{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10458152",
  "communityStandardTitle": [
    "NM_000489.6(ATRX):c.1844A>G (p.Tyr615Cys)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1150990[alleleid]",
        "alleleId": 1150990,
        "preferredName": "NM_000489.6(ATRX):c.1844A>G (p.Tyr615Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1159216",
        "RCV": [
          "RCV001502886"
        ],
        "variationId": 1159216
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/X-76938904-T-C",
        "id": "X-76938904-T-C",
        "variant": "X:76938904 T / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.76938904T>C?assembly=hg19",
        "id": "chrX:g.76938904T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.77683412T>C?assembly=hg38",
        "id": "chrX:g.77683412T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/782184873",
        "rs": 782184873
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-76938904-T-C?dataset=gnomad_r2_1",
        "id": "X-76938904-T-C",
        "variant": "X:76938904 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-77683412-T-C?dataset=gnomad_r4",
        "id": "X-77683412-T-C",
        "variant": "X:77683412 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 77683412,
          "referenceAllele": "T",
          "start": 77683411
        }
      ],
      "hgvs": [
        "NC_000023.11:g.77683412T>C",
        "CM000685.2:g.77683412T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 76938904,
          "referenceAllele": "T",
          "start": 76938903
        }
      ],
      "hgvs": [
        "NC_000023.10:g.76938904T>C",
        "CM000685.1:g.76938904T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 76825560,
          "referenceAllele": "T",
          "start": 76825559
        }
      ],
      "hgvs": [
        "NC_000023.9:g.76825560T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 107810,
          "referenceAllele": "A",
          "start": 107809
        }
      ],
      "hgvs": [
        "NG_008838.2:g.107810A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001233"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 107858,
          "referenceAllele": "A",
          "start": 107857
        }
      ],
      "hgvs": [
        "NG_008838.3:g.107858A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616114"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2059,
          "referenceAllele": "A",
          "start": 2058
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000373344.11:c.1844A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362441.4:p.Tyr615Cys",
        "hgvsWellDefined": "ENSP00000362441.4:p.Tyr615Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751211",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000373344.11:c.1844A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000489.6:c.1844A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000362441.4:p.Tyr615Cys"
          },
          "RefSeq": {
            "hgvs": "NP_000480.3:p.Tyr615Cys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2112,
          "referenceAllele": "A",
          "start": 2111
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000373344.9:c.1844A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362441.4:p.Tyr615Cys",
        "hgvsWellDefined": "ENSP00000362441.4:p.Tyr615Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269638"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1945,
          "referenceAllele": "A",
          "start": 1944
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000395603.7:c.1730A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378967.3:p.Tyr577Cys",
        "hgvsWellDefined": "ENSP00000378967.3:p.Tyr577Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276784"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2182,
          "referenceAllele": "A",
          "start": 2181
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000480283.5:c.*1472A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480196.1:n.*1472A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS320467"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1964,
          "referenceAllele": "A",
          "start": 1963
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000624032.3:c.1757A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000485253.1:p.Tyr586Cys",
        "hgvsWellDefined": "ENSP00000485253.1:p.Tyr586Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS406233"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1859,
          "referenceAllele": "A",
          "start": 1858
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000624166.3:c.1640A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000485103.1:p.Tyr547Cys",
        "hgvsWellDefined": "ENSP00000485103.1:p.Tyr547Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS406266"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499232789",
      "coordinates": [
        {
          "allele": "G",
          "end": 2112,
          "referenceAllele": "A",
          "start": 2111
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_000489.4:c.1844A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000480.3:p.Tyr615Cys",
        "hgvsWellDefined": "NP_000480.3:p.Tyr615Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006543"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830249097",
      "coordinates": [
        {
          "allele": "G",
          "end": 1998,
          "referenceAllele": "A",
          "start": 1997
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_138270.3:c.1730A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_612114.2:p.Tyr577Cys",
        "hgvsWellDefined": "NP_612114.2:p.Tyr577Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040611"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2109,
          "referenceAllele": "A",
          "start": 2108
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262153.3:c.1841A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262210.2:p.Tyr614Cys",
        "hgvsWellDefined": "XP_005262210.2:p.Tyr614Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063345"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2025,
          "referenceAllele": "A",
          "start": 2024
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262154.3:c.1757A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262211.2:p.Tyr586Cys",
        "hgvsWellDefined": "XP_005262211.2:p.Tyr586Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063346"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2213,
          "referenceAllele": "A",
          "start": 2212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262155.3:c.1727A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262212.2:p.Tyr576Cys",
        "hgvsWellDefined": "XP_005262212.2:p.Tyr576Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063347"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1950,
          "referenceAllele": "A",
          "start": 1949
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262156.3:c.1679A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262213.2:p.Tyr560Cys",
        "hgvsWellDefined": "XP_005262213.2:p.Tyr560Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063348"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1908,
          "referenceAllele": "A",
          "start": 1907
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262157.3:c.1640A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262214.2:p.Tyr547Cys",
        "hgvsWellDefined": "XP_005262214.2:p.Tyr547Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063349"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1995,
          "referenceAllele": "A",
          "start": 1994
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_006724666.2:c.1727A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724729.1:p.Tyr576Cys",
        "hgvsWellDefined": "XP_006724729.1:p.Tyr576Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075648"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1833,
          "referenceAllele": "A",
          "start": 1832
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_006724667.2:c.1565A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724730.1:p.Tyr522Cys",
        "hgvsWellDefined": "XP_006724730.1:p.Tyr522Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075649"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2112,
          "referenceAllele": "A",
          "start": 2111
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_006724668.2:c.1844A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724731.1:p.Tyr615Cys",
        "hgvsWellDefined": "XP_006724731.1:p.Tyr615Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075650"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2112,
          "referenceAllele": "A",
          "start": 2111
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XR_938400.1:n.2112A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS133098"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499232789",
      "coordinates": [
        {
          "allele": "G",
          "end": 2059,
          "referenceAllele": "A",
          "start": 2058
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_000489.5:c.1844A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000480.3:p.Tyr615Cys",
        "hgvsWellDefined": "NP_000480.3:p.Tyr615Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510800"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2056,
          "referenceAllele": "A",
          "start": 2055
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262153.5:c.1841A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262210.2:p.Tyr614Cys",
        "hgvsWellDefined": "XP_005262210.2:p.Tyr614Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535419"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1982,
          "referenceAllele": "A",
          "start": 1981
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262154.5:c.1757A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262211.2:p.Tyr586Cys",
        "hgvsWellDefined": "XP_005262211.2:p.Tyr586Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535420"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2213,
          "referenceAllele": "A",
          "start": 2212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262155.4:c.1727A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262212.2:p.Tyr576Cys",
        "hgvsWellDefined": "XP_005262212.2:p.Tyr576Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535421"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1965,
          "referenceAllele": "A",
          "start": 1964
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262156.4:c.1679A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262213.2:p.Tyr560Cys",
        "hgvsWellDefined": "XP_005262213.2:p.Tyr560Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535422"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1865,
          "referenceAllele": "A",
          "start": 1864
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262157.5:c.1640A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262214.2:p.Tyr547Cys",
        "hgvsWellDefined": "XP_005262214.2:p.Tyr547Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535423"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1952,
          "referenceAllele": "A",
          "start": 1951
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_006724666.4:c.1727A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724729.1:p.Tyr576Cys",
        "hgvsWellDefined": "XP_006724729.1:p.Tyr576Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541034"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1851,
          "referenceAllele": "A",
          "start": 1850
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_006724667.3:c.1565A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724730.1:p.Tyr522Cys",
        "hgvsWellDefined": "XP_006724730.1:p.Tyr522Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541035"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2069,
          "referenceAllele": "A",
          "start": 2068
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_006724668.3:c.1844A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724731.1:p.Tyr615Cys",
        "hgvsWellDefined": "XP_006724731.1:p.Tyr615Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541036"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1979,
          "referenceAllele": "A",
          "start": 1978
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029601.2:c.1754A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885090.1:p.Tyr585Cys",
        "hgvsWellDefined": "XP_016885090.1:p.Tyr585Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579117"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2193,
          "referenceAllele": "A",
          "start": 2192
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029602.1:c.1724A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885091.1:p.Tyr575Cys",
        "hgvsWellDefined": "XP_016885091.1:p.Tyr575Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579118"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1962,
          "referenceAllele": "A",
          "start": 1961
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029603.1:c.1676A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885092.1:p.Tyr559Cys",
        "hgvsWellDefined": "XP_016885092.1:p.Tyr559Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579119"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1868,
          "referenceAllele": "A",
          "start": 1867
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029604.2:c.1643A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885093.1:p.Tyr548Cys",
        "hgvsWellDefined": "XP_016885093.1:p.Tyr548Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579120"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2126,
          "referenceAllele": "A",
          "start": 2125
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029605.1:c.1640A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885094.1:p.Tyr547Cys",
        "hgvsWellDefined": "XP_016885094.1:p.Tyr547Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579121"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2086,
          "referenceAllele": "A",
          "start": 2085
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029606.2:c.1613A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885095.1:p.Tyr538Cys",
        "hgvsWellDefined": "XP_016885095.1:p.Tyr538Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579122"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2079,
          "referenceAllele": "A",
          "start": 2078
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029607.2:c.1610A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885096.1:p.Tyr537Cys",
        "hgvsWellDefined": "XP_016885096.1:p.Tyr537Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579123"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1770,
          "referenceAllele": "A",
          "start": 1769
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029608.2:c.1562A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885097.1:p.Tyr521Cys",
        "hgvsWellDefined": "XP_016885097.1:p.Tyr521Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579124"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2012,
          "referenceAllele": "A",
          "start": 2011
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029609.1:c.1526A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885098.1:p.Tyr509Cys",
        "hgvsWellDefined": "XP_016885098.1:p.Tyr509Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579125"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2009,
          "referenceAllele": "A",
          "start": 2008
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029610.1:c.1523A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885099.1:p.Tyr508Cys",
        "hgvsWellDefined": "XP_016885099.1:p.Tyr508Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579126"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1764,
          "referenceAllele": "A",
          "start": 1763
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029611.1:c.1478A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885100.1:p.Tyr493Cys",
        "hgvsWellDefined": "XP_016885100.1:p.Tyr493Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579127"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2069,
          "referenceAllele": "A",
          "start": 2068
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XR_001755700.2:n.2069A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS601333"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830249097",
      "coordinates": [
        {
          "allele": "G",
          "end": 1945,
          "referenceAllele": "A",
          "start": 1944
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_138270.4:c.1730A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_612114.2:p.Tyr577Cys",
        "hgvsWellDefined": "NP_612114.2:p.Tyr577Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699696"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499232789",
      "coordinates": [
        {
          "allele": "G",
          "end": 2059,
          "referenceAllele": "A",
          "start": 2058
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_000489.6:c.1844A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000480.3:p.Tyr615Cys",
        "hgvsWellDefined": "NP_000480.3:p.Tyr615Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710838",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000373344.11:c.1844A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000489.6:c.1844A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000362441.4:p.Tyr615Cys"
          },
          "RefSeq": {
            "hgvs": "NP_000480.3:p.Tyr615Cys"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830249097",
      "coordinates": [
        {
          "allele": "G",
          "end": 1945,
          "referenceAllele": "A",
          "start": 1944
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_138270.5:c.1730A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_612114.2:p.Tyr577Cys",
        "hgvsWellDefined": "NP_612114.2:p.Tyr577Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729130"
    }
  ],
  "type": "nucleotide"
}