{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10457375",
  "communityStandardTitle": [
    "NM_000489.6(ATRX):c.7439G>A (p.Arg2480Lys)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=980111[alleleid]",
        "alleleId": 980111,
        "preferredName": "NM_000489.6(ATRX):c.7439G>A (p.Arg2480Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/991719",
        "RCV": [
          "RCV001279979",
          "RCV001776168"
        ],
        "variationId": 991719
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/X-76763869-C-T",
        "id": "X-76763869-C-T",
        "variant": "X:76763869 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.76763869C>T?assembly=hg19",
        "id": "chrX:g.76763869C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.77508391C>T?assembly=hg38",
        "id": "chrX:g.77508391C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/369871569",
        "rs": 369871569
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-76763869-C-T?dataset=gnomad_r2_1",
        "id": "X-76763869-C-T",
        "variant": "X:76763869 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-77508391-C-T?dataset=gnomad_r3",
        "id": "X-77508391-C-T",
        "variant": "X:77508391 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-77508391-C-T?dataset=gnomad_r4",
        "id": "X-77508391-C-T",
        "variant": "X:77508391 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 77508391,
          "referenceAllele": "C",
          "start": 77508390
        }
      ],
      "hgvs": [
        "NC_000023.11:g.77508391C>T",
        "CM000685.2:g.77508391C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 76763869,
          "referenceAllele": "C",
          "start": 76763868
        }
      ],
      "hgvs": [
        "NC_000023.10:g.76763869C>T",
        "CM000685.1:g.76763869C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 76650525,
          "referenceAllele": "C",
          "start": 76650524
        }
      ],
      "hgvs": [
        "NC_000023.9:g.76650525C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 282831,
          "referenceAllele": "G",
          "start": 282830
        }
      ],
      "hgvs": [
        "NG_008838.2:g.282831G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001233"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 282879,
          "referenceAllele": "G",
          "start": 282878
        }
      ],
      "hgvs": [
        "NG_008838.3:g.282879G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616114"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7654,
          "referenceAllele": "G",
          "start": 7653
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000373344.11:c.7439G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362441.4:p.Arg2480Lys",
        "hgvsWellDefined": "ENSP00000362441.4:p.Arg2480Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751211",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000373344.11:c.7439G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000489.6:c.7439G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000362441.4:p.Arg2480Lys"
          },
          "RefSeq": {
            "hgvs": "NP_000480.3:p.Arg2480Lys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3169,
          "referenceAllele": "G",
          "start": 3168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000675732.1:c.2537G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502598.1:p.Arg846Lys",
        "hgvsWellDefined": "ENSP00000502598.1:p.Arg846Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775511"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7707,
          "referenceAllele": "G",
          "start": 7706
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000373344.9:c.7439G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362441.4:p.Arg2480Lys",
        "hgvsWellDefined": "ENSP00000362441.4:p.Arg2480Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269638"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7540,
          "referenceAllele": "G",
          "start": 7539
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000395603.7:c.7325G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378967.3:p.Arg2442Lys",
        "hgvsWellDefined": "ENSP00000378967.3:p.Arg2442Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276784"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7777,
          "referenceAllele": "G",
          "start": 7776
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000480283.5:c.*7067G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480196.1:n.*7067G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS320467"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5759,
          "referenceAllele": "G",
          "start": 5758
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000623706.3:n.5759G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS406150"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139680010",
      "coordinates": [
        {
          "allele": "A",
          "end": 7707,
          "referenceAllele": "G",
          "start": 7706
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_000489.4:c.7439G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000480.3:p.Arg2480Lys",
        "hgvsWellDefined": "NP_000480.3:p.Arg2480Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006543"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830250335",
      "coordinates": [
        {
          "allele": "A",
          "end": 7593,
          "referenceAllele": "G",
          "start": 7592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_138270.3:c.7325G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_612114.2:p.Arg2442Lys",
        "hgvsWellDefined": "NP_612114.2:p.Arg2442Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040611"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7704,
          "referenceAllele": "G",
          "start": 7703
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262153.3:c.7436G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262210.2:p.Arg2479Lys",
        "hgvsWellDefined": "XP_005262210.2:p.Arg2479Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063345"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7620,
          "referenceAllele": "G",
          "start": 7619
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262154.3:c.7352G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262211.2:p.Arg2451Lys",
        "hgvsWellDefined": "XP_005262211.2:p.Arg2451Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063346"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7808,
          "referenceAllele": "G",
          "start": 7807
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262155.3:c.7322G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262212.2:p.Arg2441Lys",
        "hgvsWellDefined": "XP_005262212.2:p.Arg2441Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063347"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7545,
          "referenceAllele": "G",
          "start": 7544
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262156.3:c.7274G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262213.2:p.Arg2425Lys",
        "hgvsWellDefined": "XP_005262213.2:p.Arg2425Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063348"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7503,
          "referenceAllele": "G",
          "start": 7502
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262157.3:c.7235G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262214.2:p.Arg2412Lys",
        "hgvsWellDefined": "XP_005262214.2:p.Arg2412Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063349"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7590,
          "referenceAllele": "G",
          "start": 7589
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_006724666.2:c.7322G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724729.1:p.Arg2441Lys",
        "hgvsWellDefined": "XP_006724729.1:p.Arg2441Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075648"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7428,
          "referenceAllele": "G",
          "start": 7427
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_006724667.2:c.7160G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724730.1:p.Arg2387Lys",
        "hgvsWellDefined": "XP_006724730.1:p.Arg2387Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075649"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9031,
          "referenceAllele": "G",
          "start": 9030
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XR_938400.1:n.9031G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS133098"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139680010",
      "coordinates": [
        {
          "allele": "A",
          "end": 7654,
          "referenceAllele": "G",
          "start": 7653
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_000489.5:c.7439G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000480.3:p.Arg2480Lys",
        "hgvsWellDefined": "NP_000480.3:p.Arg2480Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510800"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7651,
          "referenceAllele": "G",
          "start": 7650
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262153.5:c.7436G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262210.2:p.Arg2479Lys",
        "hgvsWellDefined": "XP_005262210.2:p.Arg2479Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535419"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7577,
          "referenceAllele": "G",
          "start": 7576
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262154.5:c.7352G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262211.2:p.Arg2451Lys",
        "hgvsWellDefined": "XP_005262211.2:p.Arg2451Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535420"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7808,
          "referenceAllele": "G",
          "start": 7807
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262155.4:c.7322G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262212.2:p.Arg2441Lys",
        "hgvsWellDefined": "XP_005262212.2:p.Arg2441Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535421"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7560,
          "referenceAllele": "G",
          "start": 7559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262156.4:c.7274G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262213.2:p.Arg2425Lys",
        "hgvsWellDefined": "XP_005262213.2:p.Arg2425Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535422"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7460,
          "referenceAllele": "G",
          "start": 7459
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262157.5:c.7235G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262214.2:p.Arg2412Lys",
        "hgvsWellDefined": "XP_005262214.2:p.Arg2412Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535423"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7547,
          "referenceAllele": "G",
          "start": 7546
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_006724666.4:c.7322G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724729.1:p.Arg2441Lys",
        "hgvsWellDefined": "XP_006724729.1:p.Arg2441Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541034"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7446,
          "referenceAllele": "G",
          "start": 7445
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_006724667.3:c.7160G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724730.1:p.Arg2387Lys",
        "hgvsWellDefined": "XP_006724730.1:p.Arg2387Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541035"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7574,
          "referenceAllele": "G",
          "start": 7573
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029601.2:c.7349G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885090.1:p.Arg2450Lys",
        "hgvsWellDefined": "XP_016885090.1:p.Arg2450Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579117"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7788,
          "referenceAllele": "G",
          "start": 7787
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029602.1:c.7319G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885091.1:p.Arg2440Lys",
        "hgvsWellDefined": "XP_016885091.1:p.Arg2440Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579118"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7557,
          "referenceAllele": "G",
          "start": 7556
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029603.1:c.7271G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885092.1:p.Arg2424Lys",
        "hgvsWellDefined": "XP_016885092.1:p.Arg2424Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579119"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7463,
          "referenceAllele": "G",
          "start": 7462
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029604.2:c.7238G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885093.1:p.Arg2413Lys",
        "hgvsWellDefined": "XP_016885093.1:p.Arg2413Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579120"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7721,
          "referenceAllele": "G",
          "start": 7720
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029605.1:c.7235G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885094.1:p.Arg2412Lys",
        "hgvsWellDefined": "XP_016885094.1:p.Arg2412Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579121"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7681,
          "referenceAllele": "G",
          "start": 7680
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029606.2:c.7208G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885095.1:p.Arg2403Lys",
        "hgvsWellDefined": "XP_016885095.1:p.Arg2403Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579122"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7674,
          "referenceAllele": "G",
          "start": 7673
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029607.2:c.7205G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885096.1:p.Arg2402Lys",
        "hgvsWellDefined": "XP_016885096.1:p.Arg2402Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579123"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7365,
          "referenceAllele": "G",
          "start": 7364
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029608.2:c.7157G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885097.1:p.Arg2386Lys",
        "hgvsWellDefined": "XP_016885097.1:p.Arg2386Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579124"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7607,
          "referenceAllele": "G",
          "start": 7606
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029609.1:c.7121G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885098.1:p.Arg2374Lys",
        "hgvsWellDefined": "XP_016885098.1:p.Arg2374Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579125"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7604,
          "referenceAllele": "G",
          "start": 7603
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029610.1:c.7118G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885099.1:p.Arg2373Lys",
        "hgvsWellDefined": "XP_016885099.1:p.Arg2373Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579126"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7359,
          "referenceAllele": "G",
          "start": 7358
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029611.1:c.7073G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885100.1:p.Arg2358Lys",
        "hgvsWellDefined": "XP_016885100.1:p.Arg2358Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579127"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7738,
          "referenceAllele": "G",
          "start": 7737
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XR_001755700.2:n.7738G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS601333"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830250335",
      "coordinates": [
        {
          "allele": "A",
          "end": 7540,
          "referenceAllele": "G",
          "start": 7539
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_138270.4:c.7325G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_612114.2:p.Arg2442Lys",
        "hgvsWellDefined": "NP_612114.2:p.Arg2442Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699696"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139680010",
      "coordinates": [
        {
          "allele": "A",
          "end": 7654,
          "referenceAllele": "G",
          "start": 7653
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_000489.6:c.7439G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000480.3:p.Arg2480Lys",
        "hgvsWellDefined": "NP_000480.3:p.Arg2480Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710838",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000373344.11:c.7439G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000489.6:c.7439G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000362441.4:p.Arg2480Lys"
          },
          "RefSeq": {
            "hgvs": "NP_000480.3:p.Arg2480Lys"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830250335",
      "coordinates": [
        {
          "allele": "A",
          "end": 7540,
          "referenceAllele": "G",
          "start": 7539
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_138270.5:c.7325G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_612114.2:p.Arg2442Lys",
        "hgvsWellDefined": "NP_612114.2:p.Arg2442Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729130"
    }
  ],
  "type": "nucleotide"
}