{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10458243",
  "communityStandardTitle": [
    "NM_000489.6(ATRX):c.1033G>A (p.Ala345Thr)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4111160",
        "active": true,
        "id": "COSM4111160"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4111161",
        "active": true,
        "id": "COSM4111161"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=380126[alleleid]",
        "alleleId": 380126,
        "preferredName": "NM_000489.6(ATRX):c.1033G>A (p.Ala345Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/380286",
        "RCV": [
          "RCV000726862",
          "RCV001084389",
          "RCV002392969"
        ],
        "variationId": 380286
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/X-76939715-C-T",
        "id": "X-76939715-C-T",
        "variant": "X:76939715 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.76939715C>T?assembly=hg19",
        "id": "chrX:g.76939715C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.77684223C>T?assembly=hg38",
        "id": "chrX:g.77684223C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/149249195",
        "rs": 149249195
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-76939715-C-T?dataset=gnomad_r2_1",
        "id": "X-76939715-C-T",
        "variant": "X:76939715 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-77684223-C-T?dataset=gnomad_r3",
        "id": "X-77684223-C-T",
        "variant": "X:77684223 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-77684223-C-T?dataset=gnomad_r4",
        "id": "X-77684223-C-T",
        "variant": "X:77684223 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 77684223,
          "referenceAllele": "C",
          "start": 77684222
        }
      ],
      "hgvs": [
        "NC_000023.11:g.77684223C>T",
        "CM000685.2:g.77684223C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 76939715,
          "referenceAllele": "C",
          "start": 76939714
        }
      ],
      "hgvs": [
        "NC_000023.10:g.76939715C>T",
        "CM000685.1:g.76939715C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 76826371,
          "referenceAllele": "C",
          "start": 76826370
        }
      ],
      "hgvs": [
        "NC_000023.9:g.76826371C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 106999,
          "referenceAllele": "G",
          "start": 106998
        }
      ],
      "hgvs": [
        "NG_008838.2:g.106999G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001233"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 107047,
          "referenceAllele": "G",
          "start": 107046
        }
      ],
      "hgvs": [
        "NG_008838.3:g.107047G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616114"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1248,
          "referenceAllele": "G",
          "start": 1247
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000373344.11:c.1033G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362441.4:p.Ala345Thr",
        "hgvsWellDefined": "ENSP00000362441.4:p.Ala345Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751211",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000373344.11:c.1033G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000489.6:c.1033G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000362441.4:p.Ala345Thr"
          },
          "RefSeq": {
            "hgvs": "NP_000480.3:p.Ala345Thr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1301,
          "referenceAllele": "G",
          "start": 1300
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000373344.9:c.1033G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362441.4:p.Ala345Thr",
        "hgvsWellDefined": "ENSP00000362441.4:p.Ala345Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269638"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1134,
          "referenceAllele": "G",
          "start": 1133
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000395603.7:c.919G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378967.3:p.Ala307Thr",
        "hgvsWellDefined": "ENSP00000378967.3:p.Ala307Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276784"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1371,
          "referenceAllele": "G",
          "start": 1370
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000480283.5:c.*661G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480196.1:n.*661G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS320467"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1144,
          "referenceAllele": "G",
          "start": 1143
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000623321.3:c.868G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000485127.1:p.Ala290Thr",
        "hgvsWellDefined": "ENSP00000485127.1:p.Ala290Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS406049"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1240,
          "referenceAllele": "G",
          "start": 1239
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000624032.3:c.1033G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000485253.1:p.Ala345Thr",
        "hgvsWellDefined": "ENSP00000485253.1:p.Ala345Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS406233"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1135,
          "referenceAllele": "G",
          "start": 1134
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000624166.3:c.916G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000485103.1:p.Ala306Thr",
        "hgvsWellDefined": "ENSP00000485103.1:p.Ala306Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS406266"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645384379",
      "coordinates": [
        {
          "allele": "A",
          "end": 1301,
          "referenceAllele": "G",
          "start": 1300
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_000489.4:c.1033G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000480.3:p.Ala345Thr",
        "hgvsWellDefined": "NP_000480.3:p.Ala345Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006543"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830248834",
      "coordinates": [
        {
          "allele": "A",
          "end": 1187,
          "referenceAllele": "G",
          "start": 1186
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_138270.3:c.919G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_612114.2:p.Ala307Thr",
        "hgvsWellDefined": "NP_612114.2:p.Ala307Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040611"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1298,
          "referenceAllele": "G",
          "start": 1297
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262153.3:c.1030G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262210.2:p.Ala344Thr",
        "hgvsWellDefined": "XP_005262210.2:p.Ala344Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063345"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1301,
          "referenceAllele": "G",
          "start": 1300
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262154.3:c.1033G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262211.2:p.Ala345Thr",
        "hgvsWellDefined": "XP_005262211.2:p.Ala345Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063346"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1402,
          "referenceAllele": "G",
          "start": 1401
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262155.3:c.916G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262212.2:p.Ala306Thr",
        "hgvsWellDefined": "XP_005262212.2:p.Ala306Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063347"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1139,
          "referenceAllele": "G",
          "start": 1138
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262156.3:c.868G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262213.2:p.Ala290Thr",
        "hgvsWellDefined": "XP_005262213.2:p.Ala290Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063348"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1184,
          "referenceAllele": "G",
          "start": 1183
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262157.3:c.916G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262214.2:p.Ala306Thr",
        "hgvsWellDefined": "XP_005262214.2:p.Ala306Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063349"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1184,
          "referenceAllele": "G",
          "start": 1183
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_006724666.2:c.916G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724729.1:p.Ala306Thr",
        "hgvsWellDefined": "XP_006724729.1:p.Ala306Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075648"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1022,
          "referenceAllele": "G",
          "start": 1021
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_006724667.2:c.754G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724730.1:p.Ala252Thr",
        "hgvsWellDefined": "XP_006724730.1:p.Ala252Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075649"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1301,
          "referenceAllele": "G",
          "start": 1300
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_006724668.2:c.1033G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724731.1:p.Ala345Thr",
        "hgvsWellDefined": "XP_006724731.1:p.Ala345Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075650"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1301,
          "referenceAllele": "G",
          "start": 1300
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XR_938400.1:n.1301G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS133098"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645384379",
      "coordinates": [
        {
          "allele": "A",
          "end": 1248,
          "referenceAllele": "G",
          "start": 1247
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_000489.5:c.1033G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000480.3:p.Ala345Thr",
        "hgvsWellDefined": "NP_000480.3:p.Ala345Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510800"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1245,
          "referenceAllele": "G",
          "start": 1244
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262153.5:c.1030G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262210.2:p.Ala344Thr",
        "hgvsWellDefined": "XP_005262210.2:p.Ala344Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535419"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1258,
          "referenceAllele": "G",
          "start": 1257
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262154.5:c.1033G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262211.2:p.Ala345Thr",
        "hgvsWellDefined": "XP_005262211.2:p.Ala345Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535420"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1402,
          "referenceAllele": "G",
          "start": 1401
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262155.4:c.916G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262212.2:p.Ala306Thr",
        "hgvsWellDefined": "XP_005262212.2:p.Ala306Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535421"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1154,
          "referenceAllele": "G",
          "start": 1153
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262156.4:c.868G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262213.2:p.Ala290Thr",
        "hgvsWellDefined": "XP_005262213.2:p.Ala290Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535422"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1141,
          "referenceAllele": "G",
          "start": 1140
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262157.5:c.916G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262214.2:p.Ala306Thr",
        "hgvsWellDefined": "XP_005262214.2:p.Ala306Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535423"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1141,
          "referenceAllele": "G",
          "start": 1140
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_006724666.4:c.916G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724729.1:p.Ala306Thr",
        "hgvsWellDefined": "XP_006724729.1:p.Ala306Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541034"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1040,
          "referenceAllele": "G",
          "start": 1039
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_006724667.3:c.754G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724730.1:p.Ala252Thr",
        "hgvsWellDefined": "XP_006724730.1:p.Ala252Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541035"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1258,
          "referenceAllele": "G",
          "start": 1257
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_006724668.3:c.1033G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724731.1:p.Ala345Thr",
        "hgvsWellDefined": "XP_006724731.1:p.Ala345Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541036"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1255,
          "referenceAllele": "G",
          "start": 1254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029601.2:c.1030G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885090.1:p.Ala344Thr",
        "hgvsWellDefined": "XP_016885090.1:p.Ala344Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579117"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1382,
          "referenceAllele": "G",
          "start": 1381
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029602.1:c.913G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885091.1:p.Ala305Thr",
        "hgvsWellDefined": "XP_016885091.1:p.Ala305Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579118"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1151,
          "referenceAllele": "G",
          "start": 1150
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029603.1:c.865G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885092.1:p.Ala289Thr",
        "hgvsWellDefined": "XP_016885092.1:p.Ala289Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579119"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1144,
          "referenceAllele": "G",
          "start": 1143
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029604.2:c.919G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885093.1:p.Ala307Thr",
        "hgvsWellDefined": "XP_016885093.1:p.Ala307Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579120"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1402,
          "referenceAllele": "G",
          "start": 1401
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029605.1:c.916G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885094.1:p.Ala306Thr",
        "hgvsWellDefined": "XP_016885094.1:p.Ala306Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579121"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1275,
          "referenceAllele": "G",
          "start": 1274
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029606.2:c.802G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885095.1:p.Ala268Thr",
        "hgvsWellDefined": "XP_016885095.1:p.Ala268Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579122"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1268,
          "referenceAllele": "G",
          "start": 1267
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029607.2:c.799G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885096.1:p.Ala267Thr",
        "hgvsWellDefined": "XP_016885096.1:p.Ala267Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579123"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 959,
          "referenceAllele": "G",
          "start": 958
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029608.2:c.751G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885097.1:p.Ala251Thr",
        "hgvsWellDefined": "XP_016885097.1:p.Ala251Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579124"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1288,
          "referenceAllele": "G",
          "start": 1287
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029609.1:c.802G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885098.1:p.Ala268Thr",
        "hgvsWellDefined": "XP_016885098.1:p.Ala268Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579125"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1285,
          "referenceAllele": "G",
          "start": 1284
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029610.1:c.799G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885099.1:p.Ala267Thr",
        "hgvsWellDefined": "XP_016885099.1:p.Ala267Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579126"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1040,
          "referenceAllele": "G",
          "start": 1039
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029611.1:c.754G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885100.1:p.Ala252Thr",
        "hgvsWellDefined": "XP_016885100.1:p.Ala252Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579127"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1258,
          "referenceAllele": "G",
          "start": 1257
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XR_001755700.2:n.1258G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS601333"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830248834",
      "coordinates": [
        {
          "allele": "A",
          "end": 1134,
          "referenceAllele": "G",
          "start": 1133
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_138270.4:c.919G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_612114.2:p.Ala307Thr",
        "hgvsWellDefined": "NP_612114.2:p.Ala307Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699696"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645384379",
      "coordinates": [
        {
          "allele": "A",
          "end": 1248,
          "referenceAllele": "G",
          "start": 1247
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_000489.6:c.1033G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000480.3:p.Ala345Thr",
        "hgvsWellDefined": "NP_000480.3:p.Ala345Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710838",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000373344.11:c.1033G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000489.6:c.1033G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000362441.4:p.Ala345Thr"
          },
          "RefSeq": {
            "hgvs": "NP_000480.3:p.Ala345Thr"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830248834",
      "coordinates": [
        {
          "allele": "A",
          "end": 1134,
          "referenceAllele": "G",
          "start": 1133
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_138270.5:c.919G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_612114.2:p.Ala307Thr",
        "hgvsWellDefined": "NP_612114.2:p.Ala307Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729130"
    }
  ],
  "type": "nucleotide"
}