{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10606603",
  "communityStandardTitle": [
    "NM_000489.6(ATRX):c.2629G>A (p.Asp877Asn)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=274176[alleleid]",
        "alleleId": 274176,
        "preferredName": "NM_000489.6(ATRX):c.2629G>A (p.Asp877Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/289939",
        "RCV": [
          "RCV000259592",
          "RCV001262505"
        ],
        "variationId": 289939
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.76938119C>T?assembly=hg19",
        "id": "chrX:g.76938119C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.77682627C>T?assembly=hg38",
        "id": "chrX:g.77682627C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/886044896",
        "rs": 886044896
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-77682627-C-T?dataset=gnomad_r4",
        "id": "X-77682627-C-T",
        "variant": "X:77682627 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 77682627,
          "referenceAllele": "C",
          "start": 77682626
        }
      ],
      "hgvs": [
        "NC_000023.11:g.77682627C>T",
        "CM000685.2:g.77682627C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 76938119,
          "referenceAllele": "C",
          "start": 76938118
        }
      ],
      "hgvs": [
        "NC_000023.10:g.76938119C>T",
        "CM000685.1:g.76938119C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 76824775,
          "referenceAllele": "C",
          "start": 76824774
        }
      ],
      "hgvs": [
        "NC_000023.9:g.76824775C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 108595,
          "referenceAllele": "G",
          "start": 108594
        }
      ],
      "hgvs": [
        "NG_008838.2:g.108595G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001233"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 108643,
          "referenceAllele": "G",
          "start": 108642
        }
      ],
      "hgvs": [
        "NG_008838.3:g.108643G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616114"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2844,
          "referenceAllele": "G",
          "start": 2843
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000373344.11:c.2629G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362441.4:p.Asp877Asn",
        "hgvsWellDefined": "ENSP00000362441.4:p.Asp877Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751211",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000373344.11:c.2629G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000489.6:c.2629G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000362441.4:p.Asp877Asn"
          },
          "RefSeq": {
            "hgvs": "NP_000480.3:p.Asp877Asn"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2897,
          "referenceAllele": "G",
          "start": 2896
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000373344.9:c.2629G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362441.4:p.Asp877Asn",
        "hgvsWellDefined": "ENSP00000362441.4:p.Asp877Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269638"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2730,
          "referenceAllele": "G",
          "start": 2729
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000395603.7:c.2515G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378967.3:p.Asp839Asn",
        "hgvsWellDefined": "ENSP00000378967.3:p.Asp839Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276784"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2967,
          "referenceAllele": "G",
          "start": 2966
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000480283.5:c.*2257G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480196.1:n.*2257G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS320467"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2749,
          "referenceAllele": "G",
          "start": 2748
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000624032.3:c.2542G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000485253.1:p.Asp848Asn",
        "hgvsWellDefined": "ENSP00000485253.1:p.Asp848Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS406233"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2644,
          "referenceAllele": "G",
          "start": 2643
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000624166.3:c.2425G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000485103.1:p.Asp809Asn",
        "hgvsWellDefined": "ENSP00000485103.1:p.Asp809Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS406266"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645384481",
      "coordinates": [
        {
          "allele": "A",
          "end": 2897,
          "referenceAllele": "G",
          "start": 2896
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_000489.4:c.2629G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000480.3:p.Asp877Asn",
        "hgvsWellDefined": "NP_000480.3:p.Asp877Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006543"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830249349",
      "coordinates": [
        {
          "allele": "A",
          "end": 2783,
          "referenceAllele": "G",
          "start": 2782
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_138270.3:c.2515G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_612114.2:p.Asp839Asn",
        "hgvsWellDefined": "NP_612114.2:p.Asp839Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040611"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2894,
          "referenceAllele": "G",
          "start": 2893
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262153.3:c.2626G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262210.2:p.Asp876Asn",
        "hgvsWellDefined": "XP_005262210.2:p.Asp876Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063345"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2810,
          "referenceAllele": "G",
          "start": 2809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262154.3:c.2542G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262211.2:p.Asp848Asn",
        "hgvsWellDefined": "XP_005262211.2:p.Asp848Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063346"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2998,
          "referenceAllele": "G",
          "start": 2997
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262155.3:c.2512G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262212.2:p.Asp838Asn",
        "hgvsWellDefined": "XP_005262212.2:p.Asp838Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063347"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2735,
          "referenceAllele": "G",
          "start": 2734
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262156.3:c.2464G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262213.2:p.Asp822Asn",
        "hgvsWellDefined": "XP_005262213.2:p.Asp822Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063348"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2693,
          "referenceAllele": "G",
          "start": 2692
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262157.3:c.2425G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262214.2:p.Asp809Asn",
        "hgvsWellDefined": "XP_005262214.2:p.Asp809Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063349"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2780,
          "referenceAllele": "G",
          "start": 2779
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_006724666.2:c.2512G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724729.1:p.Asp838Asn",
        "hgvsWellDefined": "XP_006724729.1:p.Asp838Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075648"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2618,
          "referenceAllele": "G",
          "start": 2617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_006724667.2:c.2350G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724730.1:p.Asp784Asn",
        "hgvsWellDefined": "XP_006724730.1:p.Asp784Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075649"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2897,
          "referenceAllele": "G",
          "start": 2896
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_006724668.2:c.2629G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724731.1:p.Asp877Asn",
        "hgvsWellDefined": "XP_006724731.1:p.Asp877Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075650"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2897,
          "referenceAllele": "G",
          "start": 2896
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XR_938400.1:n.2897G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS133098"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645384481",
      "coordinates": [
        {
          "allele": "A",
          "end": 2844,
          "referenceAllele": "G",
          "start": 2843
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_000489.5:c.2629G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000480.3:p.Asp877Asn",
        "hgvsWellDefined": "NP_000480.3:p.Asp877Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510800"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2841,
          "referenceAllele": "G",
          "start": 2840
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262153.5:c.2626G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262210.2:p.Asp876Asn",
        "hgvsWellDefined": "XP_005262210.2:p.Asp876Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535419"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2767,
          "referenceAllele": "G",
          "start": 2766
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262154.5:c.2542G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262211.2:p.Asp848Asn",
        "hgvsWellDefined": "XP_005262211.2:p.Asp848Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535420"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2998,
          "referenceAllele": "G",
          "start": 2997
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262155.4:c.2512G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262212.2:p.Asp838Asn",
        "hgvsWellDefined": "XP_005262212.2:p.Asp838Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535421"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2750,
          "referenceAllele": "G",
          "start": 2749
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262156.4:c.2464G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262213.2:p.Asp822Asn",
        "hgvsWellDefined": "XP_005262213.2:p.Asp822Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535422"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2650,
          "referenceAllele": "G",
          "start": 2649
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262157.5:c.2425G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262214.2:p.Asp809Asn",
        "hgvsWellDefined": "XP_005262214.2:p.Asp809Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535423"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2737,
          "referenceAllele": "G",
          "start": 2736
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_006724666.4:c.2512G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724729.1:p.Asp838Asn",
        "hgvsWellDefined": "XP_006724729.1:p.Asp838Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541034"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2636,
          "referenceAllele": "G",
          "start": 2635
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_006724667.3:c.2350G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724730.1:p.Asp784Asn",
        "hgvsWellDefined": "XP_006724730.1:p.Asp784Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541035"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2854,
          "referenceAllele": "G",
          "start": 2853
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_006724668.3:c.2629G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724731.1:p.Asp877Asn",
        "hgvsWellDefined": "XP_006724731.1:p.Asp877Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541036"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2764,
          "referenceAllele": "G",
          "start": 2763
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029601.2:c.2539G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885090.1:p.Asp847Asn",
        "hgvsWellDefined": "XP_016885090.1:p.Asp847Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579117"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2978,
          "referenceAllele": "G",
          "start": 2977
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029602.1:c.2509G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885091.1:p.Asp837Asn",
        "hgvsWellDefined": "XP_016885091.1:p.Asp837Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579118"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2747,
          "referenceAllele": "G",
          "start": 2746
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029603.1:c.2461G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885092.1:p.Asp821Asn",
        "hgvsWellDefined": "XP_016885092.1:p.Asp821Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579119"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2653,
          "referenceAllele": "G",
          "start": 2652
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029604.2:c.2428G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885093.1:p.Asp810Asn",
        "hgvsWellDefined": "XP_016885093.1:p.Asp810Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579120"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2911,
          "referenceAllele": "G",
          "start": 2910
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029605.1:c.2425G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885094.1:p.Asp809Asn",
        "hgvsWellDefined": "XP_016885094.1:p.Asp809Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579121"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2871,
          "referenceAllele": "G",
          "start": 2870
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029606.2:c.2398G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885095.1:p.Asp800Asn",
        "hgvsWellDefined": "XP_016885095.1:p.Asp800Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579122"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2864,
          "referenceAllele": "G",
          "start": 2863
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029607.2:c.2395G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885096.1:p.Asp799Asn",
        "hgvsWellDefined": "XP_016885096.1:p.Asp799Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579123"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2555,
          "referenceAllele": "G",
          "start": 2554
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029608.2:c.2347G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885097.1:p.Asp783Asn",
        "hgvsWellDefined": "XP_016885097.1:p.Asp783Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579124"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2797,
          "referenceAllele": "G",
          "start": 2796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029609.1:c.2311G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885098.1:p.Asp771Asn",
        "hgvsWellDefined": "XP_016885098.1:p.Asp771Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579125"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2794,
          "referenceAllele": "G",
          "start": 2793
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029610.1:c.2308G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885099.1:p.Asp770Asn",
        "hgvsWellDefined": "XP_016885099.1:p.Asp770Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579126"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2549,
          "referenceAllele": "G",
          "start": 2548
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029611.1:c.2263G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885100.1:p.Asp755Asn",
        "hgvsWellDefined": "XP_016885100.1:p.Asp755Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579127"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2854,
          "referenceAllele": "G",
          "start": 2853
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XR_001755700.2:n.2854G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS601333"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830249349",
      "coordinates": [
        {
          "allele": "A",
          "end": 2730,
          "referenceAllele": "G",
          "start": 2729
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_138270.4:c.2515G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_612114.2:p.Asp839Asn",
        "hgvsWellDefined": "NP_612114.2:p.Asp839Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699696"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645384481",
      "coordinates": [
        {
          "allele": "A",
          "end": 2844,
          "referenceAllele": "G",
          "start": 2843
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_000489.6:c.2629G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000480.3:p.Asp877Asn",
        "hgvsWellDefined": "NP_000480.3:p.Asp877Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710838",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000373344.11:c.2629G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000489.6:c.2629G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000362441.4:p.Asp877Asn"
          },
          "RefSeq": {
            "hgvs": "NP_000480.3:p.Asp877Asn"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830249349",
      "coordinates": [
        {
          "allele": "A",
          "end": 2730,
          "referenceAllele": "G",
          "start": 2729
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_138270.5:c.2515G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_612114.2:p.Asp839Asn",
        "hgvsWellDefined": "NP_612114.2:p.Asp839Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729130"
    }
  ],
  "type": "nucleotide"
}