{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA396537910",
  "communityStandardTitle": [
    "NM_016373.4(WWOX):c.*268T>G"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.79245961T>G?assembly=hg19",
        "id": "chr16:g.79245961T>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.79212064T>G?assembly=hg38",
        "id": "chr16:g.79212064T>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2288033",
        "rs": 2288033
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-79212064-T-G?dataset=gnomad_r4",
        "id": "16-79212064-T-G",
        "variant": "16:79212064 T / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 79212064,
          "referenceAllele": "T",
          "start": 79212063
        }
      ],
      "hgvs": [
        "NC_000016.10:g.79212064T>G",
        "CM000678.2:g.79212064T>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 79245961,
          "referenceAllele": "T",
          "start": 79245960
        }
      ],
      "hgvs": [
        "NC_000016.9:g.79245961T>G",
        "CM000678.1:g.79245961T>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 77803462,
          "referenceAllele": "T",
          "start": 77803461
        }
      ],
      "hgvs": [
        "NC_000016.8:g.77803462T>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1117411,
          "referenceAllele": "T",
          "start": 1117410
        }
      ],
      "hgvs": [
        "NG_011698.1:g.1117411T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001907"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2110,
          "referenceAllele": "T",
          "start": 2109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012799",
      "geneNCBI_id": 51741,
      "geneSymbol": "WWOX",
      "hgvs": [
        "ENST00000683929.1:c.*627T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507689.1:n.*627T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828895"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1638,
          "referenceAllele": "T",
          "start": 1637
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012799",
      "geneNCBI_id": 51741,
      "geneSymbol": "WWOX",
      "hgvs": [
        "ENST00000566780.6:c.*268T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457230.1:n.*268T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760503",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000566780.6:c.*268T>G"
          },
          "RefSeq": {
            "hgvs": "NM_016373.4:c.*268T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000457230.1:n.*268T>G"
          },
          "RefSeq": {
            "hgvs": "NP_057457.1:n.*268T>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 991,
          "referenceAllele": "T",
          "start": 990
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012799",
      "geneNCBI_id": 51741,
      "geneSymbol": "WWOX",
      "hgvs": [
        "ENST00000402655.6:c.866T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384238.2:p.Val289Gly",
        "hgvsWellDefined": "ENSP00000384238.2:p.Val289Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279584"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1098,
          "referenceAllele": "T",
          "start": 1097
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012799",
      "geneNCBI_id": 51741,
      "geneSymbol": "WWOX",
      "hgvs": [
        "ENST00000406884.6:c.*268T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384495.2:n.*268T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280763"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1067,
          "referenceAllele": "T",
          "start": 1066
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012799",
      "geneNCBI_id": 51741,
      "geneSymbol": "WWOX",
      "hgvs": [
        "ENST00000539474.6:c.*300T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000445210.2:n.*300T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS361878"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 580,
          "referenceAllele": "T",
          "start": 579
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012799",
      "geneNCBI_id": 51741,
      "geneSymbol": "WWOX",
      "hgvs": [
        "ENST00000566103.1:n.580T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS379192"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1879,
          "referenceAllele": "T",
          "start": 1878
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012799",
      "geneNCBI_id": 51741,
      "geneSymbol": "WWOX",
      "hgvs": [
        "ENST00000566780.5:c.*268T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457230.1:n.*268T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS379680"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1601,
          "referenceAllele": "T",
          "start": 1600
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012799",
      "geneNCBI_id": 51741,
      "geneSymbol": "WWOX",
      "hgvs": [
        "ENST00000569332.5:c.*1310T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454788.1:n.*1310T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS381404"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1814,
          "referenceAllele": "T",
          "start": 1813
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012799",
      "geneNCBI_id": 51741,
      "geneSymbol": "WWOX",
      "hgvs": [
        "NM_001291997.1:c.*268T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278926.1:n.*268T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024427"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1879,
          "referenceAllele": "T",
          "start": 1878
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012799",
      "geneNCBI_id": 51741,
      "geneSymbol": "WWOX",
      "hgvs": [
        "NM_016373.3:c.*268T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_057457.1:n.*268T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS034655"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1734,
          "referenceAllele": "T",
          "start": 1733
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012799",
      "geneNCBI_id": 51741,
      "geneSymbol": "WWOX",
      "hgvs": [
        "XM_011523100.1:c.*268T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521402.1:n.*268T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090240"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1712,
          "referenceAllele": "T",
          "start": 1711
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012799",
      "geneNCBI_id": 51741,
      "geneSymbol": "WWOX",
      "hgvs": [
        "XM_011523103.3:c.*485T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521405.1:n.*485T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546892"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1344,
          "referenceAllele": "T",
          "start": 1343
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012799",
      "geneNCBI_id": 51741,
      "geneSymbol": "WWOX",
      "hgvs": [
        "XM_017023279.1:c.599T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878768.1:p.Val200Gly",
        "hgvsWellDefined": "XP_016878768.1:p.Val200Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574069"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4068,
          "referenceAllele": "A",
          "start": 4067
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006776",
      "geneNCBI_id": 4094,
      "geneSymbol": "MAF",
      "hgvs": [
        "XM_024450279.1:c.*866A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306047.1:n.*866A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583819"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4068,
          "referenceAllele": "A",
          "start": 4067
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006776",
      "geneNCBI_id": 4094,
      "geneSymbol": "MAF",
      "hgvs": [
        "XR_001751902.2:n.4068A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS598690"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4068,
          "referenceAllele": "A",
          "start": 4067
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006776",
      "geneNCBI_id": 4094,
      "geneSymbol": "MAF",
      "hgvs": [
        "XR_002957802.1:n.4068A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS603931"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4068,
          "referenceAllele": "A",
          "start": 4067
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006776",
      "geneNCBI_id": 4094,
      "geneSymbol": "MAF",
      "hgvs": [
        "XR_002957803.1:n.4068A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS603932"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4068,
          "referenceAllele": "A",
          "start": 4067
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006776",
      "geneNCBI_id": 4094,
      "geneSymbol": "MAF",
      "hgvs": [
        "XR_002957804.1:n.4068A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS603933"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1638,
          "referenceAllele": "T",
          "start": 1637
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012799",
      "geneNCBI_id": 51741,
      "geneSymbol": "WWOX",
      "hgvs": [
        "NM_016373.4:c.*268T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_057457.1:n.*268T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS669107",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000566780.6:c.*268T>G"
          },
          "RefSeq": {
            "hgvs": "NM_016373.4:c.*268T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000457230.1:n.*268T>G"
          },
          "RefSeq": {
            "hgvs": "NP_057457.1:n.*268T>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1573,
          "referenceAllele": "T",
          "start": 1572
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012799",
      "geneNCBI_id": 51741,
      "geneSymbol": "WWOX",
      "hgvs": [
        "NM_001291997.2:c.*268T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278926.1:n.*268T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682940"
    }
  ],
  "type": "nucleotide"
}