{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA415140839",
  "communityStandardTitle": [
    "NM_001569.4(IRAK1):c.1595C>G (p.Ser532Trp)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.153278829G>C?assembly=hg19",
        "id": "chrX:g.153278829G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.154013378G>C?assembly=hg38",
        "id": "chrX:g.154013378G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1059703",
        "rs": 1059703
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 154013378,
          "referenceAllele": "G",
          "start": 154013377
        }
      ],
      "hgvs": [
        "NC_000023.11:g.154013378G>C",
        "CM000685.2:g.154013378G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 153278829,
          "referenceAllele": "G",
          "start": 153278828
        }
      ],
      "hgvs": [
        "NC_000023.10:g.153278829G>C",
        "CM000685.1:g.153278829G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 152932023,
          "referenceAllele": "G",
          "start": 152932022
        }
      ],
      "hgvs": [
        "NC_000023.9:g.152932023G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 11514,
          "referenceAllele": "C",
          "start": 11513
        }
      ],
      "hgvs": [
        "NG_008387.1:g.11514C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001071"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 375,
          "referenceAllele": "C",
          "start": 374
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006112",
      "geneNCBI_id": 3654,
      "geneSymbol": "IRAK1",
      "hgvs": [
        "ENST00000467236.2:n.375C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS905143"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1139,
          "referenceAllele": "C",
          "start": 1138
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006112",
      "geneNCBI_id": 3654,
      "geneSymbol": "IRAK1",
      "hgvs": [
        "ENST00000699980.1:n.1139C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910851"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1685,
          "referenceAllele": "C",
          "start": 1684
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006112",
      "geneNCBI_id": 3654,
      "geneSymbol": "IRAK1",
      "hgvs": [
        "ENST00000369980.8:c.1595C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000358997.3:p.Ser532Trp",
        "hgvsWellDefined": "ENSP00000358997.3:p.Ser532Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750520",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000369980.8:c.1595C>G"
          },
          "RefSeq": {
            "hgvs": "NM_001569.4:c.1595C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000358997.3:p.Ser532Trp"
          },
          "RefSeq": {
            "hgvs": "NP_001560.2:p.Ser532Trp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1643,
          "referenceAllele": "C",
          "start": 1642
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006112",
      "geneNCBI_id": 3654,
      "geneSymbol": "IRAK1",
      "hgvs": [
        "ENST00000369973.7:c.*538C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000358990.3:n.*538C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267800"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1422,
          "referenceAllele": "C",
          "start": 1421
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006112",
      "geneNCBI_id": 3654,
      "geneSymbol": "IRAK1",
      "hgvs": [
        "ENST00000369974.6:c.1358C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000358991.2:p.Ser453Trp",
        "hgvsWellDefined": "ENSP00000358991.2:p.Ser453Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267801"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1763,
          "referenceAllele": "C",
          "start": 1762
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006112",
      "geneNCBI_id": 3654,
      "geneSymbol": "IRAK1",
      "hgvs": [
        "ENST00000369980.7:c.1595C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000358997.3:p.Ser532Trp",
        "hgvsWellDefined": "ENSP00000358997.3:p.Ser532Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267805"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1539,
          "endIntronDirection": "-",
          "endIntronOffset": 34,
          "referenceAllele": "C",
          "start": 1539,
          "startIntronDirection": "-",
          "startIntronOffset": 35
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006112",
      "geneNCBI_id": 3654,
      "geneSymbol": "IRAK1",
      "hgvs": [
        "ENST00000393687.6:c.1540-35C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377291.2:n.1540-35C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275757"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1617,
          "endIntronDirection": "-",
          "endIntronOffset": 34,
          "referenceAllele": "C",
          "start": 1617,
          "startIntronDirection": "-",
          "startIntronOffset": 35
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006112",
      "geneNCBI_id": 3654,
      "geneSymbol": "IRAK1",
      "hgvs": [
        "ENST00000429936.6:c.1618-35C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000392662.2:n.1618-35C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS290900"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 320,
          "endIntronDirection": "-",
          "endIntronOffset": 34,
          "referenceAllele": "C",
          "start": 320,
          "startIntronDirection": "-",
          "startIntronOffset": 35
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006112",
      "geneNCBI_id": 3654,
      "geneSymbol": "IRAK1",
      "hgvs": [
        "ENST00000437278.5:c.321-35C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS294387"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 840,
          "referenceAllele": "C",
          "start": 839
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006112",
      "geneNCBI_id": 3654,
      "geneSymbol": "IRAK1",
      "hgvs": [
        "ENST00000443220.1:c.840C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS297243"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 528,
          "endIntronDirection": "-",
          "endIntronOffset": 2261,
          "referenceAllele": "C",
          "start": 528,
          "startIntronDirection": "-",
          "startIntronOffset": 2262
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006112",
      "geneNCBI_id": 3654,
      "geneSymbol": "IRAK1",
      "hgvs": [
        "ENST00000444230.5:c.529-2262C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000399974.1:n.529-2262C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS297708"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 261,
          "referenceAllele": "C",
          "start": 260
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006112",
      "geneNCBI_id": 3654,
      "geneSymbol": "IRAK1",
      "hgvs": [
        "ENST00000444254.1:c.261C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS297719"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 279,
          "endIntronDirection": "+",
          "endIntronOffset": 664,
          "referenceAllele": "C",
          "start": 279,
          "startIntronDirection": "+",
          "startIntronOffset": 663
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006112",
      "geneNCBI_id": 3654,
      "geneSymbol": "IRAK1",
      "hgvs": [
        "ENST00000455690.5:c.279+664C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000411809.1:n.279+664C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS303166"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 392,
          "referenceAllele": "C",
          "start": 391
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006112",
      "geneNCBI_id": 3654,
      "geneSymbol": "IRAK1",
      "hgvs": [
        "ENST00000467236.1:n.392C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS310406"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 615,
          "endIntronDirection": "-",
          "endIntronOffset": 2566,
          "referenceAllele": "C",
          "start": 615,
          "startIntronDirection": "-",
          "startIntronOffset": 2567
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006112",
      "geneNCBI_id": 3654,
      "geneSymbol": "IRAK1",
      "hgvs": [
        "ENST00000477274.1:n.616-2567C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS318125"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1618,
          "endIntronDirection": "-",
          "endIntronOffset": 34,
          "referenceAllele": "C",
          "start": 1618,
          "startIntronDirection": "-",
          "startIntronOffset": 35
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006112",
      "geneNCBI_id": 3654,
      "geneSymbol": "IRAK1",
      "hgvs": [
        "NM_001025242.1:c.1540-35C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001020413.1:n.1540-35C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008867"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1437,
          "referenceAllele": "C",
          "start": 1436
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006112",
      "geneNCBI_id": 3654,
      "geneSymbol": "IRAK1",
      "hgvs": [
        "NM_001025243.1:c.1358C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001020414.1:p.Ser453Trp",
        "hgvsWellDefined": "NP_001020414.1:p.Ser453Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008868"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063187350",
      "coordinates": [
        {
          "allele": "G",
          "end": 1674,
          "referenceAllele": "C",
          "start": 1673
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006112",
      "geneNCBI_id": 3654,
      "geneSymbol": "IRAK1",
      "hgvs": [
        "NM_001569.3:c.1595C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001560.2:p.Ser532Trp",
        "hgvsWellDefined": "NP_001560.2:p.Ser532Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026938"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6389,
          "endIntronDirection": "-",
          "endIntronOffset": 34,
          "referenceAllele": "C",
          "start": 6389,
          "startIntronDirection": "-",
          "startIntronOffset": 35
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006112",
      "geneNCBI_id": 3654,
      "geneSymbol": "IRAK1",
      "hgvs": [
        "XM_005274668.2:c.1618-35C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274725.1:n.1618-35C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068032"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1396,
          "endIntronDirection": "-",
          "endIntronOffset": 34,
          "referenceAllele": "C",
          "start": 1396,
          "startIntronDirection": "-",
          "startIntronOffset": 35
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006112",
      "geneNCBI_id": 3654,
      "geneSymbol": "IRAK1",
      "hgvs": [
        "XM_011531158.1:c.1303-35C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529460.1:n.1303-35C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098199"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1789,
          "endIntronDirection": "-",
          "endIntronOffset": 34,
          "referenceAllele": "C",
          "start": 1789,
          "startIntronDirection": "-",
          "startIntronOffset": 35
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006112",
      "geneNCBI_id": 3654,
      "geneSymbol": "IRAK1",
      "hgvs": [
        "XM_005274668.4:c.1618-35C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274725.1:n.1618-35C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537652"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063187350",
      "coordinates": [
        {
          "allele": "G",
          "end": 1685,
          "referenceAllele": "C",
          "start": 1684
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006112",
      "geneNCBI_id": 3654,
      "geneSymbol": "IRAK1",
      "hgvs": [
        "NM_001569.4:c.1595C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001560.2:p.Ser532Trp",
        "hgvsWellDefined": "NP_001560.2:p.Ser532Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665053",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000369980.8:c.1595C>G"
          },
          "RefSeq": {
            "hgvs": "NM_001569.4:c.1595C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000358997.3:p.Ser532Trp"
          },
          "RefSeq": {
            "hgvs": "NP_001560.2:p.Ser532Trp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1629,
          "endIntronDirection": "-",
          "endIntronOffset": 34,
          "referenceAllele": "C",
          "start": 1629,
          "startIntronDirection": "-",
          "startIntronOffset": 35
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006112",
      "geneNCBI_id": 3654,
      "geneSymbol": "IRAK1",
      "hgvs": [
        "NM_001025242.2:c.1540-35C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001020413.1:n.1540-35C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675675"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1448,
          "referenceAllele": "C",
          "start": 1447
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006112",
      "geneNCBI_id": 3654,
      "geneSymbol": "IRAK1",
      "hgvs": [
        "NM_001025243.2:c.1358C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001020414.1:p.Ser453Trp",
        "hgvsWellDefined": "NP_001020414.1:p.Ser453Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675676"
    }
  ],
  "type": "nucleotide"
}