{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10458010",
  "communityStandardTitle": [
    "NM_000489.6(ATRX):c.2971G>C (p.Glu991Gln)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1934472[alleleid]",
        "alleleId": 1934472,
        "preferredName": "NM_000489.6(ATRX):c.2971G>C (p.Glu991Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2201870",
        "RCV": [
          "RCV002629831"
        ],
        "variationId": 2201870
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/X-76937777-C-G",
        "id": "X-76937777-C-G",
        "variant": "X:76937777 C / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.76937777C>G?assembly=hg19",
        "id": "chrX:g.76937777C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.77682285C>G?assembly=hg38",
        "id": "chrX:g.77682285C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/782574426",
        "rs": 782574426
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-76937777-C-G?dataset=gnomad_r2_1",
        "id": "X-76937777-C-G",
        "variant": "X:76937777 C / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-77682285-C-G?dataset=gnomad_r3",
        "id": "X-77682285-C-G",
        "variant": "X:77682285 C / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-77682285-C-G?dataset=gnomad_r4",
        "id": "X-77682285-C-G",
        "variant": "X:77682285 C / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 77682285,
          "referenceAllele": "C",
          "start": 77682284
        }
      ],
      "hgvs": [
        "NC_000023.11:g.77682285C>G",
        "CM000685.2:g.77682285C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 76937777,
          "referenceAllele": "C",
          "start": 76937776
        }
      ],
      "hgvs": [
        "NC_000023.10:g.76937777C>G",
        "CM000685.1:g.76937777C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 76824433,
          "referenceAllele": "C",
          "start": 76824432
        }
      ],
      "hgvs": [
        "NC_000023.9:g.76824433C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 108937,
          "referenceAllele": "G",
          "start": 108936
        }
      ],
      "hgvs": [
        "NG_008838.2:g.108937G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001233"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 108985,
          "referenceAllele": "G",
          "start": 108984
        }
      ],
      "hgvs": [
        "NG_008838.3:g.108985G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616114"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3186,
          "referenceAllele": "G",
          "start": 3185
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000373344.11:c.2971G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362441.4:p.Glu991Gln",
        "hgvsWellDefined": "ENSP00000362441.4:p.Glu991Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751211",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000373344.11:c.2971G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000489.6:c.2971G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000362441.4:p.Glu991Gln"
          },
          "RefSeq": {
            "hgvs": "NP_000480.3:p.Glu991Gln"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3239,
          "referenceAllele": "G",
          "start": 3238
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000373344.9:c.2971G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362441.4:p.Glu991Gln",
        "hgvsWellDefined": "ENSP00000362441.4:p.Glu991Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269638"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3072,
          "referenceAllele": "G",
          "start": 3071
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000395603.7:c.2857G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378967.3:p.Glu953Gln",
        "hgvsWellDefined": "ENSP00000378967.3:p.Glu953Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276784"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3309,
          "referenceAllele": "G",
          "start": 3308
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000480283.5:c.*2599G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480196.1:n.*2599G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS320467"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2986,
          "referenceAllele": "G",
          "start": 2985
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000624166.3:c.2767G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000485103.1:p.Glu923Gln",
        "hgvsWellDefined": "ENSP00000485103.1:p.Glu923Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS406266"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580119555",
      "coordinates": [
        {
          "allele": "C",
          "end": 3239,
          "referenceAllele": "G",
          "start": 3238
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_000489.4:c.2971G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000480.3:p.Glu991Gln",
        "hgvsWellDefined": "NP_000480.3:p.Glu991Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006543"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830249475",
      "coordinates": [
        {
          "allele": "C",
          "end": 3125,
          "referenceAllele": "G",
          "start": 3124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_138270.3:c.2857G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_612114.2:p.Glu953Gln",
        "hgvsWellDefined": "NP_612114.2:p.Glu953Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040611"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3236,
          "referenceAllele": "G",
          "start": 3235
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262153.3:c.2968G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262210.2:p.Glu990Gln",
        "hgvsWellDefined": "XP_005262210.2:p.Glu990Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063345"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3152,
          "referenceAllele": "G",
          "start": 3151
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262154.3:c.2884G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262211.2:p.Glu962Gln",
        "hgvsWellDefined": "XP_005262211.2:p.Glu962Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063346"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3340,
          "referenceAllele": "G",
          "start": 3339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262155.3:c.2854G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262212.2:p.Glu952Gln",
        "hgvsWellDefined": "XP_005262212.2:p.Glu952Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063347"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3077,
          "referenceAllele": "G",
          "start": 3076
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262156.3:c.2806G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262213.2:p.Glu936Gln",
        "hgvsWellDefined": "XP_005262213.2:p.Glu936Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063348"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3035,
          "referenceAllele": "G",
          "start": 3034
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262157.3:c.2767G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262214.2:p.Glu923Gln",
        "hgvsWellDefined": "XP_005262214.2:p.Glu923Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063349"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3122,
          "referenceAllele": "G",
          "start": 3121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_006724666.2:c.2854G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724729.1:p.Glu952Gln",
        "hgvsWellDefined": "XP_006724729.1:p.Glu952Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075648"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2960,
          "referenceAllele": "G",
          "start": 2959
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_006724667.2:c.2692G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724730.1:p.Glu898Gln",
        "hgvsWellDefined": "XP_006724730.1:p.Glu898Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075649"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3239,
          "referenceAllele": "G",
          "start": 3238
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_006724668.2:c.2971G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724731.1:p.Glu991Gln",
        "hgvsWellDefined": "XP_006724731.1:p.Glu991Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075650"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3239,
          "referenceAllele": "G",
          "start": 3238
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XR_938400.1:n.3239G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS133098"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580119555",
      "coordinates": [
        {
          "allele": "C",
          "end": 3186,
          "referenceAllele": "G",
          "start": 3185
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_000489.5:c.2971G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000480.3:p.Glu991Gln",
        "hgvsWellDefined": "NP_000480.3:p.Glu991Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510800"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3183,
          "referenceAllele": "G",
          "start": 3182
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262153.5:c.2968G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262210.2:p.Glu990Gln",
        "hgvsWellDefined": "XP_005262210.2:p.Glu990Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535419"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3109,
          "referenceAllele": "G",
          "start": 3108
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262154.5:c.2884G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262211.2:p.Glu962Gln",
        "hgvsWellDefined": "XP_005262211.2:p.Glu962Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535420"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3340,
          "referenceAllele": "G",
          "start": 3339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262155.4:c.2854G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262212.2:p.Glu952Gln",
        "hgvsWellDefined": "XP_005262212.2:p.Glu952Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535421"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3092,
          "referenceAllele": "G",
          "start": 3091
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262156.4:c.2806G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262213.2:p.Glu936Gln",
        "hgvsWellDefined": "XP_005262213.2:p.Glu936Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535422"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2992,
          "referenceAllele": "G",
          "start": 2991
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262157.5:c.2767G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262214.2:p.Glu923Gln",
        "hgvsWellDefined": "XP_005262214.2:p.Glu923Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535423"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3079,
          "referenceAllele": "G",
          "start": 3078
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_006724666.4:c.2854G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724729.1:p.Glu952Gln",
        "hgvsWellDefined": "XP_006724729.1:p.Glu952Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541034"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2978,
          "referenceAllele": "G",
          "start": 2977
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_006724667.3:c.2692G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724730.1:p.Glu898Gln",
        "hgvsWellDefined": "XP_006724730.1:p.Glu898Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541035"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3196,
          "referenceAllele": "G",
          "start": 3195
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_006724668.3:c.2971G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724731.1:p.Glu991Gln",
        "hgvsWellDefined": "XP_006724731.1:p.Glu991Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541036"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3106,
          "referenceAllele": "G",
          "start": 3105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029601.2:c.2881G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885090.1:p.Glu961Gln",
        "hgvsWellDefined": "XP_016885090.1:p.Glu961Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579117"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3320,
          "referenceAllele": "G",
          "start": 3319
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029602.1:c.2851G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885091.1:p.Glu951Gln",
        "hgvsWellDefined": "XP_016885091.1:p.Glu951Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579118"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3089,
          "referenceAllele": "G",
          "start": 3088
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029603.1:c.2803G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885092.1:p.Glu935Gln",
        "hgvsWellDefined": "XP_016885092.1:p.Glu935Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579119"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2995,
          "referenceAllele": "G",
          "start": 2994
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029604.2:c.2770G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885093.1:p.Glu924Gln",
        "hgvsWellDefined": "XP_016885093.1:p.Glu924Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579120"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3253,
          "referenceAllele": "G",
          "start": 3252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029605.1:c.2767G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885094.1:p.Glu923Gln",
        "hgvsWellDefined": "XP_016885094.1:p.Glu923Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579121"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3213,
          "referenceAllele": "G",
          "start": 3212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029606.2:c.2740G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885095.1:p.Glu914Gln",
        "hgvsWellDefined": "XP_016885095.1:p.Glu914Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579122"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3206,
          "referenceAllele": "G",
          "start": 3205
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029607.2:c.2737G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885096.1:p.Glu913Gln",
        "hgvsWellDefined": "XP_016885096.1:p.Glu913Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579123"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2897,
          "referenceAllele": "G",
          "start": 2896
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029608.2:c.2689G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885097.1:p.Glu897Gln",
        "hgvsWellDefined": "XP_016885097.1:p.Glu897Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579124"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3139,
          "referenceAllele": "G",
          "start": 3138
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029609.1:c.2653G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885098.1:p.Glu885Gln",
        "hgvsWellDefined": "XP_016885098.1:p.Glu885Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579125"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3136,
          "referenceAllele": "G",
          "start": 3135
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029610.1:c.2650G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885099.1:p.Glu884Gln",
        "hgvsWellDefined": "XP_016885099.1:p.Glu884Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579126"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2891,
          "referenceAllele": "G",
          "start": 2890
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029611.1:c.2605G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885100.1:p.Glu869Gln",
        "hgvsWellDefined": "XP_016885100.1:p.Glu869Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579127"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3196,
          "referenceAllele": "G",
          "start": 3195
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XR_001755700.2:n.3196G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS601333"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830249475",
      "coordinates": [
        {
          "allele": "C",
          "end": 3072,
          "referenceAllele": "G",
          "start": 3071
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_138270.4:c.2857G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_612114.2:p.Glu953Gln",
        "hgvsWellDefined": "NP_612114.2:p.Glu953Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699696"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580119555",
      "coordinates": [
        {
          "allele": "C",
          "end": 3186,
          "referenceAllele": "G",
          "start": 3185
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_000489.6:c.2971G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000480.3:p.Glu991Gln",
        "hgvsWellDefined": "NP_000480.3:p.Glu991Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710838",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000373344.11:c.2971G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000489.6:c.2971G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000362441.4:p.Glu991Gln"
          },
          "RefSeq": {
            "hgvs": "NP_000480.3:p.Glu991Gln"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830249475",
      "coordinates": [
        {
          "allele": "C",
          "end": 3072,
          "referenceAllele": "G",
          "start": 3071
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_138270.5:c.2857G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_612114.2:p.Glu953Gln",
        "hgvsWellDefined": "NP_612114.2:p.Glu953Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729130"
    }
  ],
  "type": "nucleotide"
}