{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA387224947",
  "communityStandardTitle": [
    "NM_032656.4(DHX37):c.1784C>T (p.Ser595Phe)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=857637[alleleid]",
        "alleleId": 857637,
        "preferredName": "NM_032656.4(DHX37):c.1784C>T (p.Ser595Phe)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/869422",
        "RCV": [
          "RCV001089512"
        ],
        "variationId": 869422
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.125449504G>A?assembly=hg19",
        "id": "chr12:g.125449504G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.124964958G>A?assembly=hg38",
        "id": "chr12:g.124964958G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1954346640",
        "rs": 1954346640
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 124964958,
          "referenceAllele": "G",
          "start": 124964957
        }
      ],
      "hgvs": [
        "NC_000012.12:g.124964958G>A",
        "CM000674.2:g.124964958G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 125449504,
          "referenceAllele": "G",
          "start": 125449503
        }
      ],
      "hgvs": [
        "NC_000012.11:g.125449504G>A",
        "CM000674.1:g.125449504G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 124015457,
          "referenceAllele": "G",
          "start": 124015456
        }
      ],
      "hgvs": [
        "NC_000012.10:g.124015457G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1893,
          "referenceAllele": "C",
          "start": 1892
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017210",
      "geneNCBI_id": 57647,
      "geneSymbol": "DHX37",
      "hgvs": [
        "ENST00000308736.7:c.1784C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000311135.2:p.Ser595Phe",
        "hgvsWellDefined": "ENSP00000311135.2:p.Ser595Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745485",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000308736.7:c.1784C>T"
          },
          "RefSeq": {
            "hgvs": "NM_032656.4:c.1784C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000311135.2:p.Ser595Phe"
          },
          "RefSeq": {
            "hgvs": "NP_116045.2:p.Ser595Phe"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1255,
          "referenceAllele": "C",
          "start": 1254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017210",
      "geneNCBI_id": 57647,
      "geneSymbol": "DHX37",
      "hgvs": [
        "ENST00000544745.2:c.1255C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS759779"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1856,
          "referenceAllele": "C",
          "start": 1855
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017210",
      "geneNCBI_id": 57647,
      "geneSymbol": "DHX37",
      "hgvs": [
        "ENST00000679875.1:n.1856C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS779497"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1883,
          "referenceAllele": "C",
          "start": 1882
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017210",
      "geneNCBI_id": 57647,
      "geneSymbol": "DHX37",
      "hgvs": [
        "ENST00000308736.6:c.1784C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000311135.2:p.Ser595Phe",
        "hgvsWellDefined": "ENSP00000311135.2:p.Ser595Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256099"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1884,
          "referenceAllele": "C",
          "start": 1883
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017210",
      "geneNCBI_id": 57647,
      "geneSymbol": "DHX37",
      "hgvs": [
        "ENST00000539298.1:n.1884C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS361789"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 407,
          "referenceAllele": "C",
          "start": 406
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017210",
      "geneNCBI_id": 57647,
      "geneSymbol": "DHX37",
      "hgvs": [
        "ENST00000543962.1:c.139C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000443661.1:p.Leu47Phe",
        "hgvsWellDefined": "ENSP00000443661.1:p.Leu47Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS364313"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1255,
          "referenceAllele": "C",
          "start": 1254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017210",
      "geneNCBI_id": 57647,
      "geneSymbol": "DHX37",
      "hgvs": [
        "ENST00000544745.1:c.1145C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000439009.1:p.Ser382Phe",
        "hgvsWellDefined": "ENSP00000439009.1:p.Ser382Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS364727"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139751875",
      "coordinates": [
        {
          "allele": "T",
          "end": 1883,
          "referenceAllele": "C",
          "start": 1882
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017210",
      "geneNCBI_id": 57647,
      "geneSymbol": "DHX37",
      "hgvs": [
        "NM_032656.3:c.1784C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_116045.2:p.Ser595Phe",
        "hgvsWellDefined": "NP_116045.2:p.Ser595Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039245"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1893,
          "referenceAllele": "C",
          "start": 1892
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017210",
      "geneNCBI_id": 57647,
      "geneSymbol": "DHX37",
      "hgvs": [
        "XM_005253590.2:c.1784C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005253647.1:p.Ser595Phe",
        "hgvsWellDefined": "XP_005253647.1:p.Ser595Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060342"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1893,
          "referenceAllele": "C",
          "start": 1892
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017210",
      "geneNCBI_id": 57647,
      "geneSymbol": "DHX37",
      "hgvs": [
        "XM_011538597.1:c.1784C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536899.1:p.Ser595Phe",
        "hgvsWellDefined": "XP_011536899.1:p.Ser595Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105552"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1893,
          "referenceAllele": "C",
          "start": 1892
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017210",
      "geneNCBI_id": 57647,
      "geneSymbol": "DHX37",
      "hgvs": [
        "XM_011538598.1:c.1784C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536900.1:p.Ser595Phe",
        "hgvsWellDefined": "XP_011536900.1:p.Ser595Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105553"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1893,
          "referenceAllele": "C",
          "start": 1892
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017210",
      "geneNCBI_id": 57647,
      "geneSymbol": "DHX37",
      "hgvs": [
        "XM_011538599.1:c.1784C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536901.1:p.Ser595Phe",
        "hgvsWellDefined": "XP_011536901.1:p.Ser595Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105554"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1893,
          "referenceAllele": "C",
          "start": 1892
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017210",
      "geneNCBI_id": 57647,
      "geneSymbol": "DHX37",
      "hgvs": [
        "XM_011538600.1:c.1784C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536902.1:p.Ser595Phe",
        "hgvsWellDefined": "XP_011536902.1:p.Ser595Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105555"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1887,
          "referenceAllele": "C",
          "start": 1886
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017210",
      "geneNCBI_id": 57647,
      "geneSymbol": "DHX37",
      "hgvs": [
        "XM_005253590.3:c.1784C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005253647.1:p.Ser595Phe",
        "hgvsWellDefined": "XP_005253647.1:p.Ser595Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533980"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1887,
          "referenceAllele": "C",
          "start": 1886
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017210",
      "geneNCBI_id": 57647,
      "geneSymbol": "DHX37",
      "hgvs": [
        "XM_011538598.2:c.1784C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536900.1:p.Ser595Phe",
        "hgvsWellDefined": "XP_011536900.1:p.Ser595Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553325"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1887,
          "referenceAllele": "C",
          "start": 1886
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017210",
      "geneNCBI_id": 57647,
      "geneSymbol": "DHX37",
      "hgvs": [
        "XM_011538600.2:c.1784C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536902.1:p.Ser595Phe",
        "hgvsWellDefined": "XP_011536902.1:p.Ser595Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553326"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1887,
          "referenceAllele": "C",
          "start": 1886
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017210",
      "geneNCBI_id": 57647,
      "geneSymbol": "DHX37",
      "hgvs": [
        "XR_001748819.1:n.1887C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS596762"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1887,
          "referenceAllele": "C",
          "start": 1886
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017210",
      "geneNCBI_id": 57647,
      "geneSymbol": "DHX37",
      "hgvs": [
        "XR_001748820.1:n.1887C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS596763"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139751875",
      "coordinates": [
        {
          "allele": "T",
          "end": 1893,
          "referenceAllele": "C",
          "start": 1892
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017210",
      "geneNCBI_id": 57647,
      "geneSymbol": "DHX37",
      "hgvs": [
        "NM_032656.4:c.1784C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_116045.2:p.Ser595Phe",
        "hgvsWellDefined": "NP_116045.2:p.Ser595Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS671381",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000308736.7:c.1784C>T"
          },
          "RefSeq": {
            "hgvs": "NM_032656.4:c.1784C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000311135.2:p.Ser595Phe"
          },
          "RefSeq": {
            "hgvs": "NP_116045.2:p.Ser595Phe"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}