{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10458252",
  "communityStandardTitle": [
    "NM_000489.6(ATRX):c.926A>G (p.Tyr309Cys)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=270907[alleleid]",
        "alleleId": 270907,
        "preferredName": "NM_000489.6(ATRX):c.926A>G (p.Tyr309Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/286670",
        "RCV": [
          "RCV000399565",
          "RCV002059205"
        ],
        "variationId": 286670
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/X-76939822-T-C",
        "id": "X-76939822-T-C",
        "variant": "X:76939822 T / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.76939822T>C?assembly=hg19",
        "id": "chrX:g.76939822T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.77684330T>C?assembly=hg38",
        "id": "chrX:g.77684330T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/782058125",
        "rs": 782058125
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-76939822-T-C?dataset=gnomad_r2_1",
        "id": "X-76939822-T-C",
        "variant": "X:76939822 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-77684330-T-C?dataset=gnomad_r4",
        "id": "X-77684330-T-C",
        "variant": "X:77684330 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 77684330,
          "referenceAllele": "T",
          "start": 77684329
        }
      ],
      "hgvs": [
        "NC_000023.11:g.77684330T>C",
        "CM000685.2:g.77684330T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 76939822,
          "referenceAllele": "T",
          "start": 76939821
        }
      ],
      "hgvs": [
        "NC_000023.10:g.76939822T>C",
        "CM000685.1:g.76939822T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 76826478,
          "referenceAllele": "T",
          "start": 76826477
        }
      ],
      "hgvs": [
        "NC_000023.9:g.76826478T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 106892,
          "referenceAllele": "A",
          "start": 106891
        }
      ],
      "hgvs": [
        "NG_008838.2:g.106892A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001233"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 106940,
          "referenceAllele": "A",
          "start": 106939
        }
      ],
      "hgvs": [
        "NG_008838.3:g.106940A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616114"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1141,
          "referenceAllele": "A",
          "start": 1140
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000373344.11:c.926A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362441.4:p.Tyr309Cys",
        "hgvsWellDefined": "ENSP00000362441.4:p.Tyr309Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751211",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000373344.11:c.926A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000489.6:c.926A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000362441.4:p.Tyr309Cys"
          },
          "RefSeq": {
            "hgvs": "NP_000480.3:p.Tyr309Cys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1194,
          "referenceAllele": "A",
          "start": 1193
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000373344.9:c.926A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362441.4:p.Tyr309Cys",
        "hgvsWellDefined": "ENSP00000362441.4:p.Tyr309Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269638"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1027,
          "referenceAllele": "A",
          "start": 1026
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000395603.7:c.812A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378967.3:p.Tyr271Cys",
        "hgvsWellDefined": "ENSP00000378967.3:p.Tyr271Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276784"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1264,
          "referenceAllele": "A",
          "start": 1263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000480283.5:c.*554A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480196.1:n.*554A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS320467"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1037,
          "referenceAllele": "A",
          "start": 1036
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000623321.3:c.761A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000485127.1:p.Tyr254Cys",
        "hgvsWellDefined": "ENSP00000485127.1:p.Tyr254Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS406049"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1133,
          "referenceAllele": "A",
          "start": 1132
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000624032.3:c.926A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000485253.1:p.Tyr309Cys",
        "hgvsWellDefined": "ENSP00000485253.1:p.Tyr309Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS406233"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1028,
          "referenceAllele": "A",
          "start": 1027
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000624166.3:c.809A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000485103.1:p.Tyr270Cys",
        "hgvsWellDefined": "ENSP00000485103.1:p.Tyr270Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS406266"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645384372",
      "coordinates": [
        {
          "allele": "G",
          "end": 1194,
          "referenceAllele": "A",
          "start": 1193
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_000489.4:c.926A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000480.3:p.Tyr309Cys",
        "hgvsWellDefined": "NP_000480.3:p.Tyr309Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006543"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830248803",
      "coordinates": [
        {
          "allele": "G",
          "end": 1080,
          "referenceAllele": "A",
          "start": 1079
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_138270.3:c.812A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_612114.2:p.Tyr271Cys",
        "hgvsWellDefined": "NP_612114.2:p.Tyr271Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040611"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1191,
          "referenceAllele": "A",
          "start": 1190
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262153.3:c.923A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262210.2:p.Tyr308Cys",
        "hgvsWellDefined": "XP_005262210.2:p.Tyr308Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063345"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1194,
          "referenceAllele": "A",
          "start": 1193
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262154.3:c.926A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262211.2:p.Tyr309Cys",
        "hgvsWellDefined": "XP_005262211.2:p.Tyr309Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063346"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1295,
          "referenceAllele": "A",
          "start": 1294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262155.3:c.809A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262212.2:p.Tyr270Cys",
        "hgvsWellDefined": "XP_005262212.2:p.Tyr270Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063347"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1032,
          "referenceAllele": "A",
          "start": 1031
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262156.3:c.761A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262213.2:p.Tyr254Cys",
        "hgvsWellDefined": "XP_005262213.2:p.Tyr254Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063348"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1077,
          "referenceAllele": "A",
          "start": 1076
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262157.3:c.809A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262214.2:p.Tyr270Cys",
        "hgvsWellDefined": "XP_005262214.2:p.Tyr270Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063349"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1077,
          "referenceAllele": "A",
          "start": 1076
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_006724666.2:c.809A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724729.1:p.Tyr270Cys",
        "hgvsWellDefined": "XP_006724729.1:p.Tyr270Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075648"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 915,
          "referenceAllele": "A",
          "start": 914
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_006724667.2:c.647A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724730.1:p.Tyr216Cys",
        "hgvsWellDefined": "XP_006724730.1:p.Tyr216Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075649"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1194,
          "referenceAllele": "A",
          "start": 1193
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_006724668.2:c.926A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724731.1:p.Tyr309Cys",
        "hgvsWellDefined": "XP_006724731.1:p.Tyr309Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075650"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1194,
          "referenceAllele": "A",
          "start": 1193
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XR_938400.1:n.1194A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS133098"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645384372",
      "coordinates": [
        {
          "allele": "G",
          "end": 1141,
          "referenceAllele": "A",
          "start": 1140
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_000489.5:c.926A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000480.3:p.Tyr309Cys",
        "hgvsWellDefined": "NP_000480.3:p.Tyr309Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510800"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1138,
          "referenceAllele": "A",
          "start": 1137
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262153.5:c.923A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262210.2:p.Tyr308Cys",
        "hgvsWellDefined": "XP_005262210.2:p.Tyr308Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535419"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1151,
          "referenceAllele": "A",
          "start": 1150
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262154.5:c.926A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262211.2:p.Tyr309Cys",
        "hgvsWellDefined": "XP_005262211.2:p.Tyr309Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535420"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1295,
          "referenceAllele": "A",
          "start": 1294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262155.4:c.809A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262212.2:p.Tyr270Cys",
        "hgvsWellDefined": "XP_005262212.2:p.Tyr270Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535421"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1047,
          "referenceAllele": "A",
          "start": 1046
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262156.4:c.761A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262213.2:p.Tyr254Cys",
        "hgvsWellDefined": "XP_005262213.2:p.Tyr254Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535422"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1034,
          "referenceAllele": "A",
          "start": 1033
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262157.5:c.809A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262214.2:p.Tyr270Cys",
        "hgvsWellDefined": "XP_005262214.2:p.Tyr270Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535423"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1034,
          "referenceAllele": "A",
          "start": 1033
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_006724666.4:c.809A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724729.1:p.Tyr270Cys",
        "hgvsWellDefined": "XP_006724729.1:p.Tyr270Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541034"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 933,
          "referenceAllele": "A",
          "start": 932
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_006724667.3:c.647A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724730.1:p.Tyr216Cys",
        "hgvsWellDefined": "XP_006724730.1:p.Tyr216Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541035"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1151,
          "referenceAllele": "A",
          "start": 1150
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_006724668.3:c.926A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724731.1:p.Tyr309Cys",
        "hgvsWellDefined": "XP_006724731.1:p.Tyr309Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541036"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1148,
          "referenceAllele": "A",
          "start": 1147
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029601.2:c.923A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885090.1:p.Tyr308Cys",
        "hgvsWellDefined": "XP_016885090.1:p.Tyr308Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579117"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1275,
          "referenceAllele": "A",
          "start": 1274
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029602.1:c.806A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885091.1:p.Tyr269Cys",
        "hgvsWellDefined": "XP_016885091.1:p.Tyr269Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579118"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1044,
          "referenceAllele": "A",
          "start": 1043
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029603.1:c.758A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885092.1:p.Tyr253Cys",
        "hgvsWellDefined": "XP_016885092.1:p.Tyr253Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579119"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1037,
          "referenceAllele": "A",
          "start": 1036
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029604.2:c.812A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885093.1:p.Tyr271Cys",
        "hgvsWellDefined": "XP_016885093.1:p.Tyr271Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579120"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1295,
          "referenceAllele": "A",
          "start": 1294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029605.1:c.809A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885094.1:p.Tyr270Cys",
        "hgvsWellDefined": "XP_016885094.1:p.Tyr270Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579121"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1168,
          "referenceAllele": "A",
          "start": 1167
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029606.2:c.695A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885095.1:p.Tyr232Cys",
        "hgvsWellDefined": "XP_016885095.1:p.Tyr232Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579122"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1161,
          "referenceAllele": "A",
          "start": 1160
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029607.2:c.692A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885096.1:p.Tyr231Cys",
        "hgvsWellDefined": "XP_016885096.1:p.Tyr231Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579123"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 852,
          "referenceAllele": "A",
          "start": 851
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029608.2:c.644A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885097.1:p.Tyr215Cys",
        "hgvsWellDefined": "XP_016885097.1:p.Tyr215Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579124"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1181,
          "referenceAllele": "A",
          "start": 1180
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029609.1:c.695A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885098.1:p.Tyr232Cys",
        "hgvsWellDefined": "XP_016885098.1:p.Tyr232Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579125"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1178,
          "referenceAllele": "A",
          "start": 1177
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029610.1:c.692A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885099.1:p.Tyr231Cys",
        "hgvsWellDefined": "XP_016885099.1:p.Tyr231Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579126"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 933,
          "referenceAllele": "A",
          "start": 932
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029611.1:c.647A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885100.1:p.Tyr216Cys",
        "hgvsWellDefined": "XP_016885100.1:p.Tyr216Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579127"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1151,
          "referenceAllele": "A",
          "start": 1150
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XR_001755700.2:n.1151A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS601333"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830248803",
      "coordinates": [
        {
          "allele": "G",
          "end": 1027,
          "referenceAllele": "A",
          "start": 1026
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_138270.4:c.812A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_612114.2:p.Tyr271Cys",
        "hgvsWellDefined": "NP_612114.2:p.Tyr271Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699696"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645384372",
      "coordinates": [
        {
          "allele": "G",
          "end": 1141,
          "referenceAllele": "A",
          "start": 1140
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_000489.6:c.926A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000480.3:p.Tyr309Cys",
        "hgvsWellDefined": "NP_000480.3:p.Tyr309Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710838",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000373344.11:c.926A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000489.6:c.926A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000362441.4:p.Tyr309Cys"
          },
          "RefSeq": {
            "hgvs": "NP_000480.3:p.Tyr309Cys"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830248803",
      "coordinates": [
        {
          "allele": "G",
          "end": 1027,
          "referenceAllele": "A",
          "start": 1026
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_138270.5:c.812A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_612114.2:p.Tyr271Cys",
        "hgvsWellDefined": "NP_612114.2:p.Tyr271Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729130"
    }
  ],
  "type": "nucleotide"
}