{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16609549",
  "communityStandardTitle": [
    "NM_000489.6(ATRX):c.1676C>T (p.Ser559Leu)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=389193[alleleid]",
        "alleleId": 389193,
        "preferredName": "NM_000489.6(ATRX):c.1676C>T (p.Ser559Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/402182",
        "RCV": [
          "RCV000454225",
          "RCV001706638"
        ],
        "variationId": 402182
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.76939072G>A?assembly=hg19",
        "id": "chrX:g.76939072G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.77683580G>A?assembly=hg38",
        "id": "chrX:g.77683580G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1060499760",
        "rs": 1060499760
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-77683580-G-A?dataset=gnomad_r4",
        "id": "X-77683580-G-A",
        "variant": "X:77683580 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 77683580,
          "referenceAllele": "G",
          "start": 77683579
        }
      ],
      "hgvs": [
        "NC_000023.11:g.77683580G>A",
        "CM000685.2:g.77683580G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 76939072,
          "referenceAllele": "G",
          "start": 76939071
        }
      ],
      "hgvs": [
        "NC_000023.10:g.76939072G>A",
        "CM000685.1:g.76939072G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 76825728,
          "referenceAllele": "G",
          "start": 76825727
        }
      ],
      "hgvs": [
        "NC_000023.9:g.76825728G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 107642,
          "referenceAllele": "C",
          "start": 107641
        }
      ],
      "hgvs": [
        "NG_008838.2:g.107642C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001233"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 107690,
          "referenceAllele": "C",
          "start": 107689
        }
      ],
      "hgvs": [
        "NG_008838.3:g.107690C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616114"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1891,
          "referenceAllele": "C",
          "start": 1890
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000373344.11:c.1676C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362441.4:p.Ser559Leu",
        "hgvsWellDefined": "ENSP00000362441.4:p.Ser559Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751211",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000373344.11:c.1676C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000489.6:c.1676C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000362441.4:p.Ser559Leu"
          },
          "RefSeq": {
            "hgvs": "NP_000480.3:p.Ser559Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1944,
          "referenceAllele": "C",
          "start": 1943
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000373344.9:c.1676C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362441.4:p.Ser559Leu",
        "hgvsWellDefined": "ENSP00000362441.4:p.Ser559Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269638"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1777,
          "referenceAllele": "C",
          "start": 1776
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000395603.7:c.1562C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378967.3:p.Ser521Leu",
        "hgvsWellDefined": "ENSP00000378967.3:p.Ser521Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276784"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2014,
          "referenceAllele": "C",
          "start": 2013
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000480283.5:c.*1304C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480196.1:n.*1304C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS320467"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1787,
          "referenceAllele": "C",
          "start": 1786
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000623321.3:c.1511C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000485127.1:p.Ser504Leu",
        "hgvsWellDefined": "ENSP00000485127.1:p.Ser504Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS406049"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1883,
          "referenceAllele": "C",
          "start": 1882
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000624032.3:c.1676C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000485253.1:p.Ser559Leu",
        "hgvsWellDefined": "ENSP00000485253.1:p.Ser559Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS406233"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1778,
          "referenceAllele": "C",
          "start": 1777
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000624166.3:c.1559C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000485103.1:p.Ser520Leu",
        "hgvsWellDefined": "ENSP00000485103.1:p.Ser520Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS406266"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645384432",
      "coordinates": [
        {
          "allele": "T",
          "end": 1944,
          "referenceAllele": "C",
          "start": 1943
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_000489.4:c.1676C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000480.3:p.Ser559Leu",
        "hgvsWellDefined": "NP_000480.3:p.Ser559Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006543"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830249048",
      "coordinates": [
        {
          "allele": "T",
          "end": 1830,
          "referenceAllele": "C",
          "start": 1829
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_138270.3:c.1562C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_612114.2:p.Ser521Leu",
        "hgvsWellDefined": "NP_612114.2:p.Ser521Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040611"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1941,
          "referenceAllele": "C",
          "start": 1940
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262153.3:c.1673C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262210.2:p.Ser558Leu",
        "hgvsWellDefined": "XP_005262210.2:p.Ser558Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063345"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1944,
          "referenceAllele": "C",
          "start": 1943
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262154.3:c.1676C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262211.2:p.Ser559Leu",
        "hgvsWellDefined": "XP_005262211.2:p.Ser559Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063346"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2045,
          "referenceAllele": "C",
          "start": 2044
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262155.3:c.1559C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262212.2:p.Ser520Leu",
        "hgvsWellDefined": "XP_005262212.2:p.Ser520Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063347"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1782,
          "referenceAllele": "C",
          "start": 1781
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262156.3:c.1511C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262213.2:p.Ser504Leu",
        "hgvsWellDefined": "XP_005262213.2:p.Ser504Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063348"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1827,
          "referenceAllele": "C",
          "start": 1826
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262157.3:c.1559C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262214.2:p.Ser520Leu",
        "hgvsWellDefined": "XP_005262214.2:p.Ser520Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063349"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1827,
          "referenceAllele": "C",
          "start": 1826
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_006724666.2:c.1559C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724729.1:p.Ser520Leu",
        "hgvsWellDefined": "XP_006724729.1:p.Ser520Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075648"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1665,
          "referenceAllele": "C",
          "start": 1664
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_006724667.2:c.1397C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724730.1:p.Ser466Leu",
        "hgvsWellDefined": "XP_006724730.1:p.Ser466Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075649"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1944,
          "referenceAllele": "C",
          "start": 1943
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_006724668.2:c.1676C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724731.1:p.Ser559Leu",
        "hgvsWellDefined": "XP_006724731.1:p.Ser559Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075650"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1944,
          "referenceAllele": "C",
          "start": 1943
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XR_938400.1:n.1944C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS133098"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645384432",
      "coordinates": [
        {
          "allele": "T",
          "end": 1891,
          "referenceAllele": "C",
          "start": 1890
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_000489.5:c.1676C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000480.3:p.Ser559Leu",
        "hgvsWellDefined": "NP_000480.3:p.Ser559Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510800"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1888,
          "referenceAllele": "C",
          "start": 1887
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262153.5:c.1673C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262210.2:p.Ser558Leu",
        "hgvsWellDefined": "XP_005262210.2:p.Ser558Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535419"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1901,
          "referenceAllele": "C",
          "start": 1900
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262154.5:c.1676C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262211.2:p.Ser559Leu",
        "hgvsWellDefined": "XP_005262211.2:p.Ser559Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535420"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2045,
          "referenceAllele": "C",
          "start": 2044
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262155.4:c.1559C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262212.2:p.Ser520Leu",
        "hgvsWellDefined": "XP_005262212.2:p.Ser520Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535421"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1797,
          "referenceAllele": "C",
          "start": 1796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262156.4:c.1511C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262213.2:p.Ser504Leu",
        "hgvsWellDefined": "XP_005262213.2:p.Ser504Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535422"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1784,
          "referenceAllele": "C",
          "start": 1783
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262157.5:c.1559C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262214.2:p.Ser520Leu",
        "hgvsWellDefined": "XP_005262214.2:p.Ser520Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535423"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1784,
          "referenceAllele": "C",
          "start": 1783
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_006724666.4:c.1559C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724729.1:p.Ser520Leu",
        "hgvsWellDefined": "XP_006724729.1:p.Ser520Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541034"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1683,
          "referenceAllele": "C",
          "start": 1682
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_006724667.3:c.1397C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724730.1:p.Ser466Leu",
        "hgvsWellDefined": "XP_006724730.1:p.Ser466Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541035"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1901,
          "referenceAllele": "C",
          "start": 1900
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_006724668.3:c.1676C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724731.1:p.Ser559Leu",
        "hgvsWellDefined": "XP_006724731.1:p.Ser559Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541036"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1898,
          "referenceAllele": "C",
          "start": 1897
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029601.2:c.1673C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885090.1:p.Ser558Leu",
        "hgvsWellDefined": "XP_016885090.1:p.Ser558Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579117"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2025,
          "referenceAllele": "C",
          "start": 2024
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029602.1:c.1556C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885091.1:p.Ser519Leu",
        "hgvsWellDefined": "XP_016885091.1:p.Ser519Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579118"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1794,
          "referenceAllele": "C",
          "start": 1793
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029603.1:c.1508C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885092.1:p.Ser503Leu",
        "hgvsWellDefined": "XP_016885092.1:p.Ser503Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579119"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1787,
          "referenceAllele": "C",
          "start": 1786
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029604.2:c.1562C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885093.1:p.Ser521Leu",
        "hgvsWellDefined": "XP_016885093.1:p.Ser521Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579120"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2045,
          "referenceAllele": "C",
          "start": 2044
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029605.1:c.1559C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885094.1:p.Ser520Leu",
        "hgvsWellDefined": "XP_016885094.1:p.Ser520Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579121"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1918,
          "referenceAllele": "C",
          "start": 1917
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029606.2:c.1445C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885095.1:p.Ser482Leu",
        "hgvsWellDefined": "XP_016885095.1:p.Ser482Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579122"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1911,
          "referenceAllele": "C",
          "start": 1910
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029607.2:c.1442C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885096.1:p.Ser481Leu",
        "hgvsWellDefined": "XP_016885096.1:p.Ser481Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579123"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1602,
          "referenceAllele": "C",
          "start": 1601
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029608.2:c.1394C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885097.1:p.Ser465Leu",
        "hgvsWellDefined": "XP_016885097.1:p.Ser465Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579124"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1931,
          "referenceAllele": "C",
          "start": 1930
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029609.1:c.1445C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885098.1:p.Ser482Leu",
        "hgvsWellDefined": "XP_016885098.1:p.Ser482Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579125"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1928,
          "referenceAllele": "C",
          "start": 1927
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029610.1:c.1442C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885099.1:p.Ser481Leu",
        "hgvsWellDefined": "XP_016885099.1:p.Ser481Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579126"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1683,
          "referenceAllele": "C",
          "start": 1682
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029611.1:c.1397C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885100.1:p.Ser466Leu",
        "hgvsWellDefined": "XP_016885100.1:p.Ser466Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579127"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1901,
          "referenceAllele": "C",
          "start": 1900
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XR_001755700.2:n.1901C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS601333"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830249048",
      "coordinates": [
        {
          "allele": "T",
          "end": 1777,
          "referenceAllele": "C",
          "start": 1776
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_138270.4:c.1562C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_612114.2:p.Ser521Leu",
        "hgvsWellDefined": "NP_612114.2:p.Ser521Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699696"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645384432",
      "coordinates": [
        {
          "allele": "T",
          "end": 1891,
          "referenceAllele": "C",
          "start": 1890
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_000489.6:c.1676C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000480.3:p.Ser559Leu",
        "hgvsWellDefined": "NP_000480.3:p.Ser559Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710838",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000373344.11:c.1676C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000489.6:c.1676C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000362441.4:p.Ser559Leu"
          },
          "RefSeq": {
            "hgvs": "NP_000480.3:p.Ser559Leu"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830249048",
      "coordinates": [
        {
          "allele": "T",
          "end": 1777,
          "referenceAllele": "C",
          "start": 1776
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_138270.5:c.1562C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_612114.2:p.Ser521Leu",
        "hgvsWellDefined": "NP_612114.2:p.Ser521Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729130"
    }
  ],
  "type": "nucleotide"
}