{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA413701423",
  "communityStandardTitle": [
    "NM_000489.6(ATRX):c.5222G>A (p.Arg1741Lys)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1185863[alleleid]",
        "alleleId": 1185863,
        "preferredName": "NM_000489.6(ATRX):c.5222G>A (p.Arg1741Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1193149",
        "RCV": [
          "RCV001555452",
          "RCV001824995",
          "RCV002032607"
        ],
        "variationId": 1193149
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.76875913C>T?assembly=hg19",
        "id": "chrX:g.76875913C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.77620445C>T?assembly=hg38",
        "id": "chrX:g.77620445C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1448764008",
        "rs": 1448764008
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-77620445-C-T?dataset=gnomad_r3",
        "id": "X-77620445-C-T",
        "variant": "X:77620445 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-77620445-C-T?dataset=gnomad_r4",
        "id": "X-77620445-C-T",
        "variant": "X:77620445 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 77620445,
          "referenceAllele": "C",
          "start": 77620444
        }
      ],
      "hgvs": [
        "NC_000023.11:g.77620445C>T",
        "CM000685.2:g.77620445C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 76875913,
          "referenceAllele": "C",
          "start": 76875912
        }
      ],
      "hgvs": [
        "NC_000023.10:g.76875913C>T",
        "CM000685.1:g.76875913C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 76762569,
          "referenceAllele": "C",
          "start": 76762568
        }
      ],
      "hgvs": [
        "NC_000023.9:g.76762569C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 170777,
          "referenceAllele": "G",
          "start": 170776
        }
      ],
      "hgvs": [
        "NG_008838.2:g.170777G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001233"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 170825,
          "referenceAllele": "G",
          "start": 170824
        }
      ],
      "hgvs": [
        "NG_008838.3:g.170825G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616114"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5437,
          "referenceAllele": "G",
          "start": 5436
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000373344.11:c.5222G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362441.4:p.Arg1741Lys",
        "hgvsWellDefined": "ENSP00000362441.4:p.Arg1741Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751211",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000373344.11:c.5222G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000489.6:c.5222G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000362441.4:p.Arg1741Lys"
          },
          "RefSeq": {
            "hgvs": "NP_000480.3:p.Arg1741Lys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 952,
          "referenceAllele": "G",
          "start": 951
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000675732.1:c.320G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502598.1:p.Arg107Lys",
        "hgvsWellDefined": "ENSP00000502598.1:p.Arg107Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775511"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 957,
          "referenceAllele": "G",
          "start": 956
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000675908.1:n.957G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775668"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5490,
          "referenceAllele": "G",
          "start": 5489
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000373344.9:c.5222G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362441.4:p.Arg1741Lys",
        "hgvsWellDefined": "ENSP00000362441.4:p.Arg1741Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269638"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5323,
          "referenceAllele": "G",
          "start": 5322
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000395603.7:c.5108G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378967.3:p.Arg1703Lys",
        "hgvsWellDefined": "ENSP00000378967.3:p.Arg1703Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276784"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 203,
          "referenceAllele": "G",
          "start": 202
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000400866.4:c.203G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000383663.3:p.Arg68Lys",
        "hgvsWellDefined": "ENSP00000383663.3:p.Arg68Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279132"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5560,
          "referenceAllele": "G",
          "start": 5559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000480283.5:c.*4850G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480196.1:n.*4850G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS320467"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 566,
          "referenceAllele": "G",
          "start": 565
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000624403.1:n.566G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS406320"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499232758",
      "coordinates": [
        {
          "allele": "A",
          "end": 5490,
          "referenceAllele": "G",
          "start": 5489
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_000489.4:c.5222G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000480.3:p.Arg1741Lys",
        "hgvsWellDefined": "NP_000480.3:p.Arg1741Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006543"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830249969",
      "coordinates": [
        {
          "allele": "A",
          "end": 5376,
          "referenceAllele": "G",
          "start": 5375
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_138270.3:c.5108G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_612114.2:p.Arg1703Lys",
        "hgvsWellDefined": "NP_612114.2:p.Arg1703Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040611"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5487,
          "referenceAllele": "G",
          "start": 5486
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262153.3:c.5219G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262210.2:p.Arg1740Lys",
        "hgvsWellDefined": "XP_005262210.2:p.Arg1740Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063345"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5403,
          "referenceAllele": "G",
          "start": 5402
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262154.3:c.5135G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262211.2:p.Arg1712Lys",
        "hgvsWellDefined": "XP_005262211.2:p.Arg1712Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063346"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5591,
          "referenceAllele": "G",
          "start": 5590
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262155.3:c.5105G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262212.2:p.Arg1702Lys",
        "hgvsWellDefined": "XP_005262212.2:p.Arg1702Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063347"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5328,
          "referenceAllele": "G",
          "start": 5327
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262156.3:c.5057G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262213.2:p.Arg1686Lys",
        "hgvsWellDefined": "XP_005262213.2:p.Arg1686Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063348"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5286,
          "referenceAllele": "G",
          "start": 5285
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262157.3:c.5018G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262214.2:p.Arg1673Lys",
        "hgvsWellDefined": "XP_005262214.2:p.Arg1673Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063349"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5373,
          "referenceAllele": "G",
          "start": 5372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_006724666.2:c.5105G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724729.1:p.Arg1702Lys",
        "hgvsWellDefined": "XP_006724729.1:p.Arg1702Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075648"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5211,
          "referenceAllele": "G",
          "start": 5210
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_006724667.2:c.4943G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724730.1:p.Arg1648Lys",
        "hgvsWellDefined": "XP_006724730.1:p.Arg1648Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075649"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5490,
          "referenceAllele": "G",
          "start": 5489
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_006724668.2:c.5222G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724731.1:p.Arg1741Lys",
        "hgvsWellDefined": "XP_006724731.1:p.Arg1741Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075650"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5490,
          "referenceAllele": "G",
          "start": 5489
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XR_938400.1:n.5490G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS133098"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499232758",
      "coordinates": [
        {
          "allele": "A",
          "end": 5437,
          "referenceAllele": "G",
          "start": 5436
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_000489.5:c.5222G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000480.3:p.Arg1741Lys",
        "hgvsWellDefined": "NP_000480.3:p.Arg1741Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510800"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5434,
          "referenceAllele": "G",
          "start": 5433
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262153.5:c.5219G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262210.2:p.Arg1740Lys",
        "hgvsWellDefined": "XP_005262210.2:p.Arg1740Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535419"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5360,
          "referenceAllele": "G",
          "start": 5359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262154.5:c.5135G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262211.2:p.Arg1712Lys",
        "hgvsWellDefined": "XP_005262211.2:p.Arg1712Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535420"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5591,
          "referenceAllele": "G",
          "start": 5590
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262155.4:c.5105G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262212.2:p.Arg1702Lys",
        "hgvsWellDefined": "XP_005262212.2:p.Arg1702Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535421"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5343,
          "referenceAllele": "G",
          "start": 5342
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262156.4:c.5057G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262213.2:p.Arg1686Lys",
        "hgvsWellDefined": "XP_005262213.2:p.Arg1686Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535422"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5243,
          "referenceAllele": "G",
          "start": 5242
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262157.5:c.5018G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262214.2:p.Arg1673Lys",
        "hgvsWellDefined": "XP_005262214.2:p.Arg1673Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535423"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5330,
          "referenceAllele": "G",
          "start": 5329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_006724666.4:c.5105G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724729.1:p.Arg1702Lys",
        "hgvsWellDefined": "XP_006724729.1:p.Arg1702Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541034"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5229,
          "referenceAllele": "G",
          "start": 5228
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_006724667.3:c.4943G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724730.1:p.Arg1648Lys",
        "hgvsWellDefined": "XP_006724730.1:p.Arg1648Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541035"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5447,
          "referenceAllele": "G",
          "start": 5446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_006724668.3:c.5222G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724731.1:p.Arg1741Lys",
        "hgvsWellDefined": "XP_006724731.1:p.Arg1741Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541036"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5357,
          "referenceAllele": "G",
          "start": 5356
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029601.2:c.5132G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885090.1:p.Arg1711Lys",
        "hgvsWellDefined": "XP_016885090.1:p.Arg1711Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579117"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5571,
          "referenceAllele": "G",
          "start": 5570
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029602.1:c.5102G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885091.1:p.Arg1701Lys",
        "hgvsWellDefined": "XP_016885091.1:p.Arg1701Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579118"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5340,
          "referenceAllele": "G",
          "start": 5339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029603.1:c.5054G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885092.1:p.Arg1685Lys",
        "hgvsWellDefined": "XP_016885092.1:p.Arg1685Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579119"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5246,
          "referenceAllele": "G",
          "start": 5245
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029604.2:c.5021G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885093.1:p.Arg1674Lys",
        "hgvsWellDefined": "XP_016885093.1:p.Arg1674Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579120"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5504,
          "referenceAllele": "G",
          "start": 5503
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029605.1:c.5018G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885094.1:p.Arg1673Lys",
        "hgvsWellDefined": "XP_016885094.1:p.Arg1673Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579121"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5464,
          "referenceAllele": "G",
          "start": 5463
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029606.2:c.4991G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885095.1:p.Arg1664Lys",
        "hgvsWellDefined": "XP_016885095.1:p.Arg1664Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579122"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5457,
          "referenceAllele": "G",
          "start": 5456
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029607.2:c.4988G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885096.1:p.Arg1663Lys",
        "hgvsWellDefined": "XP_016885096.1:p.Arg1663Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579123"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5148,
          "referenceAllele": "G",
          "start": 5147
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029608.2:c.4940G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885097.1:p.Arg1647Lys",
        "hgvsWellDefined": "XP_016885097.1:p.Arg1647Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579124"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5390,
          "referenceAllele": "G",
          "start": 5389
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029609.1:c.4904G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885098.1:p.Arg1635Lys",
        "hgvsWellDefined": "XP_016885098.1:p.Arg1635Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579125"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5387,
          "referenceAllele": "G",
          "start": 5386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029610.1:c.4901G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885099.1:p.Arg1634Lys",
        "hgvsWellDefined": "XP_016885099.1:p.Arg1634Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579126"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5142,
          "referenceAllele": "G",
          "start": 5141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029611.1:c.4856G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885100.1:p.Arg1619Lys",
        "hgvsWellDefined": "XP_016885100.1:p.Arg1619Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579127"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5447,
          "referenceAllele": "G",
          "start": 5446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XR_001755700.2:n.5447G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS601333"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830249969",
      "coordinates": [
        {
          "allele": "A",
          "end": 5323,
          "referenceAllele": "G",
          "start": 5322
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_138270.4:c.5108G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_612114.2:p.Arg1703Lys",
        "hgvsWellDefined": "NP_612114.2:p.Arg1703Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699696"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499232758",
      "coordinates": [
        {
          "allele": "A",
          "end": 5437,
          "referenceAllele": "G",
          "start": 5436
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_000489.6:c.5222G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000480.3:p.Arg1741Lys",
        "hgvsWellDefined": "NP_000480.3:p.Arg1741Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710838",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000373344.11:c.5222G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000489.6:c.5222G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000362441.4:p.Arg1741Lys"
          },
          "RefSeq": {
            "hgvs": "NP_000480.3:p.Arg1741Lys"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830249969",
      "coordinates": [
        {
          "allele": "A",
          "end": 5323,
          "referenceAllele": "G",
          "start": 5322
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_138270.5:c.5108G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_612114.2:p.Arg1703Lys",
        "hgvsWellDefined": "NP_612114.2:p.Arg1703Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729130"
    }
  ],
  "type": "nucleotide"
}