{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10457403",
  "communityStandardTitle": [
    "NM_000489.6(ATRX):c.7201-4A>G"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=491357[alleleid]",
        "alleleId": 491357,
        "preferredName": "NM_000489.6(ATRX):c.7201-4A>G"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/499933",
        "RCV": [
          "RCV000592827",
          "RCV001086132",
          "RCV002275064"
        ],
        "variationId": 499933
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/X-76764111-T-C",
        "id": "X-76764111-T-C",
        "variant": "X:76764111 T / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.76764111T>C?assembly=hg19",
        "id": "chrX:g.76764111T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.77508633T>C?assembly=hg38",
        "id": "chrX:g.77508633T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/782317502",
        "rs": 782317502
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-76764111-T-C?dataset=gnomad_r2_1",
        "id": "X-76764111-T-C",
        "variant": "X:76764111 T / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-77508633-T-C?dataset=gnomad_r3",
        "id": "X-77508633-T-C",
        "variant": "X:77508633 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-77508633-T-C?dataset=gnomad_r4",
        "id": "X-77508633-T-C",
        "variant": "X:77508633 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 77508633,
          "referenceAllele": "T",
          "start": 77508632
        }
      ],
      "hgvs": [
        "NC_000023.11:g.77508633T>C",
        "CM000685.2:g.77508633T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 76764111,
          "referenceAllele": "T",
          "start": 76764110
        }
      ],
      "hgvs": [
        "NC_000023.10:g.76764111T>C",
        "CM000685.1:g.76764111T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 76650767,
          "referenceAllele": "T",
          "start": 76650766
        }
      ],
      "hgvs": [
        "NC_000023.9:g.76650767T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 282589,
          "referenceAllele": "A",
          "start": 282588
        }
      ],
      "hgvs": [
        "NG_008838.2:g.282589A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001233"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 282637,
          "referenceAllele": "A",
          "start": 282636
        }
      ],
      "hgvs": [
        "NG_008838.3:g.282637A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616114"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7415,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 7415,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000373344.11:c.7201-4A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362441.4:n.7201-4A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751211",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000373344.11:c.7201-4A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000489.6:c.7201-4A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000362441.4:n.7201-4A>G"
          },
          "RefSeq": {
            "hgvs": "NP_000480.3:n.7201-4A>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2930,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 2930,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000675732.1:c.2299-4A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502598.1:n.2299-4A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775511"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7468,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 7468,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000373344.9:c.7201-4A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362441.4:n.7201-4A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269638"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7301,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 7301,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000395603.7:c.7087-4A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378967.3:n.7087-4A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276784"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7538,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 7538,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000480283.5:c.*6829-4A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480196.1:n.*6829-4A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS320467"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5520,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 5520,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000623706.3:n.5521-4A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS406150"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 431,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 431,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000624766.1:n.432-4A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS406421"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7468,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 7468,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_000489.4:c.7201-4A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000480.3:n.7201-4A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006543"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7354,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 7354,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_138270.3:c.7087-4A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_612114.2:n.7087-4A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040611"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7465,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 7465,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262153.3:c.7198-4A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262210.2:n.7198-4A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063345"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7381,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 7381,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262154.3:c.7114-4A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262211.2:n.7114-4A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063346"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7569,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 7569,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262155.3:c.7084-4A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262212.2:n.7084-4A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063347"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7306,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 7306,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262156.3:c.7036-4A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262213.2:n.7036-4A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063348"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7264,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 7264,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262157.3:c.6997-4A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262214.2:n.6997-4A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063349"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7351,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 7351,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_006724666.2:c.7084-4A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724729.1:n.7084-4A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075648"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7189,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 7189,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_006724667.2:c.6922-4A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724730.1:n.6922-4A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075649"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8792,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 8792,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XR_938400.1:n.8793-4A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS133098"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7415,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 7415,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_000489.5:c.7201-4A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000480.3:n.7201-4A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510800"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7412,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 7412,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262153.5:c.7198-4A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262210.2:n.7198-4A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535419"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7338,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 7338,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262154.5:c.7114-4A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262211.2:n.7114-4A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535420"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7569,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 7569,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262155.4:c.7084-4A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262212.2:n.7084-4A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535421"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7321,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 7321,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262156.4:c.7036-4A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262213.2:n.7036-4A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535422"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7221,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 7221,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262157.5:c.6997-4A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262214.2:n.6997-4A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535423"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7308,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 7308,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_006724666.4:c.7084-4A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724729.1:n.7084-4A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541034"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7207,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 7207,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_006724667.3:c.6922-4A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724730.1:n.6922-4A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541035"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7335,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 7335,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029601.2:c.7111-4A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885090.1:n.7111-4A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579117"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7549,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 7549,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029602.1:c.7081-4A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885091.1:n.7081-4A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579118"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7318,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 7318,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029603.1:c.7033-4A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885092.1:n.7033-4A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579119"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7224,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 7224,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029604.2:c.7000-4A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885093.1:n.7000-4A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579120"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7482,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 7482,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029605.1:c.6997-4A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885094.1:n.6997-4A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579121"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7442,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 7442,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029606.2:c.6970-4A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885095.1:n.6970-4A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579122"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7435,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 7435,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029607.2:c.6967-4A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885096.1:n.6967-4A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579123"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7126,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 7126,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029608.2:c.6919-4A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885097.1:n.6919-4A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579124"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7368,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 7368,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029609.1:c.6883-4A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885098.1:n.6883-4A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579125"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7365,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 7365,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029610.1:c.6880-4A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885099.1:n.6880-4A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579126"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7120,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 7120,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029611.1:c.6835-4A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885100.1:n.6835-4A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579127"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7499,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 7499,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XR_001755700.2:n.7500-4A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS601333"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7301,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 7301,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_138270.4:c.7087-4A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_612114.2:n.7087-4A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699696"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7415,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 7415,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_000489.6:c.7201-4A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000480.3:n.7201-4A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710838",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000373344.11:c.7201-4A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000489.6:c.7201-4A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000362441.4:n.7201-4A>G"
          },
          "RefSeq": {
            "hgvs": "NP_000480.3:n.7201-4A>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7301,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 7301,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_138270.5:c.7087-4A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_612114.2:n.7087-4A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729130"
    }
  ],
  "type": "nucleotide"
}