{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA413704061",
  "communityStandardTitle": [
    "NM_000489.6(ATRX):c.4950G>C (p.Lys1650Asn)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.76889060C>G?assembly=hg19",
        "id": "chrX:g.76889060C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.77633572C>G?assembly=hg38",
        "id": "chrX:g.77633572C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/122445095",
        "rs": 122445095
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 77633572,
          "referenceAllele": "C",
          "start": 77633571
        }
      ],
      "hgvs": [
        "NC_000023.11:g.77633572C>G",
        "CM000685.2:g.77633572C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 76889060,
          "referenceAllele": "C",
          "start": 76889059
        }
      ],
      "hgvs": [
        "NC_000023.10:g.76889060C>G",
        "CM000685.1:g.76889060C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 76775716,
          "referenceAllele": "C",
          "start": 76775715
        }
      ],
      "hgvs": [
        "NC_000023.9:g.76775716C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 157650,
          "referenceAllele": "G",
          "start": 157649
        }
      ],
      "hgvs": [
        "NG_008838.2:g.157650G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001233"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 157698,
          "referenceAllele": "G",
          "start": 157697
        }
      ],
      "hgvs": [
        "NG_008838.3:g.157698G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616114"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5165,
          "referenceAllele": "G",
          "start": 5164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000373344.11:c.4950G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362441.4:p.Lys1650Asn",
        "hgvsWellDefined": "ENSP00000362441.4:p.Lys1650Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751211",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000373344.11:c.4950G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000489.6:c.4950G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000362441.4:p.Lys1650Asn"
          },
          "RefSeq": {
            "hgvs": "NP_000480.3:p.Lys1650Asn"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 680,
          "referenceAllele": "G",
          "start": 679
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000675732.1:c.48G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502598.1:p.Lys16Asn",
        "hgvsWellDefined": "ENSP00000502598.1:p.Lys16Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775511"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 685,
          "referenceAllele": "G",
          "start": 684
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000675908.1:n.685G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775668"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5218,
          "referenceAllele": "G",
          "start": 5217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000373344.9:c.4950G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362441.4:p.Lys1650Asn",
        "hgvsWellDefined": "ENSP00000362441.4:p.Lys1650Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269638"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5051,
          "referenceAllele": "G",
          "start": 5050
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000395603.7:c.4836G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378967.3:p.Lys1612Asn",
        "hgvsWellDefined": "ENSP00000378967.3:p.Lys1612Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276784"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5288,
          "referenceAllele": "G",
          "start": 5287
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000480283.5:c.*4578G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480196.1:n.*4578G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS320467"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 687,
          "referenceAllele": "G",
          "start": 686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000623242.3:c.687G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS406030"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 294,
          "referenceAllele": "G",
          "start": 293
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "ENST00000624403.1:n.294G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS406320"
    },
    {
      "@id": "http://reg.genome.network/allele/PA256024",
      "coordinates": [
        {
          "allele": "C",
          "end": 5218,
          "referenceAllele": "G",
          "start": 5217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_000489.4:c.4950G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000480.3:p.Lys1650Asn",
        "hgvsWellDefined": "NP_000480.3:p.Lys1650Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006543"
    },
    {
      "@id": "http://reg.genome.network/allele/PA256023",
      "coordinates": [
        {
          "allele": "C",
          "end": 5104,
          "referenceAllele": "G",
          "start": 5103
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_138270.3:c.4836G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_612114.2:p.Lys1612Asn",
        "hgvsWellDefined": "NP_612114.2:p.Lys1612Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040611"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5215,
          "referenceAllele": "G",
          "start": 5214
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262153.3:c.4947G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262210.2:p.Lys1649Asn",
        "hgvsWellDefined": "XP_005262210.2:p.Lys1649Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063345"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5131,
          "referenceAllele": "G",
          "start": 5130
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262154.3:c.4863G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262211.2:p.Lys1621Asn",
        "hgvsWellDefined": "XP_005262211.2:p.Lys1621Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063346"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5319,
          "referenceAllele": "G",
          "start": 5318
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262155.3:c.4833G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262212.2:p.Lys1611Asn",
        "hgvsWellDefined": "XP_005262212.2:p.Lys1611Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063347"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5056,
          "referenceAllele": "G",
          "start": 5055
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262156.3:c.4785G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262213.2:p.Lys1595Asn",
        "hgvsWellDefined": "XP_005262213.2:p.Lys1595Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063348"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5014,
          "referenceAllele": "G",
          "start": 5013
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262157.3:c.4746G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262214.2:p.Lys1582Asn",
        "hgvsWellDefined": "XP_005262214.2:p.Lys1582Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063349"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5101,
          "referenceAllele": "G",
          "start": 5100
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_006724666.2:c.4833G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724729.1:p.Lys1611Asn",
        "hgvsWellDefined": "XP_006724729.1:p.Lys1611Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075648"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4939,
          "referenceAllele": "G",
          "start": 4938
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_006724667.2:c.4671G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724730.1:p.Lys1557Asn",
        "hgvsWellDefined": "XP_006724730.1:p.Lys1557Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075649"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5218,
          "referenceAllele": "G",
          "start": 5217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_006724668.2:c.4950G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724731.1:p.Lys1650Asn",
        "hgvsWellDefined": "XP_006724731.1:p.Lys1650Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075650"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5218,
          "referenceAllele": "G",
          "start": 5217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XR_938400.1:n.5218G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS133098"
    },
    {
      "@id": "http://reg.genome.network/allele/PA256024",
      "coordinates": [
        {
          "allele": "C",
          "end": 5165,
          "referenceAllele": "G",
          "start": 5164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_000489.5:c.4950G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000480.3:p.Lys1650Asn",
        "hgvsWellDefined": "NP_000480.3:p.Lys1650Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510800"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5162,
          "referenceAllele": "G",
          "start": 5161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262153.5:c.4947G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262210.2:p.Lys1649Asn",
        "hgvsWellDefined": "XP_005262210.2:p.Lys1649Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535419"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5088,
          "referenceAllele": "G",
          "start": 5087
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262154.5:c.4863G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262211.2:p.Lys1621Asn",
        "hgvsWellDefined": "XP_005262211.2:p.Lys1621Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535420"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5319,
          "referenceAllele": "G",
          "start": 5318
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262155.4:c.4833G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262212.2:p.Lys1611Asn",
        "hgvsWellDefined": "XP_005262212.2:p.Lys1611Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535421"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5071,
          "referenceAllele": "G",
          "start": 5070
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262156.4:c.4785G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262213.2:p.Lys1595Asn",
        "hgvsWellDefined": "XP_005262213.2:p.Lys1595Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535422"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4971,
          "referenceAllele": "G",
          "start": 4970
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_005262157.5:c.4746G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262214.2:p.Lys1582Asn",
        "hgvsWellDefined": "XP_005262214.2:p.Lys1582Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535423"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5058,
          "referenceAllele": "G",
          "start": 5057
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_006724666.4:c.4833G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724729.1:p.Lys1611Asn",
        "hgvsWellDefined": "XP_006724729.1:p.Lys1611Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541034"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4957,
          "referenceAllele": "G",
          "start": 4956
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_006724667.3:c.4671G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724730.1:p.Lys1557Asn",
        "hgvsWellDefined": "XP_006724730.1:p.Lys1557Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541035"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5175,
          "referenceAllele": "G",
          "start": 5174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_006724668.3:c.4950G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724731.1:p.Lys1650Asn",
        "hgvsWellDefined": "XP_006724731.1:p.Lys1650Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541036"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5085,
          "referenceAllele": "G",
          "start": 5084
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029601.2:c.4860G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885090.1:p.Lys1620Asn",
        "hgvsWellDefined": "XP_016885090.1:p.Lys1620Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579117"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5299,
          "referenceAllele": "G",
          "start": 5298
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029602.1:c.4830G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885091.1:p.Lys1610Asn",
        "hgvsWellDefined": "XP_016885091.1:p.Lys1610Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579118"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5068,
          "referenceAllele": "G",
          "start": 5067
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029603.1:c.4782G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885092.1:p.Lys1594Asn",
        "hgvsWellDefined": "XP_016885092.1:p.Lys1594Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579119"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4974,
          "referenceAllele": "G",
          "start": 4973
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029604.2:c.4749G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885093.1:p.Lys1583Asn",
        "hgvsWellDefined": "XP_016885093.1:p.Lys1583Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579120"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5232,
          "referenceAllele": "G",
          "start": 5231
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029605.1:c.4746G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885094.1:p.Lys1582Asn",
        "hgvsWellDefined": "XP_016885094.1:p.Lys1582Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579121"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5192,
          "referenceAllele": "G",
          "start": 5191
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029606.2:c.4719G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885095.1:p.Lys1573Asn",
        "hgvsWellDefined": "XP_016885095.1:p.Lys1573Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579122"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5185,
          "referenceAllele": "G",
          "start": 5184
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029607.2:c.4716G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885096.1:p.Lys1572Asn",
        "hgvsWellDefined": "XP_016885096.1:p.Lys1572Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579123"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4876,
          "referenceAllele": "G",
          "start": 4875
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029608.2:c.4668G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885097.1:p.Lys1556Asn",
        "hgvsWellDefined": "XP_016885097.1:p.Lys1556Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579124"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5118,
          "referenceAllele": "G",
          "start": 5117
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029609.1:c.4632G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885098.1:p.Lys1544Asn",
        "hgvsWellDefined": "XP_016885098.1:p.Lys1544Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579125"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5115,
          "referenceAllele": "G",
          "start": 5114
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029610.1:c.4629G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885099.1:p.Lys1543Asn",
        "hgvsWellDefined": "XP_016885099.1:p.Lys1543Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579126"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4870,
          "referenceAllele": "G",
          "start": 4869
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XM_017029611.1:c.4584G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885100.1:p.Lys1528Asn",
        "hgvsWellDefined": "XP_016885100.1:p.Lys1528Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579127"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5175,
          "referenceAllele": "G",
          "start": 5174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "XR_001755700.2:n.5175G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS601333"
    },
    {
      "@id": "http://reg.genome.network/allele/PA256023",
      "coordinates": [
        {
          "allele": "C",
          "end": 5051,
          "referenceAllele": "G",
          "start": 5050
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_138270.4:c.4836G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_612114.2:p.Lys1612Asn",
        "hgvsWellDefined": "NP_612114.2:p.Lys1612Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699696"
    },
    {
      "@id": "http://reg.genome.network/allele/PA256024",
      "coordinates": [
        {
          "allele": "C",
          "end": 5165,
          "referenceAllele": "G",
          "start": 5164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_000489.6:c.4950G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000480.3:p.Lys1650Asn",
        "hgvsWellDefined": "NP_000480.3:p.Lys1650Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710838",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000373344.11:c.4950G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000489.6:c.4950G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000362441.4:p.Lys1650Asn"
          },
          "RefSeq": {
            "hgvs": "NP_000480.3:p.Lys1650Asn"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA256023",
      "coordinates": [
        {
          "allele": "C",
          "end": 5051,
          "referenceAllele": "G",
          "start": 5050
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_138270.5:c.4836G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_612114.2:p.Lys1612Asn",
        "hgvsWellDefined": "NP_612114.2:p.Lys1612Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729130"
    }
  ],
  "type": "nucleotide"
}