{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA413719166",
  "communityStandardTitle": [
    "NM_000489.6(ATRX):c.1186A>C (p.Lys396Gln)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1376872[alleleid]",
        "alleleId": 1376872,
        "preferredName": "NM_000489.6(ATRX):c.1186A>C (p.Lys396Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1362247",
        "RCV": [
          "RCV001932189",
          "RCV003230704"
        ],
        "variationId": 1362247
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.76939562T>G?assembly=hg19",
        "id": "chrX:g.76939562T>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.77684070T>G?assembly=hg38",
        "id": "chrX:g.77684070T>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2071415045",
        "rs": 2071415045
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 77684070,
          "referenceAllele": "T",
          "start": 77684069
        }
      ],
      "hgvs": [
        "NC_000023.11:g.77684070T>G",
        "CM000685.2:g.77684070T>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 76939562,
          "referenceAllele": "T",
          "start": 76939561
        }
      ],
      "hgvs": [
        "NC_000023.10:g.76939562T>G",
        "CM000685.1:g.76939562T>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 76826218,
          "referenceAllele": "T",
          "start": 76826217
        }
      ],
      "hgvs": [
        "NC_000023.9:g.76826218T>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 107152,
          "referenceAllele": "A",
          "start": 107151
        }
      ],
      "hgvs": [
        "NG_008838.2:g.107152A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001233"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 107200,
          "referenceAllele": "A",
          "start": 107199
        }
      ],
      "hgvs": [
        "NG_008838.3:g.107200A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616114"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1401,
          "referenceAllele": "A",
          "start": 1400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000373344.11:c.1186A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362441.4:p.Lys396Gln",
        "hgvsWellDefined": "ENSP00000362441.4:p.Lys396Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751211",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000373344.11:c.1186A>C"
          },
          "RefSeq": {
            "hgvs": "NM_000489.6:c.1186A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000362441.4:p.Lys396Gln"
          },
          "RefSeq": {
            "hgvs": "NP_000480.3:p.Lys396Gln"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1454,
          "referenceAllele": "A",
          "start": 1453
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000373344.9:c.1186A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362441.4:p.Lys396Gln",
        "hgvsWellDefined": "ENSP00000362441.4:p.Lys396Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269638"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1287,
          "referenceAllele": "A",
          "start": 1286
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000395603.7:c.1072A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378967.3:p.Lys358Gln",
        "hgvsWellDefined": "ENSP00000378967.3:p.Lys358Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276784"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1524,
          "referenceAllele": "A",
          "start": 1523
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000480283.5:c.*814A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480196.1:n.*814A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS320467"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1297,
          "referenceAllele": "A",
          "start": 1296
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000623321.3:c.1021A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000485127.1:p.Lys341Gln",
        "hgvsWellDefined": "ENSP00000485127.1:p.Lys341Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS406049"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1393,
          "referenceAllele": "A",
          "start": 1392
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000624032.3:c.1186A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000485253.1:p.Lys396Gln",
        "hgvsWellDefined": "ENSP00000485253.1:p.Lys396Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS406233"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1288,
          "referenceAllele": "A",
          "start": 1287
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000624166.3:c.1069A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000485103.1:p.Lys357Gln",
        "hgvsWellDefined": "ENSP00000485103.1:p.Lys357Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS406266"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573170030",
      "coordinates": [
        {
          "allele": "C",
          "end": 1454,
          "referenceAllele": "A",
          "start": 1453
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_000489.4:c.1186A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000480.3:p.Lys396Gln",
        "hgvsWellDefined": "NP_000480.3:p.Lys396Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006543"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830248879",
      "coordinates": [
        {
          "allele": "C",
          "end": 1340,
          "referenceAllele": "A",
          "start": 1339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_138270.3:c.1072A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_612114.2:p.Lys358Gln",
        "hgvsWellDefined": "NP_612114.2:p.Lys358Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040611"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1451,
          "referenceAllele": "A",
          "start": 1450
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262153.3:c.1183A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262210.2:p.Lys395Gln",
        "hgvsWellDefined": "XP_005262210.2:p.Lys395Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063345"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1454,
          "referenceAllele": "A",
          "start": 1453
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262154.3:c.1186A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262211.2:p.Lys396Gln",
        "hgvsWellDefined": "XP_005262211.2:p.Lys396Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063346"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1555,
          "referenceAllele": "A",
          "start": 1554
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262155.3:c.1069A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262212.2:p.Lys357Gln",
        "hgvsWellDefined": "XP_005262212.2:p.Lys357Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063347"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1292,
          "referenceAllele": "A",
          "start": 1291
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262156.3:c.1021A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262213.2:p.Lys341Gln",
        "hgvsWellDefined": "XP_005262213.2:p.Lys341Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063348"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1337,
          "referenceAllele": "A",
          "start": 1336
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262157.3:c.1069A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262214.2:p.Lys357Gln",
        "hgvsWellDefined": "XP_005262214.2:p.Lys357Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063349"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1337,
          "referenceAllele": "A",
          "start": 1336
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_006724666.2:c.1069A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724729.1:p.Lys357Gln",
        "hgvsWellDefined": "XP_006724729.1:p.Lys357Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075648"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1175,
          "referenceAllele": "A",
          "start": 1174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_006724667.2:c.907A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724730.1:p.Lys303Gln",
        "hgvsWellDefined": "XP_006724730.1:p.Lys303Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075649"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1454,
          "referenceAllele": "A",
          "start": 1453
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_006724668.2:c.1186A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724731.1:p.Lys396Gln",
        "hgvsWellDefined": "XP_006724731.1:p.Lys396Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075650"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1454,
          "referenceAllele": "A",
          "start": 1453
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XR_938400.1:n.1454A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS133098"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573170030",
      "coordinates": [
        {
          "allele": "C",
          "end": 1401,
          "referenceAllele": "A",
          "start": 1400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_000489.5:c.1186A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000480.3:p.Lys396Gln",
        "hgvsWellDefined": "NP_000480.3:p.Lys396Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510800"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1398,
          "referenceAllele": "A",
          "start": 1397
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262153.5:c.1183A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262210.2:p.Lys395Gln",
        "hgvsWellDefined": "XP_005262210.2:p.Lys395Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535419"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1411,
          "referenceAllele": "A",
          "start": 1410
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262154.5:c.1186A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262211.2:p.Lys396Gln",
        "hgvsWellDefined": "XP_005262211.2:p.Lys396Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535420"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1555,
          "referenceAllele": "A",
          "start": 1554
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262155.4:c.1069A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262212.2:p.Lys357Gln",
        "hgvsWellDefined": "XP_005262212.2:p.Lys357Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535421"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1307,
          "referenceAllele": "A",
          "start": 1306
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262156.4:c.1021A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262213.2:p.Lys341Gln",
        "hgvsWellDefined": "XP_005262213.2:p.Lys341Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535422"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1294,
          "referenceAllele": "A",
          "start": 1293
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262157.5:c.1069A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262214.2:p.Lys357Gln",
        "hgvsWellDefined": "XP_005262214.2:p.Lys357Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535423"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1294,
          "referenceAllele": "A",
          "start": 1293
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_006724666.4:c.1069A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724729.1:p.Lys357Gln",
        "hgvsWellDefined": "XP_006724729.1:p.Lys357Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541034"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1193,
          "referenceAllele": "A",
          "start": 1192
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_006724667.3:c.907A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724730.1:p.Lys303Gln",
        "hgvsWellDefined": "XP_006724730.1:p.Lys303Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541035"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1411,
          "referenceAllele": "A",
          "start": 1410
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_006724668.3:c.1186A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724731.1:p.Lys396Gln",
        "hgvsWellDefined": "XP_006724731.1:p.Lys396Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541036"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1408,
          "referenceAllele": "A",
          "start": 1407
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029601.2:c.1183A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885090.1:p.Lys395Gln",
        "hgvsWellDefined": "XP_016885090.1:p.Lys395Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579117"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1535,
          "referenceAllele": "A",
          "start": 1534
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029602.1:c.1066A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885091.1:p.Lys356Gln",
        "hgvsWellDefined": "XP_016885091.1:p.Lys356Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579118"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1304,
          "referenceAllele": "A",
          "start": 1303
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029603.1:c.1018A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885092.1:p.Lys340Gln",
        "hgvsWellDefined": "XP_016885092.1:p.Lys340Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579119"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1297,
          "referenceAllele": "A",
          "start": 1296
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029604.2:c.1072A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885093.1:p.Lys358Gln",
        "hgvsWellDefined": "XP_016885093.1:p.Lys358Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579120"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1555,
          "referenceAllele": "A",
          "start": 1554
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029605.1:c.1069A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885094.1:p.Lys357Gln",
        "hgvsWellDefined": "XP_016885094.1:p.Lys357Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579121"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1428,
          "referenceAllele": "A",
          "start": 1427
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029606.2:c.955A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885095.1:p.Lys319Gln",
        "hgvsWellDefined": "XP_016885095.1:p.Lys319Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579122"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1421,
          "referenceAllele": "A",
          "start": 1420
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029607.2:c.952A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885096.1:p.Lys318Gln",
        "hgvsWellDefined": "XP_016885096.1:p.Lys318Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579123"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1112,
          "referenceAllele": "A",
          "start": 1111
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029608.2:c.904A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885097.1:p.Lys302Gln",
        "hgvsWellDefined": "XP_016885097.1:p.Lys302Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579124"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1441,
          "referenceAllele": "A",
          "start": 1440
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029609.1:c.955A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885098.1:p.Lys319Gln",
        "hgvsWellDefined": "XP_016885098.1:p.Lys319Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579125"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1438,
          "referenceAllele": "A",
          "start": 1437
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029610.1:c.952A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885099.1:p.Lys318Gln",
        "hgvsWellDefined": "XP_016885099.1:p.Lys318Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579126"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1193,
          "referenceAllele": "A",
          "start": 1192
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029611.1:c.907A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885100.1:p.Lys303Gln",
        "hgvsWellDefined": "XP_016885100.1:p.Lys303Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579127"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1411,
          "referenceAllele": "A",
          "start": 1410
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XR_001755700.2:n.1411A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS601333"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830248879",
      "coordinates": [
        {
          "allele": "C",
          "end": 1287,
          "referenceAllele": "A",
          "start": 1286
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_138270.4:c.1072A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_612114.2:p.Lys358Gln",
        "hgvsWellDefined": "NP_612114.2:p.Lys358Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699696"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573170030",
      "coordinates": [
        {
          "allele": "C",
          "end": 1401,
          "referenceAllele": "A",
          "start": 1400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_000489.6:c.1186A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000480.3:p.Lys396Gln",
        "hgvsWellDefined": "NP_000480.3:p.Lys396Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710838",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000373344.11:c.1186A>C"
          },
          "RefSeq": {
            "hgvs": "NM_000489.6:c.1186A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000362441.4:p.Lys396Gln"
          },
          "RefSeq": {
            "hgvs": "NP_000480.3:p.Lys396Gln"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830248879",
      "coordinates": [
        {
          "allele": "C",
          "end": 1287,
          "referenceAllele": "A",
          "start": 1286
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_138270.5:c.1072A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_612114.2:p.Lys358Gln",
        "hgvsWellDefined": "NP_612114.2:p.Lys358Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729130"
    }
  ],
  "type": "nucleotide"
}