{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA413717700",
  "communityStandardTitle": [
    "NM_000489.6(ATRX):c.1507C>G (p.Gln503Glu)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1695447[alleleid]",
        "alleleId": 1695447,
        "preferredName": "NM_000489.6(ATRX):c.1507C>G (p.Gln503Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1703056",
        "RCV": [
          "RCV002280010"
        ],
        "variationId": 1703056
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.76939241G>C?assembly=hg19",
        "id": "chrX:g.76939241G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.77683749G>C?assembly=hg38",
        "id": "chrX:g.77683749G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1340830235",
        "rs": 1340830235
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-76939241-G-C?dataset=gnomad_r2_1",
        "id": "X-76939241-G-C",
        "variant": "X:76939241 G / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-77683749-G-C?dataset=gnomad_r4",
        "id": "X-77683749-G-C",
        "variant": "X:77683749 G / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 77683749,
          "referenceAllele": "G",
          "start": 77683748
        }
      ],
      "hgvs": [
        "NC_000023.11:g.77683749G>C",
        "CM000685.2:g.77683749G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 76939241,
          "referenceAllele": "G",
          "start": 76939240
        }
      ],
      "hgvs": [
        "NC_000023.10:g.76939241G>C",
        "CM000685.1:g.76939241G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 76825897,
          "referenceAllele": "G",
          "start": 76825896
        }
      ],
      "hgvs": [
        "NC_000023.9:g.76825897G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 107473,
          "referenceAllele": "C",
          "start": 107472
        }
      ],
      "hgvs": [
        "NG_008838.2:g.107473C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001233"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 107521,
          "referenceAllele": "C",
          "start": 107520
        }
      ],
      "hgvs": [
        "NG_008838.3:g.107521C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616114"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1722,
          "referenceAllele": "C",
          "start": 1721
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000373344.11:c.1507C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362441.4:p.Gln503Glu",
        "hgvsWellDefined": "ENSP00000362441.4:p.Gln503Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751211",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000373344.11:c.1507C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000489.6:c.1507C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000362441.4:p.Gln503Glu"
          },
          "RefSeq": {
            "hgvs": "NP_000480.3:p.Gln503Glu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1775,
          "referenceAllele": "C",
          "start": 1774
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000373344.9:c.1507C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362441.4:p.Gln503Glu",
        "hgvsWellDefined": "ENSP00000362441.4:p.Gln503Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269638"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1608,
          "referenceAllele": "C",
          "start": 1607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000395603.7:c.1393C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378967.3:p.Gln465Glu",
        "hgvsWellDefined": "ENSP00000378967.3:p.Gln465Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276784"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1845,
          "referenceAllele": "C",
          "start": 1844
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000480283.5:c.*1135C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480196.1:n.*1135C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS320467"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1618,
          "referenceAllele": "C",
          "start": 1617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000623321.3:c.1342C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000485127.1:p.Gln448Glu",
        "hgvsWellDefined": "ENSP00000485127.1:p.Gln448Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS406049"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1714,
          "referenceAllele": "C",
          "start": 1713
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000624032.3:c.1507C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000485253.1:p.Gln503Glu",
        "hgvsWellDefined": "ENSP00000485253.1:p.Gln503Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS406233"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1609,
          "referenceAllele": "C",
          "start": 1608
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000624166.3:c.1390C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000485103.1:p.Gln464Glu",
        "hgvsWellDefined": "ENSP00000485103.1:p.Gln464Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS406266"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580118973",
      "coordinates": [
        {
          "allele": "G",
          "end": 1775,
          "referenceAllele": "C",
          "start": 1774
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_000489.4:c.1507C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000480.3:p.Gln503Glu",
        "hgvsWellDefined": "NP_000480.3:p.Gln503Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006543"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830248998",
      "coordinates": [
        {
          "allele": "G",
          "end": 1661,
          "referenceAllele": "C",
          "start": 1660
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_138270.3:c.1393C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_612114.2:p.Gln465Glu",
        "hgvsWellDefined": "NP_612114.2:p.Gln465Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040611"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1772,
          "referenceAllele": "C",
          "start": 1771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262153.3:c.1504C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262210.2:p.Gln502Glu",
        "hgvsWellDefined": "XP_005262210.2:p.Gln502Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063345"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1775,
          "referenceAllele": "C",
          "start": 1774
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262154.3:c.1507C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262211.2:p.Gln503Glu",
        "hgvsWellDefined": "XP_005262211.2:p.Gln503Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063346"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1876,
          "referenceAllele": "C",
          "start": 1875
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262155.3:c.1390C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262212.2:p.Gln464Glu",
        "hgvsWellDefined": "XP_005262212.2:p.Gln464Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063347"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1613,
          "referenceAllele": "C",
          "start": 1612
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262156.3:c.1342C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262213.2:p.Gln448Glu",
        "hgvsWellDefined": "XP_005262213.2:p.Gln448Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063348"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1658,
          "referenceAllele": "C",
          "start": 1657
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262157.3:c.1390C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262214.2:p.Gln464Glu",
        "hgvsWellDefined": "XP_005262214.2:p.Gln464Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063349"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1658,
          "referenceAllele": "C",
          "start": 1657
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_006724666.2:c.1390C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724729.1:p.Gln464Glu",
        "hgvsWellDefined": "XP_006724729.1:p.Gln464Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075648"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1496,
          "referenceAllele": "C",
          "start": 1495
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_006724667.2:c.1228C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724730.1:p.Gln410Glu",
        "hgvsWellDefined": "XP_006724730.1:p.Gln410Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075649"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1775,
          "referenceAllele": "C",
          "start": 1774
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_006724668.2:c.1507C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724731.1:p.Gln503Glu",
        "hgvsWellDefined": "XP_006724731.1:p.Gln503Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075650"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1775,
          "referenceAllele": "C",
          "start": 1774
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XR_938400.1:n.1775C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS133098"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580118973",
      "coordinates": [
        {
          "allele": "G",
          "end": 1722,
          "referenceAllele": "C",
          "start": 1721
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_000489.5:c.1507C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000480.3:p.Gln503Glu",
        "hgvsWellDefined": "NP_000480.3:p.Gln503Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510800"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1719,
          "referenceAllele": "C",
          "start": 1718
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262153.5:c.1504C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262210.2:p.Gln502Glu",
        "hgvsWellDefined": "XP_005262210.2:p.Gln502Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535419"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1732,
          "referenceAllele": "C",
          "start": 1731
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262154.5:c.1507C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262211.2:p.Gln503Glu",
        "hgvsWellDefined": "XP_005262211.2:p.Gln503Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535420"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1876,
          "referenceAllele": "C",
          "start": 1875
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262155.4:c.1390C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262212.2:p.Gln464Glu",
        "hgvsWellDefined": "XP_005262212.2:p.Gln464Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535421"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1628,
          "referenceAllele": "C",
          "start": 1627
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262156.4:c.1342C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262213.2:p.Gln448Glu",
        "hgvsWellDefined": "XP_005262213.2:p.Gln448Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535422"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1615,
          "referenceAllele": "C",
          "start": 1614
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262157.5:c.1390C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262214.2:p.Gln464Glu",
        "hgvsWellDefined": "XP_005262214.2:p.Gln464Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535423"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1615,
          "referenceAllele": "C",
          "start": 1614
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_006724666.4:c.1390C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724729.1:p.Gln464Glu",
        "hgvsWellDefined": "XP_006724729.1:p.Gln464Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541034"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1514,
          "referenceAllele": "C",
          "start": 1513
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_006724667.3:c.1228C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724730.1:p.Gln410Glu",
        "hgvsWellDefined": "XP_006724730.1:p.Gln410Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541035"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1732,
          "referenceAllele": "C",
          "start": 1731
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_006724668.3:c.1507C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724731.1:p.Gln503Glu",
        "hgvsWellDefined": "XP_006724731.1:p.Gln503Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541036"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1729,
          "referenceAllele": "C",
          "start": 1728
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029601.2:c.1504C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885090.1:p.Gln502Glu",
        "hgvsWellDefined": "XP_016885090.1:p.Gln502Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579117"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1856,
          "referenceAllele": "C",
          "start": 1855
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029602.1:c.1387C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885091.1:p.Gln463Glu",
        "hgvsWellDefined": "XP_016885091.1:p.Gln463Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579118"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1625,
          "referenceAllele": "C",
          "start": 1624
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029603.1:c.1339C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885092.1:p.Gln447Glu",
        "hgvsWellDefined": "XP_016885092.1:p.Gln447Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579119"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1618,
          "referenceAllele": "C",
          "start": 1617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029604.2:c.1393C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885093.1:p.Gln465Glu",
        "hgvsWellDefined": "XP_016885093.1:p.Gln465Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579120"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1876,
          "referenceAllele": "C",
          "start": 1875
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029605.1:c.1390C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885094.1:p.Gln464Glu",
        "hgvsWellDefined": "XP_016885094.1:p.Gln464Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579121"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1749,
          "referenceAllele": "C",
          "start": 1748
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029606.2:c.1276C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885095.1:p.Gln426Glu",
        "hgvsWellDefined": "XP_016885095.1:p.Gln426Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579122"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1742,
          "referenceAllele": "C",
          "start": 1741
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029607.2:c.1273C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885096.1:p.Gln425Glu",
        "hgvsWellDefined": "XP_016885096.1:p.Gln425Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579123"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1433,
          "referenceAllele": "C",
          "start": 1432
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029608.2:c.1225C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885097.1:p.Gln409Glu",
        "hgvsWellDefined": "XP_016885097.1:p.Gln409Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579124"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1762,
          "referenceAllele": "C",
          "start": 1761
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029609.1:c.1276C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885098.1:p.Gln426Glu",
        "hgvsWellDefined": "XP_016885098.1:p.Gln426Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579125"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1759,
          "referenceAllele": "C",
          "start": 1758
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029610.1:c.1273C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885099.1:p.Gln425Glu",
        "hgvsWellDefined": "XP_016885099.1:p.Gln425Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579126"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1514,
          "referenceAllele": "C",
          "start": 1513
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029611.1:c.1228C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885100.1:p.Gln410Glu",
        "hgvsWellDefined": "XP_016885100.1:p.Gln410Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579127"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1732,
          "referenceAllele": "C",
          "start": 1731
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XR_001755700.2:n.1732C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS601333"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830248998",
      "coordinates": [
        {
          "allele": "G",
          "end": 1608,
          "referenceAllele": "C",
          "start": 1607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_138270.4:c.1393C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_612114.2:p.Gln465Glu",
        "hgvsWellDefined": "NP_612114.2:p.Gln465Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699696"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580118973",
      "coordinates": [
        {
          "allele": "G",
          "end": 1722,
          "referenceAllele": "C",
          "start": 1721
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_000489.6:c.1507C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000480.3:p.Gln503Glu",
        "hgvsWellDefined": "NP_000480.3:p.Gln503Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710838",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000373344.11:c.1507C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000489.6:c.1507C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000362441.4:p.Gln503Glu"
          },
          "RefSeq": {
            "hgvs": "NP_000480.3:p.Gln503Glu"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830248998",
      "coordinates": [
        {
          "allele": "G",
          "end": 1608,
          "referenceAllele": "C",
          "start": 1607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_138270.5:c.1393C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_612114.2:p.Gln465Glu",
        "hgvsWellDefined": "NP_612114.2:p.Gln465Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729130"
    }
  ],
  "type": "nucleotide"
}