{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA413703729",
  "communityStandardTitle": [
    "NM_000489.6(ATRX):c.5000A>G (p.Tyr1667Cys)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1456280[alleleid]",
        "alleleId": 1456280,
        "preferredName": "NM_000489.6(ATRX):c.5000A>G (p.Tyr1667Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1348892",
        "RCV": [
          "RCV002035074"
        ],
        "variationId": 1348892
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.76888829T>C?assembly=hg19",
        "id": "chrX:g.76888829T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.77633341T>C?assembly=hg38",
        "id": "chrX:g.77633341T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1557106489",
        "rs": 1557106489
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-76888829-T-C?dataset=gnomad_r2_1",
        "id": "X-76888829-T-C",
        "variant": "X:76888829 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-77633341-T-C?dataset=gnomad_r4",
        "id": "X-77633341-T-C",
        "variant": "X:77633341 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 77633341,
          "referenceAllele": "T",
          "start": 77633340
        }
      ],
      "hgvs": [
        "NC_000023.11:g.77633341T>C",
        "CM000685.2:g.77633341T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 76888829,
          "referenceAllele": "T",
          "start": 76888828
        }
      ],
      "hgvs": [
        "NC_000023.10:g.76888829T>C",
        "CM000685.1:g.76888829T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 76775485,
          "referenceAllele": "T",
          "start": 76775484
        }
      ],
      "hgvs": [
        "NC_000023.9:g.76775485T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 157881,
          "referenceAllele": "A",
          "start": 157880
        }
      ],
      "hgvs": [
        "NG_008838.2:g.157881A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001233"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 157929,
          "referenceAllele": "A",
          "start": 157928
        }
      ],
      "hgvs": [
        "NG_008838.3:g.157929A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616114"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5215,
          "referenceAllele": "A",
          "start": 5214
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000373344.11:c.5000A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362441.4:p.Tyr1667Cys",
        "hgvsWellDefined": "ENSP00000362441.4:p.Tyr1667Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751211",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000373344.11:c.5000A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000489.6:c.5000A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000362441.4:p.Tyr1667Cys"
          },
          "RefSeq": {
            "hgvs": "NP_000480.3:p.Tyr1667Cys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 730,
          "referenceAllele": "A",
          "start": 729
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000675732.1:c.98A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502598.1:p.Tyr33Cys",
        "hgvsWellDefined": "ENSP00000502598.1:p.Tyr33Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775511"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 735,
          "referenceAllele": "A",
          "start": 734
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000675908.1:n.735A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775668"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5268,
          "referenceAllele": "A",
          "start": 5267
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000373344.9:c.5000A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362441.4:p.Tyr1667Cys",
        "hgvsWellDefined": "ENSP00000362441.4:p.Tyr1667Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269638"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5101,
          "referenceAllele": "A",
          "start": 5100
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000395603.7:c.4886A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378967.3:p.Tyr1629Cys",
        "hgvsWellDefined": "ENSP00000378967.3:p.Tyr1629Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276784"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5338,
          "referenceAllele": "A",
          "start": 5337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000480283.5:c.*4628A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480196.1:n.*4628A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS320467"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 344,
          "referenceAllele": "A",
          "start": 343
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000624403.1:n.344A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS406320"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573170246",
      "coordinates": [
        {
          "allele": "G",
          "end": 5268,
          "referenceAllele": "A",
          "start": 5267
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_000489.4:c.5000A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000480.3:p.Tyr1667Cys",
        "hgvsWellDefined": "NP_000480.3:p.Tyr1667Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006543"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830249931",
      "coordinates": [
        {
          "allele": "G",
          "end": 5154,
          "referenceAllele": "A",
          "start": 5153
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_138270.3:c.4886A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_612114.2:p.Tyr1629Cys",
        "hgvsWellDefined": "NP_612114.2:p.Tyr1629Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040611"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5265,
          "referenceAllele": "A",
          "start": 5264
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262153.3:c.4997A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262210.2:p.Tyr1666Cys",
        "hgvsWellDefined": "XP_005262210.2:p.Tyr1666Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063345"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5181,
          "referenceAllele": "A",
          "start": 5180
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262154.3:c.4913A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262211.2:p.Tyr1638Cys",
        "hgvsWellDefined": "XP_005262211.2:p.Tyr1638Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063346"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5369,
          "referenceAllele": "A",
          "start": 5368
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262155.3:c.4883A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262212.2:p.Tyr1628Cys",
        "hgvsWellDefined": "XP_005262212.2:p.Tyr1628Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063347"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5106,
          "referenceAllele": "A",
          "start": 5105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262156.3:c.4835A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262213.2:p.Tyr1612Cys",
        "hgvsWellDefined": "XP_005262213.2:p.Tyr1612Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063348"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5064,
          "referenceAllele": "A",
          "start": 5063
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262157.3:c.4796A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262214.2:p.Tyr1599Cys",
        "hgvsWellDefined": "XP_005262214.2:p.Tyr1599Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063349"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5151,
          "referenceAllele": "A",
          "start": 5150
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_006724666.2:c.4883A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724729.1:p.Tyr1628Cys",
        "hgvsWellDefined": "XP_006724729.1:p.Tyr1628Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075648"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4989,
          "referenceAllele": "A",
          "start": 4988
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_006724667.2:c.4721A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724730.1:p.Tyr1574Cys",
        "hgvsWellDefined": "XP_006724730.1:p.Tyr1574Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075649"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5268,
          "referenceAllele": "A",
          "start": 5267
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_006724668.2:c.5000A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724731.1:p.Tyr1667Cys",
        "hgvsWellDefined": "XP_006724731.1:p.Tyr1667Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075650"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5268,
          "referenceAllele": "A",
          "start": 5267
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XR_938400.1:n.5268A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS133098"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573170246",
      "coordinates": [
        {
          "allele": "G",
          "end": 5215,
          "referenceAllele": "A",
          "start": 5214
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_000489.5:c.5000A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000480.3:p.Tyr1667Cys",
        "hgvsWellDefined": "NP_000480.3:p.Tyr1667Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510800"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5212,
          "referenceAllele": "A",
          "start": 5211
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262153.5:c.4997A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262210.2:p.Tyr1666Cys",
        "hgvsWellDefined": "XP_005262210.2:p.Tyr1666Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535419"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5138,
          "referenceAllele": "A",
          "start": 5137
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262154.5:c.4913A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262211.2:p.Tyr1638Cys",
        "hgvsWellDefined": "XP_005262211.2:p.Tyr1638Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535420"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5369,
          "referenceAllele": "A",
          "start": 5368
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262155.4:c.4883A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262212.2:p.Tyr1628Cys",
        "hgvsWellDefined": "XP_005262212.2:p.Tyr1628Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535421"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5121,
          "referenceAllele": "A",
          "start": 5120
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262156.4:c.4835A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262213.2:p.Tyr1612Cys",
        "hgvsWellDefined": "XP_005262213.2:p.Tyr1612Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535422"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5021,
          "referenceAllele": "A",
          "start": 5020
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262157.5:c.4796A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262214.2:p.Tyr1599Cys",
        "hgvsWellDefined": "XP_005262214.2:p.Tyr1599Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535423"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5108,
          "referenceAllele": "A",
          "start": 5107
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_006724666.4:c.4883A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724729.1:p.Tyr1628Cys",
        "hgvsWellDefined": "XP_006724729.1:p.Tyr1628Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541034"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5007,
          "referenceAllele": "A",
          "start": 5006
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_006724667.3:c.4721A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724730.1:p.Tyr1574Cys",
        "hgvsWellDefined": "XP_006724730.1:p.Tyr1574Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541035"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5225,
          "referenceAllele": "A",
          "start": 5224
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_006724668.3:c.5000A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724731.1:p.Tyr1667Cys",
        "hgvsWellDefined": "XP_006724731.1:p.Tyr1667Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541036"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5135,
          "referenceAllele": "A",
          "start": 5134
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029601.2:c.4910A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885090.1:p.Tyr1637Cys",
        "hgvsWellDefined": "XP_016885090.1:p.Tyr1637Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579117"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5349,
          "referenceAllele": "A",
          "start": 5348
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029602.1:c.4880A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885091.1:p.Tyr1627Cys",
        "hgvsWellDefined": "XP_016885091.1:p.Tyr1627Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579118"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5118,
          "referenceAllele": "A",
          "start": 5117
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029603.1:c.4832A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885092.1:p.Tyr1611Cys",
        "hgvsWellDefined": "XP_016885092.1:p.Tyr1611Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579119"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5024,
          "referenceAllele": "A",
          "start": 5023
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029604.2:c.4799A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885093.1:p.Tyr1600Cys",
        "hgvsWellDefined": "XP_016885093.1:p.Tyr1600Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579120"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5282,
          "referenceAllele": "A",
          "start": 5281
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029605.1:c.4796A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885094.1:p.Tyr1599Cys",
        "hgvsWellDefined": "XP_016885094.1:p.Tyr1599Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579121"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5242,
          "referenceAllele": "A",
          "start": 5241
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029606.2:c.4769A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885095.1:p.Tyr1590Cys",
        "hgvsWellDefined": "XP_016885095.1:p.Tyr1590Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579122"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5235,
          "referenceAllele": "A",
          "start": 5234
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029607.2:c.4766A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885096.1:p.Tyr1589Cys",
        "hgvsWellDefined": "XP_016885096.1:p.Tyr1589Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579123"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4926,
          "referenceAllele": "A",
          "start": 4925
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029608.2:c.4718A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885097.1:p.Tyr1573Cys",
        "hgvsWellDefined": "XP_016885097.1:p.Tyr1573Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579124"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5168,
          "referenceAllele": "A",
          "start": 5167
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029609.1:c.4682A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885098.1:p.Tyr1561Cys",
        "hgvsWellDefined": "XP_016885098.1:p.Tyr1561Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579125"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5165,
          "referenceAllele": "A",
          "start": 5164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029610.1:c.4679A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885099.1:p.Tyr1560Cys",
        "hgvsWellDefined": "XP_016885099.1:p.Tyr1560Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579126"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4920,
          "referenceAllele": "A",
          "start": 4919
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029611.1:c.4634A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885100.1:p.Tyr1545Cys",
        "hgvsWellDefined": "XP_016885100.1:p.Tyr1545Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579127"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5225,
          "referenceAllele": "A",
          "start": 5224
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XR_001755700.2:n.5225A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS601333"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830249931",
      "coordinates": [
        {
          "allele": "G",
          "end": 5101,
          "referenceAllele": "A",
          "start": 5100
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_138270.4:c.4886A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_612114.2:p.Tyr1629Cys",
        "hgvsWellDefined": "NP_612114.2:p.Tyr1629Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699696"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573170246",
      "coordinates": [
        {
          "allele": "G",
          "end": 5215,
          "referenceAllele": "A",
          "start": 5214
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_000489.6:c.5000A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000480.3:p.Tyr1667Cys",
        "hgvsWellDefined": "NP_000480.3:p.Tyr1667Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710838",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000373344.11:c.5000A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000489.6:c.5000A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000362441.4:p.Tyr1667Cys"
          },
          "RefSeq": {
            "hgvs": "NP_000480.3:p.Tyr1667Cys"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830249931",
      "coordinates": [
        {
          "allele": "G",
          "end": 5101,
          "referenceAllele": "A",
          "start": 5100
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_138270.5:c.4886A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_612114.2:p.Tyr1629Cys",
        "hgvsWellDefined": "NP_612114.2:p.Tyr1629Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729130"
    }
  ],
  "type": "nucleotide"
}