{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10457941",
  "communityStandardTitle": [
    "NM_000489.6(ATRX):c.3538A>G (p.Ile1180Val)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=574019[alleleid]",
        "alleleId": 574019,
        "preferredName": "NM_000489.6(ATRX):c.3538A>G (p.Ile1180Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/571021",
        "RCV": [
          "RCV000692042",
          "RCV003144514"
        ],
        "variationId": 571021
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/X-76937210-T-C",
        "id": "X-76937210-T-C",
        "variant": "X:76937210 T / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.76937210T>C?assembly=hg19",
        "id": "chrX:g.76937210T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.77681718T>C?assembly=hg38",
        "id": "chrX:g.77681718T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/782554626",
        "rs": 782554626
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-76937210-T-C?dataset=gnomad_r2_1",
        "id": "X-76937210-T-C",
        "variant": "X:76937210 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-77681718-T-C?dataset=gnomad_r4",
        "id": "X-77681718-T-C",
        "variant": "X:77681718 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 77681718,
          "referenceAllele": "T",
          "start": 77681717
        }
      ],
      "hgvs": [
        "NC_000023.11:g.77681718T>C",
        "CM000685.2:g.77681718T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 76937210,
          "referenceAllele": "T",
          "start": 76937209
        }
      ],
      "hgvs": [
        "NC_000023.10:g.76937210T>C",
        "CM000685.1:g.76937210T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 76823866,
          "referenceAllele": "T",
          "start": 76823865
        }
      ],
      "hgvs": [
        "NC_000023.9:g.76823866T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 109504,
          "referenceAllele": "A",
          "start": 109503
        }
      ],
      "hgvs": [
        "NG_008838.2:g.109504A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001233"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 109552,
          "referenceAllele": "A",
          "start": 109551
        }
      ],
      "hgvs": [
        "NG_008838.3:g.109552A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616114"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3753,
          "referenceAllele": "A",
          "start": 3752
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000373344.11:c.3538A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362441.4:p.Ile1180Val",
        "hgvsWellDefined": "ENSP00000362441.4:p.Ile1180Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751211",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000373344.11:c.3538A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000489.6:c.3538A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000362441.4:p.Ile1180Val"
          },
          "RefSeq": {
            "hgvs": "NP_000480.3:p.Ile1180Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3806,
          "referenceAllele": "A",
          "start": 3805
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000373344.9:c.3538A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362441.4:p.Ile1180Val",
        "hgvsWellDefined": "ENSP00000362441.4:p.Ile1180Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269638"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3639,
          "referenceAllele": "A",
          "start": 3638
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000395603.7:c.3424A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378967.3:p.Ile1142Val",
        "hgvsWellDefined": "ENSP00000378967.3:p.Ile1142Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276784"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3876,
          "referenceAllele": "A",
          "start": 3875
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000480283.5:c.*3166A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480196.1:n.*3166A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS320467"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 424,
          "referenceAllele": "A",
          "start": 423
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000493470.2:c.424A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000485408.1:p.Ile142Val",
        "hgvsWellDefined": "ENSP00000485408.1:p.Ile142Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS330614"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3553,
          "referenceAllele": "A",
          "start": 3552
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000624166.3:c.3334A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000485103.1:p.Ile1112Val",
        "hgvsWellDefined": "ENSP00000485103.1:p.Ile1112Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS406266"
    },
    {
      "@id": "http://reg.genome.network/allele/PA891848547",
      "coordinates": [
        {
          "allele": "G",
          "end": 3806,
          "referenceAllele": "A",
          "start": 3805
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_000489.4:c.3538A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000480.3:p.Ile1180Val",
        "hgvsWellDefined": "NP_000480.3:p.Ile1180Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006543"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830249622",
      "coordinates": [
        {
          "allele": "G",
          "end": 3692,
          "referenceAllele": "A",
          "start": 3691
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_138270.3:c.3424A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_612114.2:p.Ile1142Val",
        "hgvsWellDefined": "NP_612114.2:p.Ile1142Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040611"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3803,
          "referenceAllele": "A",
          "start": 3802
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262153.3:c.3535A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262210.2:p.Ile1179Val",
        "hgvsWellDefined": "XP_005262210.2:p.Ile1179Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063345"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3719,
          "referenceAllele": "A",
          "start": 3718
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262154.3:c.3451A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262211.2:p.Ile1151Val",
        "hgvsWellDefined": "XP_005262211.2:p.Ile1151Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063346"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3907,
          "referenceAllele": "A",
          "start": 3906
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262155.3:c.3421A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262212.2:p.Ile1141Val",
        "hgvsWellDefined": "XP_005262212.2:p.Ile1141Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063347"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3644,
          "referenceAllele": "A",
          "start": 3643
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262156.3:c.3373A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262213.2:p.Ile1125Val",
        "hgvsWellDefined": "XP_005262213.2:p.Ile1125Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063348"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3602,
          "referenceAllele": "A",
          "start": 3601
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262157.3:c.3334A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262214.2:p.Ile1112Val",
        "hgvsWellDefined": "XP_005262214.2:p.Ile1112Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063349"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3689,
          "referenceAllele": "A",
          "start": 3688
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_006724666.2:c.3421A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724729.1:p.Ile1141Val",
        "hgvsWellDefined": "XP_006724729.1:p.Ile1141Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075648"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3527,
          "referenceAllele": "A",
          "start": 3526
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_006724667.2:c.3259A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724730.1:p.Ile1087Val",
        "hgvsWellDefined": "XP_006724730.1:p.Ile1087Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075649"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3806,
          "referenceAllele": "A",
          "start": 3805
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_006724668.2:c.3538A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724731.1:p.Ile1180Val",
        "hgvsWellDefined": "XP_006724731.1:p.Ile1180Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075650"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3806,
          "referenceAllele": "A",
          "start": 3805
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XR_938400.1:n.3806A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS133098"
    },
    {
      "@id": "http://reg.genome.network/allele/PA891848547",
      "coordinates": [
        {
          "allele": "G",
          "end": 3753,
          "referenceAllele": "A",
          "start": 3752
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_000489.5:c.3538A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000480.3:p.Ile1180Val",
        "hgvsWellDefined": "NP_000480.3:p.Ile1180Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510800"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3750,
          "referenceAllele": "A",
          "start": 3749
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262153.5:c.3535A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262210.2:p.Ile1179Val",
        "hgvsWellDefined": "XP_005262210.2:p.Ile1179Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535419"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3676,
          "referenceAllele": "A",
          "start": 3675
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262154.5:c.3451A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262211.2:p.Ile1151Val",
        "hgvsWellDefined": "XP_005262211.2:p.Ile1151Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535420"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3907,
          "referenceAllele": "A",
          "start": 3906
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262155.4:c.3421A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262212.2:p.Ile1141Val",
        "hgvsWellDefined": "XP_005262212.2:p.Ile1141Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535421"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3659,
          "referenceAllele": "A",
          "start": 3658
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262156.4:c.3373A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262213.2:p.Ile1125Val",
        "hgvsWellDefined": "XP_005262213.2:p.Ile1125Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535422"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3559,
          "referenceAllele": "A",
          "start": 3558
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262157.5:c.3334A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262214.2:p.Ile1112Val",
        "hgvsWellDefined": "XP_005262214.2:p.Ile1112Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535423"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3646,
          "referenceAllele": "A",
          "start": 3645
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_006724666.4:c.3421A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724729.1:p.Ile1141Val",
        "hgvsWellDefined": "XP_006724729.1:p.Ile1141Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541034"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3545,
          "referenceAllele": "A",
          "start": 3544
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_006724667.3:c.3259A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724730.1:p.Ile1087Val",
        "hgvsWellDefined": "XP_006724730.1:p.Ile1087Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541035"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3763,
          "referenceAllele": "A",
          "start": 3762
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_006724668.3:c.3538A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724731.1:p.Ile1180Val",
        "hgvsWellDefined": "XP_006724731.1:p.Ile1180Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541036"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3673,
          "referenceAllele": "A",
          "start": 3672
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029601.2:c.3448A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885090.1:p.Ile1150Val",
        "hgvsWellDefined": "XP_016885090.1:p.Ile1150Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579117"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3887,
          "referenceAllele": "A",
          "start": 3886
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029602.1:c.3418A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885091.1:p.Ile1140Val",
        "hgvsWellDefined": "XP_016885091.1:p.Ile1140Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579118"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3656,
          "referenceAllele": "A",
          "start": 3655
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029603.1:c.3370A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885092.1:p.Ile1124Val",
        "hgvsWellDefined": "XP_016885092.1:p.Ile1124Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579119"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3562,
          "referenceAllele": "A",
          "start": 3561
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029604.2:c.3337A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885093.1:p.Ile1113Val",
        "hgvsWellDefined": "XP_016885093.1:p.Ile1113Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579120"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3820,
          "referenceAllele": "A",
          "start": 3819
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029605.1:c.3334A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885094.1:p.Ile1112Val",
        "hgvsWellDefined": "XP_016885094.1:p.Ile1112Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579121"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3780,
          "referenceAllele": "A",
          "start": 3779
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029606.2:c.3307A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885095.1:p.Ile1103Val",
        "hgvsWellDefined": "XP_016885095.1:p.Ile1103Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579122"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3773,
          "referenceAllele": "A",
          "start": 3772
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029607.2:c.3304A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885096.1:p.Ile1102Val",
        "hgvsWellDefined": "XP_016885096.1:p.Ile1102Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579123"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3464,
          "referenceAllele": "A",
          "start": 3463
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029608.2:c.3256A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885097.1:p.Ile1086Val",
        "hgvsWellDefined": "XP_016885097.1:p.Ile1086Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579124"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3706,
          "referenceAllele": "A",
          "start": 3705
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029609.1:c.3220A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885098.1:p.Ile1074Val",
        "hgvsWellDefined": "XP_016885098.1:p.Ile1074Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579125"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3703,
          "referenceAllele": "A",
          "start": 3702
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029610.1:c.3217A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885099.1:p.Ile1073Val",
        "hgvsWellDefined": "XP_016885099.1:p.Ile1073Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579126"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3458,
          "referenceAllele": "A",
          "start": 3457
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029611.1:c.3172A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885100.1:p.Ile1058Val",
        "hgvsWellDefined": "XP_016885100.1:p.Ile1058Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579127"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3763,
          "referenceAllele": "A",
          "start": 3762
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XR_001755700.2:n.3763A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS601333"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830249622",
      "coordinates": [
        {
          "allele": "G",
          "end": 3639,
          "referenceAllele": "A",
          "start": 3638
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_138270.4:c.3424A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_612114.2:p.Ile1142Val",
        "hgvsWellDefined": "NP_612114.2:p.Ile1142Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699696"
    },
    {
      "@id": "http://reg.genome.network/allele/PA891848547",
      "coordinates": [
        {
          "allele": "G",
          "end": 3753,
          "referenceAllele": "A",
          "start": 3752
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_000489.6:c.3538A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000480.3:p.Ile1180Val",
        "hgvsWellDefined": "NP_000480.3:p.Ile1180Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710838",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000373344.11:c.3538A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000489.6:c.3538A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000362441.4:p.Ile1180Val"
          },
          "RefSeq": {
            "hgvs": "NP_000480.3:p.Ile1180Val"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830249622",
      "coordinates": [
        {
          "allele": "G",
          "end": 3639,
          "referenceAllele": "A",
          "start": 3638
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_138270.5:c.3424A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_612114.2:p.Ile1142Val",
        "hgvsWellDefined": "NP_612114.2:p.Ile1142Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729130"
    }
  ],
  "type": "nucleotide"
}