{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16621509",
  "communityStandardTitle": [
    "NM_000489.6(ATRX):c.278A>T (p.Asp93Val)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=411493[alleleid]",
        "alleleId": 411493,
        "preferredName": "NM_000489.6(ATRX):c.278A>T (p.Asp93Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/424057",
        "RCV": [
          "RCV000479685",
          "RCV001247873"
        ],
        "variationId": 424057
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.76952157T>A?assembly=hg19",
        "id": "chrX:g.76952157T>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.77696669T>A?assembly=hg38",
        "id": "chrX:g.77696669T>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1064796774",
        "rs": 1064796774
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-76952157-T-A?dataset=gnomad_r2_1",
        "id": "X-76952157-T-A",
        "variant": "X:76952157 T / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-77696669-T-A?dataset=gnomad_r4",
        "id": "X-77696669-T-A",
        "variant": "X:77696669 T / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 77696669,
          "referenceAllele": "T",
          "start": 77696668
        }
      ],
      "hgvs": [
        "NC_000023.11:g.77696669T>A",
        "CM000685.2:g.77696669T>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 76952157,
          "referenceAllele": "T",
          "start": 76952156
        }
      ],
      "hgvs": [
        "NC_000023.10:g.76952157T>A",
        "CM000685.1:g.76952157T>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 76838813,
          "referenceAllele": "T",
          "start": 76838812
        }
      ],
      "hgvs": [
        "NC_000023.9:g.76838813T>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 94553,
          "referenceAllele": "A",
          "start": 94552
        }
      ],
      "hgvs": [
        "NG_008838.2:g.94553A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001233"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 94601,
          "referenceAllele": "A",
          "start": 94600
        }
      ],
      "hgvs": [
        "NG_008838.3:g.94601A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616114"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 493,
          "referenceAllele": "A",
          "start": 492
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000373344.11:c.278A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362441.4:p.Asp93Val",
        "hgvsWellDefined": "ENSP00000362441.4:p.Asp93Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751211",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000373344.11:c.278A>T"
          },
          "RefSeq": {
            "hgvs": "NM_000489.6:c.278A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000362441.4:p.Asp93Val"
          },
          "RefSeq": {
            "hgvs": "NP_000480.3:p.Asp93Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 546,
          "referenceAllele": "A",
          "start": 545
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000373344.9:c.278A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362441.4:p.Asp93Val",
        "hgvsWellDefined": "ENSP00000362441.4:p.Asp93Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269638"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 493,
          "referenceAllele": "A",
          "start": 492
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000395603.7:c.278A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378967.3:p.Asp93Val",
        "hgvsWellDefined": "ENSP00000378967.3:p.Asp93Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276784"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 493,
          "referenceAllele": "A",
          "start": 492
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000480283.5:c.278A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480196.1:p.Asp93Val",
        "hgvsWellDefined": "ENSP00000480196.1:p.Asp93Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS320467"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 389,
          "referenceAllele": "A",
          "start": 388
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000623321.3:c.113A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000485127.1:p.Asp38Val",
        "hgvsWellDefined": "ENSP00000485127.1:p.Asp38Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS406049"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 485,
          "referenceAllele": "A",
          "start": 484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000624032.3:c.278A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000485253.1:p.Asp93Val",
        "hgvsWellDefined": "ENSP00000485253.1:p.Asp93Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS406233"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 497,
          "referenceAllele": "A",
          "start": 496
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000624166.3:c.278A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000485103.1:p.Asp93Val",
        "hgvsWellDefined": "ENSP00000485103.1:p.Asp93Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS406266"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 372,
          "referenceAllele": "A",
          "start": 371
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000624668.3:c.113A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000485100.1:p.Asp38Val",
        "hgvsWellDefined": "ENSP00000485100.1:p.Asp38Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS406391"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 96,
          "referenceAllele": "A",
          "start": 95
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000625063.3:c.96A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS406503"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645384329",
      "coordinates": [
        {
          "allele": "T",
          "end": 546,
          "referenceAllele": "A",
          "start": 545
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_000489.4:c.278A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000480.3:p.Asp93Val",
        "hgvsWellDefined": "NP_000480.3:p.Asp93Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006543"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916068482",
      "coordinates": [
        {
          "allele": "T",
          "end": 546,
          "referenceAllele": "A",
          "start": 545
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_138270.3:c.278A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_612114.2:p.Asp93Val",
        "hgvsWellDefined": "NP_612114.2:p.Asp93Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040611"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 546,
          "referenceAllele": "A",
          "start": 545
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262153.3:c.278A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262210.2:p.Asp93Val",
        "hgvsWellDefined": "XP_005262210.2:p.Asp93Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063345"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 546,
          "referenceAllele": "A",
          "start": 545
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262154.3:c.278A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262211.2:p.Asp93Val",
        "hgvsWellDefined": "XP_005262211.2:p.Asp93Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063346"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 647,
          "referenceAllele": "A",
          "start": 646
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262155.3:c.161A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262212.2:p.Asp54Val",
        "hgvsWellDefined": "XP_005262212.2:p.Asp54Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063347"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 384,
          "referenceAllele": "A",
          "start": 383
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262156.3:c.113A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262213.2:p.Asp38Val",
        "hgvsWellDefined": "XP_005262213.2:p.Asp38Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063348"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 546,
          "referenceAllele": "A",
          "start": 545
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262157.3:c.278A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262214.2:p.Asp93Val",
        "hgvsWellDefined": "XP_005262214.2:p.Asp93Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063349"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 546,
          "referenceAllele": "A",
          "start": 545
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_006724666.2:c.278A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724729.1:p.Asp93Val",
        "hgvsWellDefined": "XP_006724729.1:p.Asp93Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075648"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 381,
          "referenceAllele": "A",
          "start": 380
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_006724667.2:c.113A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724730.1:p.Asp38Val",
        "hgvsWellDefined": "XP_006724730.1:p.Asp38Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075649"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 546,
          "referenceAllele": "A",
          "start": 545
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_006724668.2:c.278A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724731.1:p.Asp93Val",
        "hgvsWellDefined": "XP_006724731.1:p.Asp93Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075650"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 546,
          "referenceAllele": "A",
          "start": 545
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XR_938400.1:n.546A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS133098"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645384329",
      "coordinates": [
        {
          "allele": "T",
          "end": 493,
          "referenceAllele": "A",
          "start": 492
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_000489.5:c.278A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000480.3:p.Asp93Val",
        "hgvsWellDefined": "NP_000480.3:p.Asp93Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510800"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 493,
          "referenceAllele": "A",
          "start": 492
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262153.5:c.278A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262210.2:p.Asp93Val",
        "hgvsWellDefined": "XP_005262210.2:p.Asp93Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535419"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 503,
          "referenceAllele": "A",
          "start": 502
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262154.5:c.278A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262211.2:p.Asp93Val",
        "hgvsWellDefined": "XP_005262211.2:p.Asp93Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535420"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 647,
          "referenceAllele": "A",
          "start": 646
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262155.4:c.161A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262212.2:p.Asp54Val",
        "hgvsWellDefined": "XP_005262212.2:p.Asp54Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535421"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 399,
          "referenceAllele": "A",
          "start": 398
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262156.4:c.113A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262213.2:p.Asp38Val",
        "hgvsWellDefined": "XP_005262213.2:p.Asp38Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535422"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 503,
          "referenceAllele": "A",
          "start": 502
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262157.5:c.278A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262214.2:p.Asp93Val",
        "hgvsWellDefined": "XP_005262214.2:p.Asp93Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535423"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 503,
          "referenceAllele": "A",
          "start": 502
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_006724666.4:c.278A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724729.1:p.Asp93Val",
        "hgvsWellDefined": "XP_006724729.1:p.Asp93Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541034"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 399,
          "referenceAllele": "A",
          "start": 398
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_006724667.3:c.113A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724730.1:p.Asp38Val",
        "hgvsWellDefined": "XP_006724730.1:p.Asp38Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541035"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 503,
          "referenceAllele": "A",
          "start": 502
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_006724668.3:c.278A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724731.1:p.Asp93Val",
        "hgvsWellDefined": "XP_006724731.1:p.Asp93Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541036"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 503,
          "referenceAllele": "A",
          "start": 502
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029601.2:c.278A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885090.1:p.Asp93Val",
        "hgvsWellDefined": "XP_016885090.1:p.Asp93Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579117"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 630,
          "referenceAllele": "A",
          "start": 629
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029602.1:c.161A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885091.1:p.Asp54Val",
        "hgvsWellDefined": "XP_016885091.1:p.Asp54Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579118"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 399,
          "referenceAllele": "A",
          "start": 398
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029603.1:c.113A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885092.1:p.Asp38Val",
        "hgvsWellDefined": "XP_016885092.1:p.Asp38Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579119"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 503,
          "referenceAllele": "A",
          "start": 502
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029604.2:c.278A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885093.1:p.Asp93Val",
        "hgvsWellDefined": "XP_016885093.1:p.Asp93Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579120"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 647,
          "referenceAllele": "A",
          "start": 646
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029605.1:c.161A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885094.1:p.Asp54Val",
        "hgvsWellDefined": "XP_016885094.1:p.Asp54Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579121"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 634,
          "referenceAllele": "A",
          "start": 633
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029606.2:c.161A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885095.1:p.Asp54Val",
        "hgvsWellDefined": "XP_016885095.1:p.Asp54Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579122"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 630,
          "referenceAllele": "A",
          "start": 629
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029607.2:c.161A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885096.1:p.Asp54Val",
        "hgvsWellDefined": "XP_016885096.1:p.Asp54Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579123"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 321,
          "referenceAllele": "A",
          "start": 320
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029608.2:c.113A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885097.1:p.Asp38Val",
        "hgvsWellDefined": "XP_016885097.1:p.Asp38Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579124"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 647,
          "referenceAllele": "A",
          "start": 646
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029609.1:c.161A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885098.1:p.Asp54Val",
        "hgvsWellDefined": "XP_016885098.1:p.Asp54Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579125"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 647,
          "referenceAllele": "A",
          "start": 646
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029610.1:c.161A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885099.1:p.Asp54Val",
        "hgvsWellDefined": "XP_016885099.1:p.Asp54Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579126"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 399,
          "referenceAllele": "A",
          "start": 398
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029611.1:c.113A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885100.1:p.Asp38Val",
        "hgvsWellDefined": "XP_016885100.1:p.Asp38Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579127"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 503,
          "referenceAllele": "A",
          "start": 502
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XR_001755700.2:n.503A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS601333"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916068482",
      "coordinates": [
        {
          "allele": "T",
          "end": 493,
          "referenceAllele": "A",
          "start": 492
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_138270.4:c.278A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_612114.2:p.Asp93Val",
        "hgvsWellDefined": "NP_612114.2:p.Asp93Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699696"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645384329",
      "coordinates": [
        {
          "allele": "T",
          "end": 493,
          "referenceAllele": "A",
          "start": 492
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_000489.6:c.278A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000480.3:p.Asp93Val",
        "hgvsWellDefined": "NP_000480.3:p.Asp93Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710838",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000373344.11:c.278A>T"
          },
          "RefSeq": {
            "hgvs": "NM_000489.6:c.278A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000362441.4:p.Asp93Val"
          },
          "RefSeq": {
            "hgvs": "NP_000480.3:p.Asp93Val"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA916068482",
      "coordinates": [
        {
          "allele": "T",
          "end": 493,
          "referenceAllele": "A",
          "start": 492
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_138270.5:c.278A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_612114.2:p.Asp93Val",
        "hgvsWellDefined": "NP_612114.2:p.Asp93Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729130"
    }
  ],
  "type": "nucleotide"
}