{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA4957539",
  "communityStandardTitle": [
    "NM_203447.4(DOCK8):c.949C>T (p.Arg317Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=264327[alleleid]",
        "alleleId": 264327,
        "preferredName": "NM_203447.4(DOCK8):c.949C>T (p.Arg317Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/279929",
        "RCV": [
          "RCV000398158",
          "RCV002282098",
          "RCV003595907"
        ],
        "variationId": 279929
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/9-328076-C-T",
        "id": "9-328076-C-T",
        "variant": "9:328076 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.328076C>T?assembly=hg19",
        "id": "chr9:g.328076C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.328076C>T?assembly=hg38",
        "id": "chr9:g.328076C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/113432057",
        "rs": 113432057
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-328076-C-T?dataset=gnomad_r2_1",
        "id": "9-328076-C-T",
        "variant": "9:328076 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-328076-C-T?dataset=gnomad_r3",
        "id": "9-328076-C-T",
        "variant": "9:328076 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-328076-C-T?dataset=gnomad_r4",
        "id": "9-328076-C-T",
        "variant": "9:328076 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 328076,
          "referenceAllele": "C",
          "start": 328075
        }
      ],
      "hgvs": [
        "NC_000009.12:g.328076C>T",
        "CM000671.2:g.328076C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 328076,
          "referenceAllele": "C",
          "start": 328075
        }
      ],
      "hgvs": [
        "NC_000009.11:g.328076C>T",
        "CM000671.1:g.328076C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 318076,
          "referenceAllele": "C",
          "start": 318075
        }
      ],
      "hgvs": [
        "NC_000009.10:g.318076C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 118212,
          "referenceAllele": "C",
          "start": 118211
        }
      ],
      "hgvs": [
        "NG_017007.1:g.118212C>T",
        "LRG_196:g.118212C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003365"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1142,
          "referenceAllele": "C",
          "start": 1141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019191",
      "geneNCBI_id": 81704,
      "geneSymbol": "DOCK8",
      "hgvs": [
        "ENST00000382329.2:c.745C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371766.2:p.Arg249Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824413"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 835,
          "referenceAllele": "C",
          "start": 834
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019191",
      "geneNCBI_id": 81704,
      "geneSymbol": "DOCK8",
      "hgvs": [
        "ENST00000483757.6:c.745C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417691.2:p.Arg249Ter",
        "hgvsWellDefined": "ENSP00000417691.2:p.Arg249_Asn503del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825349"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1061,
          "referenceAllele": "C",
          "start": 1060
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019191",
      "geneNCBI_id": 81704,
      "geneSymbol": "DOCK8",
      "hgvs": [
        "ENST00000432829.7:c.949C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000394888.3:p.Arg317Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755428",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000432829.7:c.949C>T"
          },
          "RefSeq": {
            "hgvs": "NM_203447.4:c.949C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000394888.3:p.Arg317Ter"
          },
          "RefSeq": {
            "hgvs": "NP_982272.2:p.Arg317Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 844,
          "referenceAllele": "C",
          "start": 843
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019191",
      "geneNCBI_id": 81704,
      "geneSymbol": "DOCK8",
      "hgvs": [
        "ENST00000382341.5:n.844C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS273709"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1061,
          "referenceAllele": "C",
          "start": 1060
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019191",
      "geneNCBI_id": 81704,
      "geneSymbol": "DOCK8",
      "hgvs": [
        "ENST00000432829.6:c.949C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000394888.3:p.Arg317Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS292259"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 846,
          "referenceAllele": "C",
          "start": 845
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019191",
      "geneNCBI_id": 81704,
      "geneSymbol": "DOCK8",
      "hgvs": [
        "ENST00000453981.5:c.745C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000408464.2:p.Arg249Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS302361"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1058,
          "referenceAllele": "C",
          "start": 1057
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019191",
      "geneNCBI_id": 81704,
      "geneSymbol": "DOCK8",
      "hgvs": [
        "ENST00000454469.6:n.1058C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS302577"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 824,
          "referenceAllele": "C",
          "start": 823
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019191",
      "geneNCBI_id": 81704,
      "geneSymbol": "DOCK8",
      "hgvs": [
        "ENST00000469391.5:c.745C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419438.1:p.Arg249Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS312080"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 835,
          "referenceAllele": "C",
          "start": 834
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019191",
      "geneNCBI_id": 81704,
      "geneSymbol": "DOCK8",
      "hgvs": [
        "ENST00000483757.5:c.745C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417691.1:p.Arg249Ter",
        "hgvsWellDefined": "ENSP00000417691.1:p.Arg249_His502delinsAlaHisThrProSerValAlaAlaSerSerGlnAlaArgSerAlaValPheSerValThrTyrProSerSerAspIleTyrLeuValValLysIleGluLysValLeuGlnGlnGlyGluIleGlyAspCysAlaGluProTyrThrValIleLysGluSerAspGlyGlyLysSerLysGluLysIleGluLysLeuLysLeuGlnAlaGluSerPheCysGlnArgLeuGlyLysTyrArgMetProPheAlaTrpAlaProIleSerLeuSerSerPhePheAsnValSerThrLeuGluArgGluValThrAspValAspSerValValGlyArgSerSerValGlyGluArgArgThrLeuAlaGlnSerArgArgLeuSerGluArgAlaLeuSerLeuGluGluAsnGlyValGlySerAsnPheLysThrSerThrLeuSerValSerSerPhePheLysGlnGluGlyAspArgLeuSerAspGluAspLeuPheLysPheLeuAlaAspTyrLysArgSerSerSerLeuGlnArgArgValLysSerIleProGlyLeuLeuArgLeuGluIleSerThrAlaProGluIleIleAsnCysCysLeuThrProGluMetLeuProValLysProPheProGluAsnArgThrArgProHisLysGluIleLeuGluPheProThrArgGluValTyrValProHisThrValTyrArgGluValPheGlnValSerAlaValAlaHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS323159"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 810,
          "referenceAllele": "C",
          "start": 809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019191",
      "geneNCBI_id": 81704,
      "geneSymbol": "DOCK8",
      "hgvs": [
        "ENST00000495184.5:n.810C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS331939"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1177,
          "referenceAllele": "C",
          "start": 1176
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019191",
      "geneNCBI_id": 81704,
      "geneSymbol": "DOCK8",
      "hgvs": [
        "ENST00000524396.5:c.*912C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000436628.1:n.*912C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS350565"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 846,
          "referenceAllele": "C",
          "start": 845
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019191",
      "geneNCBI_id": 81704,
      "geneSymbol": "DOCK8",
      "hgvs": [
        "NM_001190458.1:c.745C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001177387.1:p.Arg249Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016185"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 846,
          "referenceAllele": "C",
          "start": 845
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019191",
      "geneNCBI_id": 81704,
      "geneSymbol": "DOCK8",
      "hgvs": [
        "NM_001193536.1:c.745C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001180465.1:p.Arg249Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016442"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1061,
          "referenceAllele": "C",
          "start": 1060
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019191",
      "geneNCBI_id": 81704,
      "geneSymbol": "DOCK8",
      "hgvs": [
        "NM_203447.3:c.949C>T",
        "LRG_196t1:c.949C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_982272.2:p.Arg317Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045213"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 896,
          "referenceAllele": "C",
          "start": 895
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019191",
      "geneNCBI_id": 81704,
      "geneSymbol": "DOCK8",
      "hgvs": [
        "XM_011518045.1:c.745C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516347.1:p.Arg249Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085227"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 959,
          "referenceAllele": "C",
          "start": 958
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019191",
      "geneNCBI_id": 81704,
      "geneSymbol": "DOCK8",
      "hgvs": [
        "XM_011518046.1:c.811C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516348.1:p.Arg271Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085228"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1203,
          "referenceAllele": "C",
          "start": 1202
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019191",
      "geneNCBI_id": 81704,
      "geneSymbol": "DOCK8",
      "hgvs": [
        "XM_011518047.1:c.745C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516349.1:p.Arg249Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085229"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 886,
          "referenceAllele": "C",
          "start": 885
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019191",
      "geneNCBI_id": 81704,
      "geneSymbol": "DOCK8",
      "hgvs": [
        "XM_011518048.1:c.745C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516350.1:p.Arg249Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085230"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 917,
          "referenceAllele": "C",
          "start": 916
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019191",
      "geneNCBI_id": 81704,
      "geneSymbol": "DOCK8",
      "hgvs": [
        "XM_011518045.3:c.745C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516347.1:p.Arg249Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544747"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 959,
          "referenceAllele": "C",
          "start": 958
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019191",
      "geneNCBI_id": 81704,
      "geneSymbol": "DOCK8",
      "hgvs": [
        "XM_011518046.2:c.811C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516348.1:p.Arg271Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544748"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1010,
          "referenceAllele": "C",
          "start": 1009
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019191",
      "geneNCBI_id": 81704,
      "geneSymbol": "DOCK8",
      "hgvs": [
        "XM_011518047.3:c.745C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516349.1:p.Arg249Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544749"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 881,
          "referenceAllele": "C",
          "start": 880
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019191",
      "geneNCBI_id": 81704,
      "geneSymbol": "DOCK8",
      "hgvs": [
        "XM_011518048.2:c.745C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516350.1:p.Arg249Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544750"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 916,
          "referenceAllele": "C",
          "start": 915
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019191",
      "geneNCBI_id": 81704,
      "geneSymbol": "DOCK8",
      "hgvs": [
        "XM_017015173.1:c.745C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016870662.1:p.Arg249Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567954"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 996,
          "referenceAllele": "C",
          "start": 995
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019191",
      "geneNCBI_id": 81704,
      "geneSymbol": "DOCK8",
      "hgvs": [
        "XM_017015174.1:c.811C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016870663.1:p.Arg271Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567955"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 848,
          "referenceAllele": "C",
          "start": 847
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019191",
      "geneNCBI_id": 81704,
      "geneSymbol": "DOCK8",
      "hgvs": [
        "NM_001190458.2:c.745C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001177387.1:p.Arg249Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679115"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 848,
          "referenceAllele": "C",
          "start": 847
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019191",
      "geneNCBI_id": 81704,
      "geneSymbol": "DOCK8",
      "hgvs": [
        "NM_001193536.2:c.745C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001180465.1:p.Arg249Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713758"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1061,
          "referenceAllele": "C",
          "start": 1060
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019191",
      "geneNCBI_id": 81704,
      "geneSymbol": "DOCK8",
      "hgvs": [
        "NM_203447.4:c.949C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_982272.2:p.Arg317Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS730068",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000432829.7:c.949C>T"
          },
          "RefSeq": {
            "hgvs": "NM_203447.4:c.949C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000394888.3:p.Arg317Ter"
          },
          "RefSeq": {
            "hgvs": "NP_982272.2:p.Arg317Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}