{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10457842",
  "communityStandardTitle": [
    "NM_000489.6(ATRX):c.4130A>G (p.Glu1377Gly)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=269077[alleleid]",
        "alleleId": 269077,
        "preferredName": "NM_000489.6(ATRX):c.4130A>G (p.Glu1377Gly)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/284840",
        "RCV": [
          "RCV000271653",
          "RCV002055056",
          "RCV002317813",
          "RCV003224252",
          "RCV001510472"
        ],
        "variationId": 284840
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/X-76912134-T-C",
        "id": "X-76912134-T-C",
        "variant": "X:76912134 T / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.76912134T>C?assembly=hg19",
        "id": "chrX:g.76912134T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.77656644T>C?assembly=hg38",
        "id": "chrX:g.77656644T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/782553301",
        "rs": 782553301
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-76912134-T-C?dataset=gnomad_r2_1",
        "id": "X-76912134-T-C",
        "variant": "X:76912134 T / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-77656644-T-C?dataset=gnomad_r3",
        "id": "X-77656644-T-C",
        "variant": "X:77656644 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-77656644-T-C?dataset=gnomad_r4",
        "id": "X-77656644-T-C",
        "variant": "X:77656644 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 77656644,
          "referenceAllele": "T",
          "start": 77656643
        }
      ],
      "hgvs": [
        "NC_000023.11:g.77656644T>C",
        "CM000685.2:g.77656644T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 76912134,
          "referenceAllele": "T",
          "start": 76912133
        }
      ],
      "hgvs": [
        "NC_000023.10:g.76912134T>C",
        "CM000685.1:g.76912134T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 76798790,
          "referenceAllele": "T",
          "start": 76798789
        }
      ],
      "hgvs": [
        "NC_000023.9:g.76798790T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 134578,
          "referenceAllele": "A",
          "start": 134577
        }
      ],
      "hgvs": [
        "NG_008838.2:g.134578A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001233"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 134626,
          "referenceAllele": "A",
          "start": 134625
        }
      ],
      "hgvs": [
        "NG_008838.3:g.134626A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616114"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4345,
          "referenceAllele": "A",
          "start": 4344
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000373344.11:c.4130A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362441.4:p.Glu1377Gly",
        "hgvsWellDefined": "ENSP00000362441.4:p.Glu1377Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751211",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000373344.11:c.4130A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000489.6:c.4130A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000362441.4:p.Glu1377Gly"
          },
          "RefSeq": {
            "hgvs": "NP_000480.3:p.Glu1377Gly"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4398,
          "referenceAllele": "A",
          "start": 4397
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000373344.9:c.4130A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362441.4:p.Glu1377Gly",
        "hgvsWellDefined": "ENSP00000362441.4:p.Glu1377Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269638"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4231,
          "referenceAllele": "A",
          "start": 4230
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000395603.7:c.4016A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378967.3:p.Glu1339Gly",
        "hgvsWellDefined": "ENSP00000378967.3:p.Glu1339Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276784"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4468,
          "referenceAllele": "A",
          "start": 4467
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000480283.5:c.*3758A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480196.1:n.*3758A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS320467"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4145,
          "referenceAllele": "A",
          "start": 4144
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000624166.3:c.3926A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000485103.1:p.Glu1309Gly",
        "hgvsWellDefined": "ENSP00000485103.1:p.Glu1309Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS406266"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645384601",
      "coordinates": [
        {
          "allele": "G",
          "end": 4398,
          "referenceAllele": "A",
          "start": 4397
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_000489.4:c.4130A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000480.3:p.Glu1377Gly",
        "hgvsWellDefined": "NP_000480.3:p.Glu1377Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006543"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830249772",
      "coordinates": [
        {
          "allele": "G",
          "end": 4284,
          "referenceAllele": "A",
          "start": 4283
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_138270.3:c.4016A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_612114.2:p.Glu1339Gly",
        "hgvsWellDefined": "NP_612114.2:p.Glu1339Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040611"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4395,
          "referenceAllele": "A",
          "start": 4394
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262153.3:c.4127A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262210.2:p.Glu1376Gly",
        "hgvsWellDefined": "XP_005262210.2:p.Glu1376Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063345"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4311,
          "referenceAllele": "A",
          "start": 4310
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262154.3:c.4043A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262211.2:p.Glu1348Gly",
        "hgvsWellDefined": "XP_005262211.2:p.Glu1348Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063346"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4499,
          "referenceAllele": "A",
          "start": 4498
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262155.3:c.4013A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262212.2:p.Glu1338Gly",
        "hgvsWellDefined": "XP_005262212.2:p.Glu1338Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063347"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4236,
          "referenceAllele": "A",
          "start": 4235
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262156.3:c.3965A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262213.2:p.Glu1322Gly",
        "hgvsWellDefined": "XP_005262213.2:p.Glu1322Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063348"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4194,
          "referenceAllele": "A",
          "start": 4193
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262157.3:c.3926A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262214.2:p.Glu1309Gly",
        "hgvsWellDefined": "XP_005262214.2:p.Glu1309Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063349"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4281,
          "referenceAllele": "A",
          "start": 4280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_006724666.2:c.4013A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724729.1:p.Glu1338Gly",
        "hgvsWellDefined": "XP_006724729.1:p.Glu1338Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075648"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4119,
          "referenceAllele": "A",
          "start": 4118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_006724667.2:c.3851A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724730.1:p.Glu1284Gly",
        "hgvsWellDefined": "XP_006724730.1:p.Glu1284Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075649"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4398,
          "referenceAllele": "A",
          "start": 4397
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_006724668.2:c.4130A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724731.1:p.Glu1377Gly",
        "hgvsWellDefined": "XP_006724731.1:p.Glu1377Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075650"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4398,
          "referenceAllele": "A",
          "start": 4397
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XR_938400.1:n.4398A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS133098"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645384601",
      "coordinates": [
        {
          "allele": "G",
          "end": 4345,
          "referenceAllele": "A",
          "start": 4344
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_000489.5:c.4130A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000480.3:p.Glu1377Gly",
        "hgvsWellDefined": "NP_000480.3:p.Glu1377Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510800"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4342,
          "referenceAllele": "A",
          "start": 4341
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262153.5:c.4127A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262210.2:p.Glu1376Gly",
        "hgvsWellDefined": "XP_005262210.2:p.Glu1376Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535419"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4268,
          "referenceAllele": "A",
          "start": 4267
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262154.5:c.4043A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262211.2:p.Glu1348Gly",
        "hgvsWellDefined": "XP_005262211.2:p.Glu1348Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535420"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4499,
          "referenceAllele": "A",
          "start": 4498
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262155.4:c.4013A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262212.2:p.Glu1338Gly",
        "hgvsWellDefined": "XP_005262212.2:p.Glu1338Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535421"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4251,
          "referenceAllele": "A",
          "start": 4250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262156.4:c.3965A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262213.2:p.Glu1322Gly",
        "hgvsWellDefined": "XP_005262213.2:p.Glu1322Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535422"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4151,
          "referenceAllele": "A",
          "start": 4150
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262157.5:c.3926A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262214.2:p.Glu1309Gly",
        "hgvsWellDefined": "XP_005262214.2:p.Glu1309Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535423"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4238,
          "referenceAllele": "A",
          "start": 4237
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_006724666.4:c.4013A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724729.1:p.Glu1338Gly",
        "hgvsWellDefined": "XP_006724729.1:p.Glu1338Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541034"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4137,
          "referenceAllele": "A",
          "start": 4136
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_006724667.3:c.3851A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724730.1:p.Glu1284Gly",
        "hgvsWellDefined": "XP_006724730.1:p.Glu1284Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541035"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4355,
          "referenceAllele": "A",
          "start": 4354
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_006724668.3:c.4130A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724731.1:p.Glu1377Gly",
        "hgvsWellDefined": "XP_006724731.1:p.Glu1377Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541036"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4265,
          "referenceAllele": "A",
          "start": 4264
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029601.2:c.4040A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885090.1:p.Glu1347Gly",
        "hgvsWellDefined": "XP_016885090.1:p.Glu1347Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579117"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4479,
          "referenceAllele": "A",
          "start": 4478
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029602.1:c.4010A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885091.1:p.Glu1337Gly",
        "hgvsWellDefined": "XP_016885091.1:p.Glu1337Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579118"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4248,
          "referenceAllele": "A",
          "start": 4247
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029603.1:c.3962A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885092.1:p.Glu1321Gly",
        "hgvsWellDefined": "XP_016885092.1:p.Glu1321Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579119"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4154,
          "referenceAllele": "A",
          "start": 4153
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029604.2:c.3929A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885093.1:p.Glu1310Gly",
        "hgvsWellDefined": "XP_016885093.1:p.Glu1310Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579120"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4412,
          "referenceAllele": "A",
          "start": 4411
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029605.1:c.3926A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885094.1:p.Glu1309Gly",
        "hgvsWellDefined": "XP_016885094.1:p.Glu1309Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579121"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4372,
          "referenceAllele": "A",
          "start": 4371
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029606.2:c.3899A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885095.1:p.Glu1300Gly",
        "hgvsWellDefined": "XP_016885095.1:p.Glu1300Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579122"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4365,
          "referenceAllele": "A",
          "start": 4364
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029607.2:c.3896A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885096.1:p.Glu1299Gly",
        "hgvsWellDefined": "XP_016885096.1:p.Glu1299Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579123"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4056,
          "referenceAllele": "A",
          "start": 4055
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029608.2:c.3848A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885097.1:p.Glu1283Gly",
        "hgvsWellDefined": "XP_016885097.1:p.Glu1283Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579124"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4298,
          "referenceAllele": "A",
          "start": 4297
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029609.1:c.3812A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885098.1:p.Glu1271Gly",
        "hgvsWellDefined": "XP_016885098.1:p.Glu1271Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579125"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4295,
          "referenceAllele": "A",
          "start": 4294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029610.1:c.3809A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885099.1:p.Glu1270Gly",
        "hgvsWellDefined": "XP_016885099.1:p.Glu1270Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579126"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4050,
          "referenceAllele": "A",
          "start": 4049
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029611.1:c.3764A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885100.1:p.Glu1255Gly",
        "hgvsWellDefined": "XP_016885100.1:p.Glu1255Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579127"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4355,
          "referenceAllele": "A",
          "start": 4354
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XR_001755700.2:n.4355A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS601333"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830249772",
      "coordinates": [
        {
          "allele": "G",
          "end": 4231,
          "referenceAllele": "A",
          "start": 4230
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_138270.4:c.4016A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_612114.2:p.Glu1339Gly",
        "hgvsWellDefined": "NP_612114.2:p.Glu1339Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699696"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645384601",
      "coordinates": [
        {
          "allele": "G",
          "end": 4345,
          "referenceAllele": "A",
          "start": 4344
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_000489.6:c.4130A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000480.3:p.Glu1377Gly",
        "hgvsWellDefined": "NP_000480.3:p.Glu1377Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710838",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000373344.11:c.4130A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000489.6:c.4130A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000362441.4:p.Glu1377Gly"
          },
          "RefSeq": {
            "hgvs": "NP_000480.3:p.Glu1377Gly"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830249772",
      "coordinates": [
        {
          "allele": "G",
          "end": 4231,
          "referenceAllele": "A",
          "start": 4230
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_138270.5:c.4016A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_612114.2:p.Glu1339Gly",
        "hgvsWellDefined": "NP_612114.2:p.Glu1339Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729130"
    }
  ],
  "type": "nucleotide"
}