": "G",
          "start": 5468
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_138270.4:c.5254G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_612114.2:p.Ala1752Thr",
        "hgvsWellDefined": "NP_612114.2:p.Ala1752Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699696"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580120209",
      "coordinates": [
        {
          "allele": "A",
          "end": 5583,
          "referenceAllele": "G",
          "start": 5582
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_000489.6:c.5368G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000480.3:p.Ala1790Thr",
        "hgvsWellDefined": "NP_000480.3:p.Ala1790Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710838",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000373344.11:c.5368G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000489.6:c.5368G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000362441.4:p.Ala1790Thr"
          },
          "RefSeq": {
            "hgvs": "NP_000480.3:p.Ala1790Thr"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830249994",
      "coordinates": [
        {
          "allele": "A",
          "end": 5469,
          "referenceAllele": "G",
          "start": 5468
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_138270.5:c.5254G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_612114.2:p.Ala1752Thr",
        "hgvsWellDefined": "NP_612114.2:p.Ala1752Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729130"
    }
  ],
  "type": "nucleotide"
}