{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2340592968",
  "communityStandardTitle": [
    "NM_025129.5(FUZ):c.1060G= (p.Asp354=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/139365610",
        "rs": 139365610
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "C",
          "end": 49807348,
          "referenceAllele": "C",
          "start": 49807347
        }
      ],
      "hgvs": [
        "NC_000019.10:g.49807348C=",
        "CM000681.2:g.49807348C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "C",
          "end": 50310605,
          "referenceAllele": "C",
          "start": 50310604
        }
      ],
      "hgvs": [
        "NC_000019.9:g.50310605C=",
        "CM000681.1:g.50310605C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "C",
          "end": 55002417,
          "referenceAllele": "C",
          "start": 55002416
        }
      ],
      "hgvs": [
        "NC_000019.8:g.55002417C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 10963,
          "referenceAllele": "G",
          "start": 10962
        }
      ],
      "hgvs": [
        "NG_032843.1:g.10963G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005236"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1246,
          "referenceAllele": "G",
          "start": 1245
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026219",
      "geneNCBI_id": 80199,
      "geneSymbol": "FUZ",
      "hgvs": [
        "ENST00000313777.9:c.1060G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000313309.4:p.Asp354="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745884",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000313777.9:c.1060G="
          },
          "RefSeq": {
            "hgvs": "NM_025129.5:c.1060G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000313309.4:p.Asp354="
          },
          "RefSeq": {
            "hgvs": "NP_079405.2:p.Asp354="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1224,
          "referenceAllele": "G",
          "start": 1223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026219",
      "geneNCBI_id": 80199,
      "geneSymbol": "FUZ",
      "hgvs": [
        "ENST00000313777.8:c.1060G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000313309.4:p.Asp354="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256868"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1204,
          "referenceAllele": "G",
          "start": 1203
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026219",
      "geneNCBI_id": 80199,
      "geneSymbol": "FUZ",
      "hgvs": [
        "ENST00000377092.8:c.*800G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000366296.5:n.*800G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271460"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1059,
          "referenceAllele": "G",
          "start": 1058
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026219",
      "geneNCBI_id": 80199,
      "geneSymbol": "FUZ",
      "hgvs": [
        "ENST00000525130.5:c.*714G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000433492.1:n.*714G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS351199"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1028,
          "referenceAllele": "G",
          "start": 1027
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026219",
      "geneNCBI_id": 80199,
      "geneSymbol": "FUZ",
      "hgvs": [
        "ENST00000525370.5:c.*717G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000431420.1:n.*717G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS351407"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1021,
          "referenceAllele": "G",
          "start": 1020
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026219",
      "geneNCBI_id": 80199,
      "geneSymbol": "FUZ",
      "hgvs": [
        "ENST00000528094.5:c.952G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435177.1:p.Asp318="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS353684"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 216,
          "referenceAllele": "G",
          "start": 215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026219",
      "geneNCBI_id": 80199,
      "geneSymbol": "FUZ",
      "hgvs": [
        "ENST00000529634.2:c.216G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS355006"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1066,
          "referenceAllele": "G",
          "start": 1065
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026219",
      "geneNCBI_id": 80199,
      "geneSymbol": "FUZ",
      "hgvs": [
        "ENST00000533418.5:c.910G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000431731.1:p.Asp304="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS358196"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1156,
          "referenceAllele": "G",
          "start": 1155
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026219",
      "geneNCBI_id": 80199,
      "geneSymbol": "FUZ",
      "hgvs": [
        "NM_001171937.1:c.952G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001165408.1:p.Asp318="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015398"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3085881465",
      "coordinates": [
        {
          "allele": "G",
          "end": 1264,
          "referenceAllele": "G",
          "start": 1263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026219",
      "geneNCBI_id": 80199,
      "geneSymbol": "FUZ",
      "hgvs": [
        "NM_025129.4:c.1060G="
      ],
      "proteinEffect": {
        "hgvs": "NP_079405.2:p.Asp354="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS038214"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1179,
          "referenceAllele": "G",
          "start": 1178
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026219",
      "geneNCBI_id": 80199,
      "geneSymbol": "FUZ",
      "hgvs": [
        "NR_033269.1:n.1179G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS048938"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1287,
          "referenceAllele": "G",
          "start": 1286
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026219",
      "geneNCBI_id": 80199,
      "geneSymbol": "FUZ",
      "hgvs": [
        "XM_006723399.2:c.*46G="
      ],
      "proteinEffect": {
        "hgvs": "XP_006723462.1:n.*46G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075035"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1245,
          "referenceAllele": "G",
          "start": 1244
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026219",
      "geneNCBI_id": 80199,
      "geneSymbol": "FUZ",
      "hgvs": [
        "XM_011527339.1:c.1063G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011525641.1:p.Asp355="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094433"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1107,
          "referenceAllele": "G",
          "start": 1106
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026219",
      "geneNCBI_id": 80199,
      "geneSymbol": "FUZ",
      "hgvs": [
        "XM_011527340.1:c.913G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011525642.1:p.Asp305="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094434"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1175,
          "referenceAllele": "G",
          "start": 1174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026219",
      "geneNCBI_id": 80199,
      "geneSymbol": "FUZ",
      "hgvs": [
        "XM_011527341.1:c.913G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011525643.1:p.Asp305="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094435"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1394,
          "referenceAllele": "G",
          "start": 1393
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026219",
      "geneNCBI_id": 80199,
      "geneSymbol": "FUZ",
      "hgvs": [
        "XM_011527342.1:c.892G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011525644.1:p.Asp298="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094436"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1290,
          "referenceAllele": "G",
          "start": 1289
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026219",
      "geneNCBI_id": 80199,
      "geneSymbol": "FUZ",
      "hgvs": [
        "XM_011527343.1:c.*46G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011525645.1:n.*46G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094437"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1047,
          "referenceAllele": "G",
          "start": 1046
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026219",
      "geneNCBI_id": 80199,
      "geneSymbol": "FUZ",
      "hgvs": [
        "XM_011527344.1:c.865G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011525646.1:p.Asp289="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094438"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1203,
          "referenceAllele": "G",
          "start": 1202
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026219",
      "geneNCBI_id": 80199,
      "geneSymbol": "FUZ",
      "hgvs": [
        "XM_011527345.1:c.763G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011525647.1:p.Asp255="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094439"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1121,
          "referenceAllele": "G",
          "start": 1120
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026219",
      "geneNCBI_id": 80199,
      "geneSymbol": "FUZ",
      "hgvs": [
        "XM_011527346.1:c.763G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011525648.1:p.Asp255="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094440"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1161,
          "referenceAllele": "G",
          "start": 1160
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026219",
      "geneNCBI_id": 80199,
      "geneSymbol": "FUZ",
      "hgvs": [
        "XM_011527347.1:c.763G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011525649.1:p.Asp255="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094441"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1428,
          "referenceAllele": "G",
          "start": 1427
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026219",
      "geneNCBI_id": 80199,
      "geneSymbol": "FUZ",
      "hgvs": [
        "XR_935862.1:n.1428G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS131077"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1267,
          "referenceAllele": "G",
          "start": 1266
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026219",
      "geneNCBI_id": 80199,
      "geneSymbol": "FUZ",
      "hgvs": [
        "NM_001352262.1:c.1063G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001339191.1:p.Asp355="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS520738"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1109,
          "referenceAllele": "G",
          "start": 1108
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026219",
      "geneNCBI_id": 80199,
      "geneSymbol": "FUZ",
      "hgvs": [
        "NM_001363663.1:c.910G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001350592.1:p.Asp304="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523458"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1287,
          "referenceAllele": "G",
          "start": 1286
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026219",
      "geneNCBI_id": 80199,
      "geneSymbol": "FUZ",
      "hgvs": [
        "XM_006723399.3:c.*46G="
      ],
      "proteinEffect": {
        "hgvs": "XP_006723462.1:n.*46G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540758"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1171,
          "referenceAllele": "G",
          "start": 1170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026219",
      "geneNCBI_id": 80199,
      "geneSymbol": "FUZ",
      "hgvs": [
        "XM_011527341.2:c.913G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011525643.1:p.Asp305="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548631"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1413,
          "referenceAllele": "G",
          "start": 1412
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026219",
      "geneNCBI_id": 80199,
      "geneSymbol": "FUZ",
      "hgvs": [
        "XM_011527342.2:c.892G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011525644.1:p.Asp298="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548632"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1118,
          "referenceAllele": "G",
          "start": 1117
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026219",
      "geneNCBI_id": 80199,
      "geneSymbol": "FUZ",
      "hgvs": [
        "XM_017027321.1:c.760G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016882810.1:p.Asp254="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS577290"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1149,
          "referenceAllele": "G",
          "start": 1148
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026219",
      "geneNCBI_id": 80199,
      "geneSymbol": "FUZ",
      "hgvs": [
        "XM_017027322.2:c.*46G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016882811.1:n.*46G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS577291"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1317,
          "referenceAllele": "G",
          "start": 1316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026219",
      "geneNCBI_id": 80199,
      "geneSymbol": "FUZ",
      "hgvs": [
        "XM_024451729.1:c.892G="
      ],
      "proteinEffect": {
        "hgvs": "XP_024307497.1:p.Asp298="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585239"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1410,
          "referenceAllele": "G",
          "start": 1409
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026219",
      "geneNCBI_id": 80199,
      "geneSymbol": "FUZ",
      "hgvs": [
        "XM_024451730.1:c.889G="
      ],
      "proteinEffect": {
        "hgvs": "XP_024307498.1:p.Asp297="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585240"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1835,
          "referenceAllele": "G",
          "start": 1834
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026219",
      "geneNCBI_id": 80199,
      "geneSymbol": "FUZ",
      "hgvs": [
        "XR_001753764.1:n.1835G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS600221"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1135,
          "referenceAllele": "G",
          "start": 1134
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026219",
      "geneNCBI_id": 80199,
      "geneSymbol": "FUZ",
      "hgvs": [
        "XR_001753765.1:n.1135G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS600222"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2086,
          "referenceAllele": "G",
          "start": 2085
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026219",
      "geneNCBI_id": 80199,
      "geneSymbol": "FUZ",
      "hgvs": [
        "XR_002958363.1:n.2086G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS604488"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1832,
          "referenceAllele": "G",
          "start": 1831
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026219",
      "geneNCBI_id": 80199,
      "geneSymbol": "FUZ",
      "hgvs": [
        "XR_002958364.1:n.1832G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS604489"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1725,
          "referenceAllele": "G",
          "start": 1724
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026219",
      "geneNCBI_id": 80199,
      "geneSymbol": "FUZ",
      "hgvs": [
        "XR_002958365.1:n.1725G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS604490"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1138,
          "referenceAllele": "G",
          "start": 1137
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026219",
      "geneNCBI_id": 80199,
      "geneSymbol": "FUZ",
      "hgvs": [
        "NM_001171937.2:c.952G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001165408.1:p.Asp318="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678725"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1249,
          "referenceAllele": "G",
          "start": 1248
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026219",
      "geneNCBI_id": 80199,
      "geneSymbol": "FUZ",
      "hgvs": [
        "NM_001352262.2:c.1063G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001339191.1:p.Asp355="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689130"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3085881465",
      "coordinates": [
        {
          "allele": "G",
          "end": 1246,
          "referenceAllele": "G",
          "start": 1245
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026219",
      "geneNCBI_id": 80199,
      "geneSymbol": "FUZ",
      "hgvs": [
        "NM_025129.5:c.1060G="
      ],
      "proteinEffect": {
        "hgvs": "NP_079405.2:p.Asp354="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698818",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000313777.9:c.1060G="
          },
          "RefSeq": {
            "hgvs": "NM_025129.5:c.1060G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000313309.4:p.Asp354="
          },
          "RefSeq": {
            "hgvs": "NP_079405.2:p.Asp354="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1161,
          "referenceAllele": "G",
          "start": 1160
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026219",
      "geneNCBI_id": 80199,
      "geneSymbol": "FUZ",
      "hgvs": [
        "NR_033269.2:n.1161G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702107"
    }
  ],
  "type": "nucleotide"
}