{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA413712658",
  "communityStandardTitle": [
    "NM_000489.6(ATRX):c.2329G>A (p.Gly777Arg)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.76938419C>T?assembly=hg19",
        "id": "chrX:g.76938419C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.77682927C>T?assembly=hg38",
        "id": "chrX:g.77682927C>T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 77682927,
          "referenceAllele": "C",
          "start": 77682926
        }
      ],
      "hgvs": [
        "NC_000023.11:g.77682927C>T",
        "CM000685.2:g.77682927C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 76938419,
          "referenceAllele": "C",
          "start": 76938418
        }
      ],
      "hgvs": [
        "NC_000023.10:g.76938419C>T",
        "CM000685.1:g.76938419C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 76825075,
          "referenceAllele": "C",
          "start": 76825074
        }
      ],
      "hgvs": [
        "NC_000023.9:g.76825075C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 108295,
          "referenceAllele": "G",
          "start": 108294
        }
      ],
      "hgvs": [
        "NG_008838.2:g.108295G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001233"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 108343,
          "referenceAllele": "G",
          "start": 108342
        }
      ],
      "hgvs": [
        "NG_008838.3:g.108343G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616114"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2544,
          "referenceAllele": "G",
          "start": 2543
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000373344.11:c.2329G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362441.4:p.Gly777Arg",
        "hgvsWellDefined": "ENSP00000362441.4:p.Gly777Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751211",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000373344.11:c.2329G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000489.6:c.2329G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000362441.4:p.Gly777Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000480.3:p.Gly777Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2597,
          "referenceAllele": "G",
          "start": 2596
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000373344.9:c.2329G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362441.4:p.Gly777Arg",
        "hgvsWellDefined": "ENSP00000362441.4:p.Gly777Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269638"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2430,
          "referenceAllele": "G",
          "start": 2429
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000395603.7:c.2215G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378967.3:p.Gly739Arg",
        "hgvsWellDefined": "ENSP00000378967.3:p.Gly739Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276784"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2667,
          "referenceAllele": "G",
          "start": 2666
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000480283.5:c.*1957G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480196.1:n.*1957G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS320467"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2449,
          "referenceAllele": "G",
          "start": 2448
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000624032.3:c.2242G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000485253.1:p.Gly748Arg",
        "hgvsWellDefined": "ENSP00000485253.1:p.Gly748Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS406233"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2344,
          "referenceAllele": "G",
          "start": 2343
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000624166.3:c.2125G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000485103.1:p.Gly709Arg",
        "hgvsWellDefined": "ENSP00000485103.1:p.Gly709Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS406266"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499232799",
      "coordinates": [
        {
          "allele": "A",
          "end": 2597,
          "referenceAllele": "G",
          "start": 2596
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_000489.4:c.2329G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000480.3:p.Gly777Arg",
        "hgvsWellDefined": "NP_000480.3:p.Gly777Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006543"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830249243",
      "coordinates": [
        {
          "allele": "A",
          "end": 2483,
          "referenceAllele": "G",
          "start": 2482
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_138270.3:c.2215G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_612114.2:p.Gly739Arg",
        "hgvsWellDefined": "NP_612114.2:p.Gly739Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040611"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2594,
          "referenceAllele": "G",
          "start": 2593
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262153.3:c.2326G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262210.2:p.Gly776Arg",
        "hgvsWellDefined": "XP_005262210.2:p.Gly776Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063345"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2510,
          "referenceAllele": "G",
          "start": 2509
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262154.3:c.2242G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262211.2:p.Gly748Arg",
        "hgvsWellDefined": "XP_005262211.2:p.Gly748Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063346"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2698,
          "referenceAllele": "G",
          "start": 2697
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262155.3:c.2212G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262212.2:p.Gly738Arg",
        "hgvsWellDefined": "XP_005262212.2:p.Gly738Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063347"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2435,
          "referenceAllele": "G",
          "start": 2434
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262156.3:c.2164G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262213.2:p.Gly722Arg",
        "hgvsWellDefined": "XP_005262213.2:p.Gly722Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063348"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2393,
          "referenceAllele": "G",
          "start": 2392
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262157.3:c.2125G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262214.2:p.Gly709Arg",
        "hgvsWellDefined": "XP_005262214.2:p.Gly709Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063349"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2480,
          "referenceAllele": "G",
          "start": 2479
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_006724666.2:c.2212G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724729.1:p.Gly738Arg",
        "hgvsWellDefined": "XP_006724729.1:p.Gly738Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075648"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2318,
          "referenceAllele": "G",
          "start": 2317
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_006724667.2:c.2050G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724730.1:p.Gly684Arg",
        "hgvsWellDefined": "XP_006724730.1:p.Gly684Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075649"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2597,
          "referenceAllele": "G",
          "start": 2596
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_006724668.2:c.2329G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724731.1:p.Gly777Arg",
        "hgvsWellDefined": "XP_006724731.1:p.Gly777Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075650"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2597,
          "referenceAllele": "G",
          "start": 2596
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XR_938400.1:n.2597G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS133098"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499232799",
      "coordinates": [
        {
          "allele": "A",
          "end": 2544,
          "referenceAllele": "G",
          "start": 2543
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_000489.5:c.2329G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000480.3:p.Gly777Arg",
        "hgvsWellDefined": "NP_000480.3:p.Gly777Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510800"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2541,
          "referenceAllele": "G",
          "start": 2540
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262153.5:c.2326G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262210.2:p.Gly776Arg",
        "hgvsWellDefined": "XP_005262210.2:p.Gly776Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535419"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2467,
          "referenceAllele": "G",
          "start": 2466
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262154.5:c.2242G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262211.2:p.Gly748Arg",
        "hgvsWellDefined": "XP_005262211.2:p.Gly748Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535420"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2698,
          "referenceAllele": "G",
          "start": 2697
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262155.4:c.2212G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262212.2:p.Gly738Arg",
        "hgvsWellDefined": "XP_005262212.2:p.Gly738Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535421"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2450,
          "referenceAllele": "G",
          "start": 2449
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262156.4:c.2164G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262213.2:p.Gly722Arg",
        "hgvsWellDefined": "XP_005262213.2:p.Gly722Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535422"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2350,
          "referenceAllele": "G",
          "start": 2349
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262157.5:c.2125G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262214.2:p.Gly709Arg",
        "hgvsWellDefined": "XP_005262214.2:p.Gly709Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535423"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2437,
          "referenceAllele": "G",
          "start": 2436
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_006724666.4:c.2212G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724729.1:p.Gly738Arg",
        "hgvsWellDefined": "XP_006724729.1:p.Gly738Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541034"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2336,
          "referenceAllele": "G",
          "start": 2335
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_006724667.3:c.2050G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724730.1:p.Gly684Arg",
        "hgvsWellDefined": "XP_006724730.1:p.Gly684Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541035"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2554,
          "referenceAllele": "G",
          "start": 2553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_006724668.3:c.2329G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724731.1:p.Gly777Arg",
        "hgvsWellDefined": "XP_006724731.1:p.Gly777Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541036"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2464,
          "referenceAllele": "G",
          "start": 2463
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029601.2:c.2239G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885090.1:p.Gly747Arg",
        "hgvsWellDefined": "XP_016885090.1:p.Gly747Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579117"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2678,
          "referenceAllele": "G",
          "start": 2677
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029602.1:c.2209G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885091.1:p.Gly737Arg",
        "hgvsWellDefined": "XP_016885091.1:p.Gly737Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579118"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2447,
          "referenceAllele": "G",
          "start": 2446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029603.1:c.2161G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885092.1:p.Gly721Arg",
        "hgvsWellDefined": "XP_016885092.1:p.Gly721Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579119"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2353,
          "referenceAllele": "G",
          "start": 2352
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029604.2:c.2128G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885093.1:p.Gly710Arg",
        "hgvsWellDefined": "XP_016885093.1:p.Gly710Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579120"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2611,
          "referenceAllele": "G",
          "start": 2610
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029605.1:c.2125G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885094.1:p.Gly709Arg",
        "hgvsWellDefined": "XP_016885094.1:p.Gly709Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579121"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2571,
          "referenceAllele": "G",
          "start": 2570
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029606.2:c.2098G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885095.1:p.Gly700Arg",
        "hgvsWellDefined": "XP_016885095.1:p.Gly700Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579122"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2564,
          "referenceAllele": "G",
          "start": 2563
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029607.2:c.2095G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885096.1:p.Gly699Arg",
        "hgvsWellDefined": "XP_016885096.1:p.Gly699Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579123"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2255,
          "referenceAllele": "G",
          "start": 2254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029608.2:c.2047G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885097.1:p.Gly683Arg",
        "hgvsWellDefined": "XP_016885097.1:p.Gly683Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579124"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2497,
          "referenceAllele": "G",
          "start": 2496
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029609.1:c.2011G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885098.1:p.Gly671Arg",
        "hgvsWellDefined": "XP_016885098.1:p.Gly671Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579125"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2494,
          "referenceAllele": "G",
          "start": 2493
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029610.1:c.2008G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885099.1:p.Gly670Arg",
        "hgvsWellDefined": "XP_016885099.1:p.Gly670Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579126"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2249,
          "referenceAllele": "G",
          "start": 2248
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029611.1:c.1963G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885100.1:p.Gly655Arg",
        "hgvsWellDefined": "XP_016885100.1:p.Gly655Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579127"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2554,
          "referenceAllele": "G",
          "start": 2553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XR_001755700.2:n.2554G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS601333"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830249243",
      "coordinates": [
        {
          "allele": "A",
          "end": 2430,
          "referenceAllele": "G",
          "start": 2429
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_138270.4:c.2215G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_612114.2:p.Gly739Arg",
        "hgvsWellDefined": "NP_612114.2:p.Gly739Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699696"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499232799",
      "coordinates": [
        {
          "allele": "A",
          "end": 2544,
          "referenceAllele": "G",
          "start": 2543
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_000489.6:c.2329G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000480.3:p.Gly777Arg",
        "hgvsWellDefined": "NP_000480.3:p.Gly777Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710838",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000373344.11:c.2329G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000489.6:c.2329G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000362441.4:p.Gly777Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000480.3:p.Gly777Arg"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830249243",
      "coordinates": [
        {
          "allele": "A",
          "end": 2430,
          "referenceAllele": "G",
          "start": 2429
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_138270.5:c.2215G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_612114.2:p.Gly739Arg",
        "hgvsWellDefined": "NP_612114.2:p.Gly739Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729130"
    }
  ],
  "type": "nucleotide"
}