{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16609214",
  "communityStandardTitle": [
    "NM_000489.6(ATRX):c.2875G>T (p.Asp959Tyr)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=380125[alleleid]",
        "alleleId": 380125,
        "preferredName": "NM_000489.6(ATRX):c.2875G>T (p.Asp959Tyr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/389447",
        "RCV": [
          "RCV000417534",
          "RCV000809360",
          "RCV002522517",
          "RCV003151056"
        ],
        "variationId": 389447
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.76937873C>A?assembly=hg19",
        "id": "chrX:g.76937873C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.77682381C>A?assembly=hg38",
        "id": "chrX:g.77682381C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057523431",
        "rs": 1057523431
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-77682381-C-A?dataset=gnomad_r3",
        "id": "X-77682381-C-A",
        "variant": "X:77682381 C / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-77682381-C-A?dataset=gnomad_r4",
        "id": "X-77682381-C-A",
        "variant": "X:77682381 C / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 77682381,
          "referenceAllele": "C",
          "start": 77682380
        }
      ],
      "hgvs": [
        "NC_000023.11:g.77682381C>A",
        "CM000685.2:g.77682381C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 76937873,
          "referenceAllele": "C",
          "start": 76937872
        }
      ],
      "hgvs": [
        "NC_000023.10:g.76937873C>A",
        "CM000685.1:g.76937873C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 76824529,
          "referenceAllele": "C",
          "start": 76824528
        }
      ],
      "hgvs": [
        "NC_000023.9:g.76824529C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 108841,
          "referenceAllele": "G",
          "start": 108840
        }
      ],
      "hgvs": [
        "NG_008838.2:g.108841G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001233"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 108889,
          "referenceAllele": "G",
          "start": 108888
        }
      ],
      "hgvs": [
        "NG_008838.3:g.108889G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616114"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3090,
          "referenceAllele": "G",
          "start": 3089
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000373344.11:c.2875G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362441.4:p.Asp959Tyr",
        "hgvsWellDefined": "ENSP00000362441.4:p.Asp959Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751211",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000373344.11:c.2875G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000489.6:c.2875G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000362441.4:p.Asp959Tyr"
          },
          "RefSeq": {
            "hgvs": "NP_000480.3:p.Asp959Tyr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3143,
          "referenceAllele": "G",
          "start": 3142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000373344.9:c.2875G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362441.4:p.Asp959Tyr",
        "hgvsWellDefined": "ENSP00000362441.4:p.Asp959Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269638"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2976,
          "referenceAllele": "G",
          "start": 2975
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000395603.7:c.2761G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378967.3:p.Asp921Tyr",
        "hgvsWellDefined": "ENSP00000378967.3:p.Asp921Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276784"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3213,
          "referenceAllele": "G",
          "start": 3212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000480283.5:c.*2503G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480196.1:n.*2503G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS320467"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2995,
          "referenceAllele": "G",
          "start": 2994
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000624032.3:c.2788G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000485253.1:p.Asp930Tyr",
        "hgvsWellDefined": "ENSP00000485253.1:p.Asp930Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS406233"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2890,
          "referenceAllele": "G",
          "start": 2889
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000624166.3:c.2671G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000485103.1:p.Asp891Tyr",
        "hgvsWellDefined": "ENSP00000485103.1:p.Asp891Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS406266"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645384540",
      "coordinates": [
        {
          "allele": "T",
          "end": 3143,
          "referenceAllele": "G",
          "start": 3142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_000489.4:c.2875G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000480.3:p.Asp959Tyr",
        "hgvsWellDefined": "NP_000480.3:p.Asp959Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006543"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830249446",
      "coordinates": [
        {
          "allele": "T",
          "end": 3029,
          "referenceAllele": "G",
          "start": 3028
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_138270.3:c.2761G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_612114.2:p.Asp921Tyr",
        "hgvsWellDefined": "NP_612114.2:p.Asp921Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040611"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3140,
          "referenceAllele": "G",
          "start": 3139
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262153.3:c.2872G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262210.2:p.Asp958Tyr",
        "hgvsWellDefined": "XP_005262210.2:p.Asp958Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063345"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3056,
          "referenceAllele": "G",
          "start": 3055
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262154.3:c.2788G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262211.2:p.Asp930Tyr",
        "hgvsWellDefined": "XP_005262211.2:p.Asp930Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063346"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3244,
          "referenceAllele": "G",
          "start": 3243
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262155.3:c.2758G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262212.2:p.Asp920Tyr",
        "hgvsWellDefined": "XP_005262212.2:p.Asp920Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063347"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2981,
          "referenceAllele": "G",
          "start": 2980
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262156.3:c.2710G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262213.2:p.Asp904Tyr",
        "hgvsWellDefined": "XP_005262213.2:p.Asp904Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063348"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2939,
          "referenceAllele": "G",
          "start": 2938
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262157.3:c.2671G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262214.2:p.Asp891Tyr",
        "hgvsWellDefined": "XP_005262214.2:p.Asp891Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063349"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3026,
          "referenceAllele": "G",
          "start": 3025
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_006724666.2:c.2758G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724729.1:p.Asp920Tyr",
        "hgvsWellDefined": "XP_006724729.1:p.Asp920Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075648"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2864,
          "referenceAllele": "G",
          "start": 2863
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_006724667.2:c.2596G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724730.1:p.Asp866Tyr",
        "hgvsWellDefined": "XP_006724730.1:p.Asp866Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075649"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3143,
          "referenceAllele": "G",
          "start": 3142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_006724668.2:c.2875G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724731.1:p.Asp959Tyr",
        "hgvsWellDefined": "XP_006724731.1:p.Asp959Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075650"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3143,
          "referenceAllele": "G",
          "start": 3142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XR_938400.1:n.3143G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS133098"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645384540",
      "coordinates": [
        {
          "allele": "T",
          "end": 3090,
          "referenceAllele": "G",
          "start": 3089
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_000489.5:c.2875G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000480.3:p.Asp959Tyr",
        "hgvsWellDefined": "NP_000480.3:p.Asp959Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510800"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3087,
          "referenceAllele": "G",
          "start": 3086
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262153.5:c.2872G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262210.2:p.Asp958Tyr",
        "hgvsWellDefined": "XP_005262210.2:p.Asp958Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535419"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3013,
          "referenceAllele": "G",
          "start": 3012
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262154.5:c.2788G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262211.2:p.Asp930Tyr",
        "hgvsWellDefined": "XP_005262211.2:p.Asp930Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535420"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3244,
          "referenceAllele": "G",
          "start": 3243
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262155.4:c.2758G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262212.2:p.Asp920Tyr",
        "hgvsWellDefined": "XP_005262212.2:p.Asp920Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535421"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2996,
          "referenceAllele": "G",
          "start": 2995
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262156.4:c.2710G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262213.2:p.Asp904Tyr",
        "hgvsWellDefined": "XP_005262213.2:p.Asp904Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535422"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2896,
          "referenceAllele": "G",
          "start": 2895
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262157.5:c.2671G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262214.2:p.Asp891Tyr",
        "hgvsWellDefined": "XP_005262214.2:p.Asp891Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535423"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2983,
          "referenceAllele": "G",
          "start": 2982
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_006724666.4:c.2758G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724729.1:p.Asp920Tyr",
        "hgvsWellDefined": "XP_006724729.1:p.Asp920Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541034"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2882,
          "referenceAllele": "G",
          "start": 2881
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_006724667.3:c.2596G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724730.1:p.Asp866Tyr",
        "hgvsWellDefined": "XP_006724730.1:p.Asp866Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541035"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3100,
          "referenceAllele": "G",
          "start": 3099
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_006724668.3:c.2875G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724731.1:p.Asp959Tyr",
        "hgvsWellDefined": "XP_006724731.1:p.Asp959Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541036"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3010,
          "referenceAllele": "G",
          "start": 3009
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029601.2:c.2785G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885090.1:p.Asp929Tyr",
        "hgvsWellDefined": "XP_016885090.1:p.Asp929Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579117"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3224,
          "referenceAllele": "G",
          "start": 3223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029602.1:c.2755G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885091.1:p.Asp919Tyr",
        "hgvsWellDefined": "XP_016885091.1:p.Asp919Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579118"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2993,
          "referenceAllele": "G",
          "start": 2992
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029603.1:c.2707G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885092.1:p.Asp903Tyr",
        "hgvsWellDefined": "XP_016885092.1:p.Asp903Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579119"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2899,
          "referenceAllele": "G",
          "start": 2898
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029604.2:c.2674G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885093.1:p.Asp892Tyr",
        "hgvsWellDefined": "XP_016885093.1:p.Asp892Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579120"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3157,
          "referenceAllele": "G",
          "start": 3156
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029605.1:c.2671G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885094.1:p.Asp891Tyr",
        "hgvsWellDefined": "XP_016885094.1:p.Asp891Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579121"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3117,
          "referenceAllele": "G",
          "start": 3116
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029606.2:c.2644G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885095.1:p.Asp882Tyr",
        "hgvsWellDefined": "XP_016885095.1:p.Asp882Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579122"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3110,
          "referenceAllele": "G",
          "start": 3109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029607.2:c.2641G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885096.1:p.Asp881Tyr",
        "hgvsWellDefined": "XP_016885096.1:p.Asp881Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579123"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2801,
          "referenceAllele": "G",
          "start": 2800
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029608.2:c.2593G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885097.1:p.Asp865Tyr",
        "hgvsWellDefined": "XP_016885097.1:p.Asp865Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579124"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3043,
          "referenceAllele": "G",
          "start": 3042
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029609.1:c.2557G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885098.1:p.Asp853Tyr",
        "hgvsWellDefined": "XP_016885098.1:p.Asp853Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579125"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3040,
          "referenceAllele": "G",
          "start": 3039
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029610.1:c.2554G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885099.1:p.Asp852Tyr",
        "hgvsWellDefined": "XP_016885099.1:p.Asp852Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579126"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2795,
          "referenceAllele": "G",
          "start": 2794
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029611.1:c.2509G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885100.1:p.Asp837Tyr",
        "hgvsWellDefined": "XP_016885100.1:p.Asp837Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579127"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3100,
          "referenceAllele": "G",
          "start": 3099
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XR_001755700.2:n.3100G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS601333"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830249446",
      "coordinates": [
        {
          "allele": "T",
          "end": 2976,
          "referenceAllele": "G",
          "start": 2975
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_138270.4:c.2761G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_612114.2:p.Asp921Tyr",
        "hgvsWellDefined": "NP_612114.2:p.Asp921Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699696"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645384540",
      "coordinates": [
        {
          "allele": "T",
          "end": 3090,
          "referenceAllele": "G",
          "start": 3089
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_000489.6:c.2875G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000480.3:p.Asp959Tyr",
        "hgvsWellDefined": "NP_000480.3:p.Asp959Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710838",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000373344.11:c.2875G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000489.6:c.2875G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000362441.4:p.Asp959Tyr"
          },
          "RefSeq": {
            "hgvs": "NP_000480.3:p.Asp959Tyr"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830249446",
      "coordinates": [
        {
          "allele": "T",
          "end": 2976,
          "referenceAllele": "G",
          "start": 2975
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_138270.5:c.2761G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_612114.2:p.Asp921Tyr",
        "hgvsWellDefined": "NP_612114.2:p.Asp921Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729130"
    }
  ],
  "type": "nucleotide"
}