{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA358665",
  "communityStandardTitle": [
    "NM_016222.4(DDX41):c.490C>T (p.Arg164Trp)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=226419[alleleid]",
        "alleleId": 226419,
        "preferredName": "NM_016222.4(DDX41):c.490C>T (p.Arg164Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/224638",
        "RCV": [
          "RCV000210264",
          "RCV001818508"
        ],
        "variationId": 224638
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/5-176942767-G-A",
        "id": "5-176942767-G-A",
        "variant": "5:176942767 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.176942767G>A?assembly=hg19",
        "id": "chr5:g.176942767G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.177515766G>A?assembly=hg38",
        "id": "chr5:g.177515766G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/142143752",
        "rs": 142143752
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-176942767-G-A?dataset=gnomad_r2_1",
        "id": "5-176942767-G-A",
        "variant": "5:176942767 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-177515766-G-A?dataset=gnomad_r3",
        "id": "5-177515766-G-A",
        "variant": "5:177515766 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-177515766-G-A?dataset=gnomad_r4",
        "id": "5-177515766-G-A",
        "variant": "5:177515766 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 177515766,
          "referenceAllele": "G",
          "start": 177515765
        }
      ],
      "hgvs": [
        "NC_000005.10:g.177515766G>A",
        "CM000667.2:g.177515766G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 176942767,
          "referenceAllele": "G",
          "start": 176942766
        }
      ],
      "hgvs": [
        "NC_000005.9:g.176942767G>A",
        "CM000667.1:g.176942767G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 176875373,
          "referenceAllele": "G",
          "start": 176875372
        }
      ],
      "hgvs": [
        "NC_000005.8:g.176875373G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6561,
          "referenceAllele": "C",
          "start": 6560
        }
      ],
      "hgvs": [
        "NG_046846.1:g.6561C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616417"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6196,
          "referenceAllele": "C",
          "start": 6195
        }
      ],
      "hgvs": [
        "NG_046846.2:g.6196C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706171"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 506,
          "referenceAllele": "C",
          "start": 505
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018674",
      "geneNCBI_id": 51428,
      "geneSymbol": "DDX41",
      "hgvs": [
        "ENST00000330503.12:c.490C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000330349.8:p.Arg164Trp",
        "hgvsWellDefined": "ENSP00000330349.8:p.Arg164Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747074",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000330503.12:c.490C>T"
          },
          "RefSeq": {
            "hgvs": "NM_016222.4:c.490C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000330349.8:p.Arg164Trp"
          },
          "RefSeq": {
            "hgvs": "NP_057306.2:p.Arg164Trp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 490,
          "referenceAllele": "C",
          "start": 489
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018674",
      "geneNCBI_id": 51428,
      "geneSymbol": "DDX41",
      "hgvs": [
        "ENST00000507955.6:c.490C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000422753.2:p.Arg164Trp",
        "hgvsWellDefined": "ENSP00000422753.2:p.Arg164Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758129"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 451,
          "endIntronDirection": "+",
          "endIntronOffset": 163,
          "referenceAllele": "C",
          "start": 451,
          "startIntronDirection": "+",
          "startIntronOffset": 162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018674",
      "geneNCBI_id": 51428,
      "geneSymbol": "DDX41",
      "hgvs": [
        "ENST00000650742.1:n.451+163C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS771287"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 487,
          "endIntronDirection": "+",
          "endIntronOffset": 163,
          "referenceAllele": "C",
          "start": 487,
          "startIntronDirection": "+",
          "startIntronOffset": 162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018674",
      "geneNCBI_id": 51428,
      "geneSymbol": "DDX41",
      "hgvs": [
        "ENST00000652618.1:n.487+163C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS772315"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 562,
          "referenceAllele": "C",
          "start": 561
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018674",
      "geneNCBI_id": 51428,
      "geneSymbol": "DDX41",
      "hgvs": [
        "ENST00000652623.1:n.562C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS772319"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 544,
          "referenceAllele": "C",
          "start": 543
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018674",
      "geneNCBI_id": 51428,
      "geneSymbol": "DDX41",
      "hgvs": [
        "ENST00000330503.11:c.544C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000330349.7:p.Arg182Trp",
        "hgvsWellDefined": "ENSP00000330349.7:p.Arg182Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259250"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 783,
          "referenceAllele": "C",
          "start": 782
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018674",
      "geneNCBI_id": 51428,
      "geneSymbol": "DDX41",
      "hgvs": [
        "ENST00000503078.5:n.783C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS335484"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 229,
          "referenceAllele": "C",
          "start": 228
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018674",
      "geneNCBI_id": 51428,
      "geneSymbol": "DDX41",
      "hgvs": [
        "ENST00000504781.5:c.229C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000425739.1:p.Arg77Trp",
        "hgvsWellDefined": "ENSP00000425739.1:p.Arg77Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS336744"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 731,
          "referenceAllele": "C",
          "start": 730
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018674",
      "geneNCBI_id": 51428,
      "geneSymbol": "DDX41",
      "hgvs": [
        "ENST00000505081.5:n.731C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS336963"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 439,
          "endIntronDirection": "+",
          "endIntronOffset": 163,
          "referenceAllele": "C",
          "start": 439,
          "startIntronDirection": "+",
          "startIntronOffset": 162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018674",
      "geneNCBI_id": 51428,
      "geneSymbol": "DDX41",
      "hgvs": [
        "ENST00000506965.5:n.439+163C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS338384"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1014,
          "referenceAllele": "C",
          "start": 1013
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018674",
      "geneNCBI_id": 51428,
      "geneSymbol": "DDX41",
      "hgvs": [
        "ENST00000507955.5:c.490C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000422753.1:p.Arg164Trp",
        "hgvsWellDefined": "ENSP00000422753.1:p.Arg164Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS339101"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 495,
          "referenceAllele": "C",
          "start": 494
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018674",
      "geneNCBI_id": 51428,
      "geneSymbol": "DDX41",
      "hgvs": [
        "ENST00000509576.5:c.490C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426330.1:p.Arg164Trp",
        "hgvsWellDefined": "ENSP00000426330.1:p.Arg164Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS340306"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 609,
          "referenceAllele": "C",
          "start": 608
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018674",
      "geneNCBI_id": 51428,
      "geneSymbol": "DDX41",
      "hgvs": [
        "ENST00000512431.5:n.609C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS342450"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 759,
          "referenceAllele": "C",
          "start": 758
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018674",
      "geneNCBI_id": 51428,
      "geneSymbol": "DDX41",
      "hgvs": [
        "ENST00000515562.1:n.759C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS344758"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 490,
          "referenceAllele": "C",
          "start": 489
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018674",
      "geneNCBI_id": 51428,
      "geneSymbol": "DDX41",
      "hgvs": [
        "ENST00000629036.2:c.490C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486367.1:p.Arg164Trp",
        "hgvsWellDefined": "ENSP00000486367.1:p.Arg164Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407156"
    },
    {
      "@id": "http://reg.genome.network/allele/PA358666",
      "coordinates": [
        {
          "allele": "T",
          "end": 511,
          "referenceAllele": "C",
          "start": 510
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018674",
      "geneNCBI_id": 51428,
      "geneSymbol": "DDX41",
      "hgvs": [
        "NM_016222.2:c.490C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_057306.2:p.Arg164Trp",
        "hgvsWellDefined": "NP_057306.2:p.Arg164Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS034535"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 567,
          "referenceAllele": "C",
          "start": 566
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018674",
      "geneNCBI_id": 51428,
      "geneSymbol": "DDX41",
      "hgvs": [
        "XM_006714870.1:c.112C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006714933.1:p.Arg38Trp",
        "hgvsWellDefined": "XP_006714933.1:p.Arg38Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070891"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827074367",
      "coordinates": [
        {
          "allele": "T",
          "end": 1148,
          "referenceAllele": "C",
          "start": 1147
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018674",
      "geneNCBI_id": 51428,
      "geneSymbol": "DDX41",
      "hgvs": [
        "NM_001321732.1:c.112C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308661.1:p.Arg38Trp",
        "hgvsWellDefined": "NP_001308661.1:p.Arg38Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514448"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916025138",
      "coordinates": [
        {
          "allele": "T",
          "end": 940,
          "referenceAllele": "C",
          "start": 939
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018674",
      "geneNCBI_id": 51428,
      "geneSymbol": "DDX41",
      "hgvs": [
        "NM_001321830.1:c.112C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308759.1:p.Arg38Trp",
        "hgvsWellDefined": "NP_001308759.1:p.Arg38Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514523"
    },
    {
      "@id": "http://reg.genome.network/allele/PA358666",
      "coordinates": [
        {
          "allele": "T",
          "end": 871,
          "referenceAllele": "C",
          "start": 870
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018674",
      "geneNCBI_id": 51428,
      "geneSymbol": "DDX41",
      "hgvs": [
        "NM_016222.3:c.490C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_057306.2:p.Arg164Trp",
        "hgvsWellDefined": "NP_057306.2:p.Arg164Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525755"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 693,
          "referenceAllele": "C",
          "start": 692
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018674",
      "geneNCBI_id": 51428,
      "geneSymbol": "DDX41",
      "hgvs": [
        "XM_024446109.1:c.133C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301877.1:p.Arg45Trp",
        "hgvsWellDefined": "XP_024301877.1:p.Arg45Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579786"
    },
    {
      "@id": "http://reg.genome.network/allele/PA358666",
      "coordinates": [
        {
          "allele": "T",
          "end": 506,
          "referenceAllele": "C",
          "start": 505
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018674",
      "geneNCBI_id": 51428,
      "geneSymbol": "DDX41",
      "hgvs": [
        "NM_016222.4:c.490C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_057306.2:p.Arg164Trp",
        "hgvsWellDefined": "NP_057306.2:p.Arg164Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS669038",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000330503.12:c.490C>T"
          },
          "RefSeq": {
            "hgvs": "NM_016222.4:c.490C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000330349.8:p.Arg164Trp"
          },
          "RefSeq": {
            "hgvs": "NP_057306.2:p.Arg164Trp"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827074367",
      "coordinates": [
        {
          "allele": "T",
          "end": 783,
          "referenceAllele": "C",
          "start": 782
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018674",
      "geneNCBI_id": 51428,
      "geneSymbol": "DDX41",
      "hgvs": [
        "NM_001321732.2:c.112C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308661.1:p.Arg38Trp",
        "hgvsWellDefined": "NP_001308661.1:p.Arg38Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685456"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916025138",
      "coordinates": [
        {
          "allele": "T",
          "end": 575,
          "referenceAllele": "C",
          "start": 574
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018674",
      "geneNCBI_id": 51428,
      "geneSymbol": "DDX41",
      "hgvs": [
        "NM_001321830.2:c.112C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308759.1:p.Arg38Trp",
        "hgvsWellDefined": "NP_001308759.1:p.Arg38Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685506"
    }
  ],
  "type": "nucleotide"
}