{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA257443",
  "communityStandardTitle": [
    "NM_004960.4(FUS):c.1562G>A (p.Arg521His)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=31264[alleleid]",
        "alleleId": 31264,
        "preferredName": "NM_004960.4(FUS):c.1562G>A (p.Arg521His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/16225",
        "RCV": [
          "RCV000017612",
          "RCV001851895",
          "RCV003886363"
        ],
        "variationId": 16225
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.31202740G>A?assembly=hg19",
        "id": "chr16:g.31202740G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.31191419G>A?assembly=hg38",
        "id": "chr16:g.31191419G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121909671",
        "rs": 121909671
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-31202740-G-A?dataset=gnomad_r2_1",
        "id": "16-31202740-G-A",
        "variant": "16:31202740 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-31191419-G-A?dataset=gnomad_r4",
        "id": "16-31191419-G-A",
        "variant": "16:31191419 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 31191419,
          "referenceAllele": "G",
          "start": 31191418
        }
      ],
      "hgvs": [
        "NC_000016.10:g.31191419G>A",
        "CM000678.2:g.31191419G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 31202740,
          "referenceAllele": "G",
          "start": 31202739
        }
      ],
      "hgvs": [
        "NC_000016.9:g.31202740G>A",
        "CM000678.1:g.31202740G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 31110241,
          "referenceAllele": "G",
          "start": 31110240
        }
      ],
      "hgvs": [
        "NC_000016.8:g.31110241G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 16288,
          "referenceAllele": "G",
          "start": 16287
        }
      ],
      "hgvs": [
        "NG_012889.2:g.16288G>A",
        "LRG_655:g.16288G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002611"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1638,
          "referenceAllele": "G",
          "start": 1637
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004010",
      "geneNCBI_id": 2521,
      "geneSymbol": "FUS",
      "hgvs": [
        "ENST00000254108.12:c.1562G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000254108.8:p.Arg521His",
        "hgvsWellDefined": "ENSP00000254108.8:p.Arg521His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741640",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000254108.12:c.1562G>A"
          },
          "RefSeq": {
            "hgvs": "NM_004960.4:c.1562G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000254108.8:p.Arg521His"
          },
          "RefSeq": {
            "hgvs": "NP_004951.1:p.Arg521His"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1667,
          "referenceAllele": "G",
          "start": 1666
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004010",
      "geneNCBI_id": 2521,
      "geneSymbol": "FUS",
      "hgvs": [
        "ENST00000254108.11:c.1562G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000254108.7:p.Arg521His",
        "hgvsWellDefined": "ENSP00000254108.7:p.Arg521His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249980"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1635,
          "referenceAllele": "G",
          "start": 1634
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004010",
      "geneNCBI_id": 2521,
      "geneSymbol": "FUS",
      "hgvs": [
        "ENST00000380244.7:c.1559G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369594.3:p.Arg520His",
        "hgvsWellDefined": "ENSP00000369594.3:p.Arg520His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272837"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 639,
          "referenceAllele": "G",
          "start": 638
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004010",
      "geneNCBI_id": 2521,
      "geneSymbol": "FUS",
      "hgvs": [
        "ENST00000483853.1:n.639G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS323237"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4737,
          "referenceAllele": "G",
          "start": 4736
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004010",
      "geneNCBI_id": 2521,
      "geneSymbol": "FUS",
      "hgvs": [
        "ENST00000487509.6:n.4737G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS326064"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1604,
          "referenceAllele": "G",
          "start": 1603
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004010",
      "geneNCBI_id": 2521,
      "geneSymbol": "FUS",
      "hgvs": [
        "ENST00000566605.5:c.*735G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455073.1:n.*735G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS379555"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1629,
          "referenceAllele": "G",
          "start": 1628
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004010",
      "geneNCBI_id": 2521,
      "geneSymbol": "FUS",
      "hgvs": [
        "ENST00000568685.1:c.1565G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455282.1:p.Arg522His",
        "hgvsWellDefined": "ENSP00000455282.1:p.Arg522His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS380963"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 453,
          "referenceAllele": "G",
          "start": 452
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004010",
      "geneNCBI_id": 2521,
      "geneSymbol": "FUS",
      "hgvs": [
        "ENST00000569760.5:n.453G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS381691"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826069544",
      "coordinates": [
        {
          "allele": "A",
          "end": 1664,
          "referenceAllele": "G",
          "start": 1663
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004010",
      "geneNCBI_id": 2521,
      "geneSymbol": "FUS",
      "hgvs": [
        "NM_001170634.1:c.1559G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001164105.1:p.Arg520His",
        "hgvsWellDefined": "NP_001164105.1:p.Arg520His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015188"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826075905",
      "coordinates": [
        {
          "allele": "A",
          "end": 1655,
          "referenceAllele": "G",
          "start": 1654
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004010",
      "geneNCBI_id": 2521,
      "geneSymbol": "FUS",
      "hgvs": [
        "NM_001170937.1:c.1550G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001164408.1:p.Arg517His",
        "hgvsWellDefined": "NP_001164408.1:p.Arg517His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015265"
    },
    {
      "@id": "http://reg.genome.network/allele/PA098571",
      "coordinates": [
        {
          "allele": "A",
          "end": 1667,
          "referenceAllele": "G",
          "start": 1666
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004010",
      "geneNCBI_id": 2521,
      "geneSymbol": "FUS",
      "hgvs": [
        "NM_004960.3:c.1562G>A",
        "LRG_655t1:c.1562G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004951.1:p.Arg521His",
        "hgvsWellDefined": "NP_004951.1:p.Arg521His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030092"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1632,
          "referenceAllele": "G",
          "start": 1631
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004010",
      "geneNCBI_id": 2521,
      "geneSymbol": "FUS",
      "hgvs": [
        "NR_028388.2:n.1632G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS048035"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2035,
          "referenceAllele": "G",
          "start": 2034
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004010",
      "geneNCBI_id": 2521,
      "geneSymbol": "FUS",
      "hgvs": [
        "XM_005255233.3:c.947G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255290.1:p.Arg316His",
        "hgvsWellDefined": "XP_005255290.1:p.Arg316His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060894"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1633,
          "referenceAllele": "G",
          "start": 1632
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004010",
      "geneNCBI_id": 2521,
      "geneSymbol": "FUS",
      "hgvs": [
        "XM_011545781.1:c.1556G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011544083.1:p.Arg519His",
        "hgvsWellDefined": "XP_011544083.1:p.Arg519His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112665"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1078,
          "referenceAllele": "G",
          "start": 1077
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004010",
      "geneNCBI_id": 2521,
      "geneSymbol": "FUS",
      "hgvs": [
        "XM_011545782.1:c.947G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011544084.1:p.Arg316His",
        "hgvsWellDefined": "XP_011544084.1:p.Arg316His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112666"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1584,
          "referenceAllele": "G",
          "start": 1583
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004010",
      "geneNCBI_id": 2521,
      "geneSymbol": "FUS",
      "hgvs": [
        "XM_005255233.5:c.947G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255290.1:p.Arg316His",
        "hgvsWellDefined": "XP_005255290.1:p.Arg316His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534258"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1023,
          "referenceAllele": "G",
          "start": 1022
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004010",
      "geneNCBI_id": 2521,
      "geneSymbol": "FUS",
      "hgvs": [
        "XM_011545782.2:c.947G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011544084.1:p.Arg316His",
        "hgvsWellDefined": "XP_011544084.1:p.Arg316His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556239"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1629,
          "referenceAllele": "G",
          "start": 1628
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004010",
      "geneNCBI_id": 2521,
      "geneSymbol": "FUS",
      "hgvs": [
        "XM_024450221.1:c.1553G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024305989.1:p.Arg518His",
        "hgvsWellDefined": "XP_024305989.1:p.Arg518His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583762"
    },
    {
      "@id": "http://reg.genome.network/allele/PA098571",
      "coordinates": [
        {
          "allele": "A",
          "end": 1638,
          "referenceAllele": "G",
          "start": 1637
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004010",
      "geneNCBI_id": 2521,
      "geneSymbol": "FUS",
      "hgvs": [
        "NM_004960.4:c.1562G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004951.1:p.Arg521His",
        "hgvsWellDefined": "NP_004951.1:p.Arg521His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696285",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000254108.12:c.1562G>A"
          },
          "RefSeq": {
            "hgvs": "NM_004960.4:c.1562G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000254108.8:p.Arg521His"
          },
          "RefSeq": {
            "hgvs": "NP_004951.1:p.Arg521His"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}