{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA6872021",
  "communityStandardTitle": [
    "NM_032656.4(DHX37):c.1460G>A (p.Arg487His)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5980427",
        "active": true,
        "id": "COSM5980427"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=389152[alleleid]",
        "alleleId": 389152,
        "preferredName": "NM_032656.4(DHX37):c.1460G>A (p.Arg487His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/402138",
        "RCV": [
          "RCV000454335",
          "RCV003333070",
          "RCV003227484"
        ],
        "variationId": 402138
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/12-125451713-C-T",
        "id": "12-125451713-C-T",
        "variant": "12:125451713 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.125451713C>T?assembly=hg19",
        "id": "chr12:g.125451713C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.124967167C>T?assembly=hg38",
        "id": "chr12:g.124967167C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/779613772",
        "rs": 779613772
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-125451713-C-T?dataset=gnomad_r2_1",
        "id": "12-125451713-C-T",
        "variant": "12:125451713 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-124967167-C-T?dataset=gnomad_r3",
        "id": "12-124967167-C-T",
        "variant": "12:124967167 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-124967167-C-T?dataset=gnomad_r4",
        "id": "12-124967167-C-T",
        "variant": "12:124967167 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 124967167,
          "referenceAllele": "C",
          "start": 124967166
        }
      ],
      "hgvs": [
        "NC_000012.12:g.124967167C>T",
        "CM000674.2:g.124967167C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 125451713,
          "referenceAllele": "C",
          "start": 125451712
        }
      ],
      "hgvs": [
        "NC_000012.11:g.125451713C>T",
        "CM000674.1:g.125451713C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 124017666,
          "referenceAllele": "C",
          "start": 124017665
        }
      ],
      "hgvs": [
        "NC_000012.10:g.124017666C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1569,
          "referenceAllele": "G",
          "start": 1568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017210",
      "geneNCBI_id": 57647,
      "geneSymbol": "DHX37",
      "hgvs": [
        "ENST00000308736.7:c.1460G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000311135.2:p.Arg487His",
        "hgvsWellDefined": "ENSP00000311135.2:p.Arg487His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745485",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000308736.7:c.1460G>A"
          },
          "RefSeq": {
            "hgvs": "NM_032656.4:c.1460G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000311135.2:p.Arg487His"
          },
          "RefSeq": {
            "hgvs": "NP_116045.2:p.Arg487His"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 931,
          "referenceAllele": "G",
          "start": 930
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017210",
      "geneNCBI_id": 57647,
      "geneSymbol": "DHX37",
      "hgvs": [
        "ENST00000544745.2:c.931G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS759779"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1532,
          "referenceAllele": "G",
          "start": 1531
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017210",
      "geneNCBI_id": 57647,
      "geneSymbol": "DHX37",
      "hgvs": [
        "ENST00000679875.1:n.1532G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS779497"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1559,
          "referenceAllele": "G",
          "start": 1558
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017210",
      "geneNCBI_id": 57647,
      "geneSymbol": "DHX37",
      "hgvs": [
        "ENST00000308736.6:c.1460G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000311135.2:p.Arg487His",
        "hgvsWellDefined": "ENSP00000311135.2:p.Arg487His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256099"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1560,
          "referenceAllele": "G",
          "start": 1559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017210",
      "geneNCBI_id": 57647,
      "geneSymbol": "DHX37",
      "hgvs": [
        "ENST00000539298.1:n.1560G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS361789"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 931,
          "referenceAllele": "G",
          "start": 930
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017210",
      "geneNCBI_id": 57647,
      "geneSymbol": "DHX37",
      "hgvs": [
        "ENST00000544745.1:c.821G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000439009.1:p.Arg274His",
        "hgvsWellDefined": "ENSP00000439009.1:p.Arg274His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS364727"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645470656",
      "coordinates": [
        {
          "allele": "A",
          "end": 1559,
          "referenceAllele": "G",
          "start": 1558
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017210",
      "geneNCBI_id": 57647,
      "geneSymbol": "DHX37",
      "hgvs": [
        "NM_032656.3:c.1460G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_116045.2:p.Arg487His",
        "hgvsWellDefined": "NP_116045.2:p.Arg487His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039245"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1569,
          "referenceAllele": "G",
          "start": 1568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017210",
      "geneNCBI_id": 57647,
      "geneSymbol": "DHX37",
      "hgvs": [
        "XM_005253590.2:c.1460G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005253647.1:p.Arg487His",
        "hgvsWellDefined": "XP_005253647.1:p.Arg487His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060342"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1569,
          "referenceAllele": "G",
          "start": 1568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017210",
      "geneNCBI_id": 57647,
      "geneSymbol": "DHX37",
      "hgvs": [
        "XM_011538597.1:c.1460G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536899.1:p.Arg487His",
        "hgvsWellDefined": "XP_011536899.1:p.Arg487His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105552"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1569,
          "referenceAllele": "G",
          "start": 1568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017210",
      "geneNCBI_id": 57647,
      "geneSymbol": "DHX37",
      "hgvs": [
        "XM_011538598.1:c.1460G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536900.1:p.Arg487His",
        "hgvsWellDefined": "XP_011536900.1:p.Arg487His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105553"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1569,
          "referenceAllele": "G",
          "start": 1568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017210",
      "geneNCBI_id": 57647,
      "geneSymbol": "DHX37",
      "hgvs": [
        "XM_011538599.1:c.1460G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536901.1:p.Arg487His",
        "hgvsWellDefined": "XP_011536901.1:p.Arg487His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105554"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1569,
          "referenceAllele": "G",
          "start": 1568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017210",
      "geneNCBI_id": 57647,
      "geneSymbol": "DHX37",
      "hgvs": [
        "XM_011538600.1:c.1460G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536902.1:p.Arg487His",
        "hgvsWellDefined": "XP_011536902.1:p.Arg487His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105555"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1563,
          "referenceAllele": "G",
          "start": 1562
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017210",
      "geneNCBI_id": 57647,
      "geneSymbol": "DHX37",
      "hgvs": [
        "XM_005253590.3:c.1460G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005253647.1:p.Arg487His",
        "hgvsWellDefined": "XP_005253647.1:p.Arg487His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533980"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1563,
          "referenceAllele": "G",
          "start": 1562
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017210",
      "geneNCBI_id": 57647,
      "geneSymbol": "DHX37",
      "hgvs": [
        "XM_011538598.2:c.1460G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536900.1:p.Arg487His",
        "hgvsWellDefined": "XP_011536900.1:p.Arg487His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553325"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1563,
          "referenceAllele": "G",
          "start": 1562
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017210",
      "geneNCBI_id": 57647,
      "geneSymbol": "DHX37",
      "hgvs": [
        "XM_011538600.2:c.1460G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536902.1:p.Arg487His",
        "hgvsWellDefined": "XP_011536902.1:p.Arg487His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553326"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1563,
          "referenceAllele": "G",
          "start": 1562
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017210",
      "geneNCBI_id": 57647,
      "geneSymbol": "DHX37",
      "hgvs": [
        "XR_001748819.1:n.1563G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS596762"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1563,
          "referenceAllele": "G",
          "start": 1562
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017210",
      "geneNCBI_id": 57647,
      "geneSymbol": "DHX37",
      "hgvs": [
        "XR_001748820.1:n.1563G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS596763"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645470656",
      "coordinates": [
        {
          "allele": "A",
          "end": 1569,
          "referenceAllele": "G",
          "start": 1568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017210",
      "geneNCBI_id": 57647,
      "geneSymbol": "DHX37",
      "hgvs": [
        "NM_032656.4:c.1460G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_116045.2:p.Arg487His",
        "hgvsWellDefined": "NP_116045.2:p.Arg487His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS671381",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000308736.7:c.1460G>A"
          },
          "RefSeq": {
            "hgvs": "NM_032656.4:c.1460G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000311135.2:p.Arg487His"
          },
          "RefSeq": {
            "hgvs": "NP_116045.2:p.Arg487His"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}