{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2456071",
  "communityStandardTitle": [
    "NM_018725.4(IL17RB):c.126C>T (p.Pro42=)"
  ],
  "externalRecords": {
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/3-53883722-C-T",
        "id": "3-53883722-C-T",
        "variant": "3:53883722 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.53883722C>T?assembly=hg19",
        "id": "chr3:g.53883722C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.53849695C>T?assembly=hg38",
        "id": "chr3:g.53849695C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1025689",
        "rs": 1025689
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-53883722-C-T?dataset=gnomad_r2_1",
        "id": "3-53883722-C-T",
        "variant": "3:53883722 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-53849695-C-T?dataset=gnomad_r3",
        "id": "3-53849695-C-T",
        "variant": "3:53849695 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-53849695-C-T?dataset=gnomad_r4",
        "id": "3-53849695-C-T",
        "variant": "3:53849695 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "T",
          "end": 53849695,
          "referenceAllele": "C",
          "start": 53849694
        }
      ],
      "hgvs": [
        "NC_000003.12:g.53849695C>T",
        "CM000665.2:g.53849695C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "T",
          "end": 53883722,
          "referenceAllele": "C",
          "start": 53883721
        }
      ],
      "hgvs": [
        "NC_000003.11:g.53883722C>T",
        "CM000665.1:g.53883722C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "T",
          "end": 53858762,
          "referenceAllele": "C",
          "start": 53858761
        }
      ],
      "hgvs": [
        "NC_000003.10:g.53858762C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1699,
          "referenceAllele": "G",
          "start": 1698
        }
      ],
      "hgvs": [
        "NG_028042.1:g.1699G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004054"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 147,
          "referenceAllele": "C",
          "start": 146
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018015",
      "geneNCBI_id": 55540,
      "geneSymbol": "IL17RB",
      "hgvs": [
        "ENST00000288167.8:c.126C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000288167.3:p.Pro42="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743938",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000288167.8:c.126C>T"
          },
          "RefSeq": {
            "hgvs": "NM_018725.4:c.126C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000288167.3:p.Pro42="
          },
          "RefSeq": {
            "hgvs": "NP_061195.2:p.Pro42="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 135,
          "referenceAllele": "C",
          "start": 134
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018015",
      "geneNCBI_id": 55540,
      "geneSymbol": "IL17RB",
      "hgvs": [
        "ENST00000288167.7:c.126C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000288167.3:p.Pro42="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253498"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 131,
          "referenceAllele": "C",
          "start": 130
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018015",
      "geneNCBI_id": 55540,
      "geneSymbol": "IL17RB",
      "hgvs": [
        "ENST00000475124.1:n.131C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS316474"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 130,
          "referenceAllele": "C",
          "start": 129
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018015",
      "geneNCBI_id": 55540,
      "geneSymbol": "IL17RB",
      "hgvs": [
        "ENST00000494338.1:c.126C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418638.1:p.Pro42="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS331293"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3068367614",
      "coordinates": [
        {
          "allele": "T",
          "end": 165,
          "referenceAllele": "C",
          "start": 164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018015",
      "geneNCBI_id": 55540,
      "geneSymbol": "IL17RB",
      "hgvs": [
        "NM_018725.3:c.126C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_061195.2:p.Pro42="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS035885"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 165,
          "referenceAllele": "C",
          "start": 164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018015",
      "geneNCBI_id": 55540,
      "geneSymbol": "IL17RB",
      "hgvs": [
        "XM_005265310.3:c.126C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005265367.1:p.Pro42="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064571"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 165,
          "referenceAllele": "C",
          "start": 164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018015",
      "geneNCBI_id": 55540,
      "geneSymbol": "IL17RB",
      "hgvs": [
        "XM_005265311.3:c.126C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005265368.1:p.Pro42="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064572"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 165,
          "referenceAllele": "C",
          "start": 164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018015",
      "geneNCBI_id": 55540,
      "geneSymbol": "IL17RB",
      "hgvs": [
        "XM_005265312.3:c.126C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005265369.1:p.Pro42="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064573"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 165,
          "referenceAllele": "C",
          "start": 164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018015",
      "geneNCBI_id": 55540,
      "geneSymbol": "IL17RB",
      "hgvs": [
        "XM_011533941.1:c.126C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532243.1:p.Pro42="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100959"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 165,
          "referenceAllele": "C",
          "start": 164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018015",
      "geneNCBI_id": 55540,
      "geneSymbol": "IL17RB",
      "hgvs": [
        "XR_245147.3:n.165C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS116914"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 165,
          "referenceAllele": "C",
          "start": 164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018015",
      "geneNCBI_id": 55540,
      "geneSymbol": "IL17RB",
      "hgvs": [
        "XR_940467.1:n.165C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS135163"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 165,
          "referenceAllele": "C",
          "start": 164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018015",
      "geneNCBI_id": 55540,
      "geneSymbol": "IL17RB",
      "hgvs": [
        "XR_940468.1:n.165C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS135164"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 165,
          "referenceAllele": "C",
          "start": 164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018015",
      "geneNCBI_id": 55540,
      "geneSymbol": "IL17RB",
      "hgvs": [
        "XM_005265310.5:c.126C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005265367.1:p.Pro42="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536027"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 165,
          "referenceAllele": "C",
          "start": 164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018015",
      "geneNCBI_id": 55540,
      "geneSymbol": "IL17RB",
      "hgvs": [
        "XM_005265311.5:c.126C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005265368.1:p.Pro42="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536028"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 165,
          "referenceAllele": "C",
          "start": 164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018015",
      "geneNCBI_id": 55540,
      "geneSymbol": "IL17RB",
      "hgvs": [
        "XM_005265312.5:c.126C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005265369.1:p.Pro42="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536029"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 165,
          "referenceAllele": "C",
          "start": 164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018015",
      "geneNCBI_id": 55540,
      "geneSymbol": "IL17RB",
      "hgvs": [
        "XM_011533941.3:c.126C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532243.1:p.Pro42="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551433"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 162,
          "referenceAllele": "C",
          "start": 161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018015",
      "geneNCBI_id": 55540,
      "geneSymbol": "IL17RB",
      "hgvs": [
        "XM_017006804.2:c.-98C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016862293.1:n.-98C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS561736"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 162,
          "referenceAllele": "C",
          "start": 161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018015",
      "geneNCBI_id": 55540,
      "geneSymbol": "IL17RB",
      "hgvs": [
        "XM_017006805.2:c.-98C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016862294.1:n.-98C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS561737"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 162,
          "referenceAllele": "C",
          "start": 161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018015",
      "geneNCBI_id": 55540,
      "geneSymbol": "IL17RB",
      "hgvs": [
        "XM_017006806.2:c.-98C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016862295.1:n.-98C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS561738"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 165,
          "referenceAllele": "C",
          "start": 164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018015",
      "geneNCBI_id": 55540,
      "geneSymbol": "IL17RB",
      "hgvs": [
        "XM_017006807.2:c.126C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016862296.1:p.Pro42="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS561739"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 165,
          "referenceAllele": "C",
          "start": 164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018015",
      "geneNCBI_id": 55540,
      "geneSymbol": "IL17RB",
      "hgvs": [
        "XM_024453634.1:c.126C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024309402.1:p.Pro42="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587010"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 165,
          "referenceAllele": "C",
          "start": 164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018015",
      "geneNCBI_id": 55540,
      "geneSymbol": "IL17RB",
      "hgvs": [
        "XM_024453635.1:c.126C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024309403.1:p.Pro42="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587011"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 165,
          "referenceAllele": "C",
          "start": 164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018015",
      "geneNCBI_id": 55540,
      "geneSymbol": "IL17RB",
      "hgvs": [
        "XM_024453636.1:c.126C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024309404.1:p.Pro42="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587012"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3068367614",
      "coordinates": [
        {
          "allele": "T",
          "end": 147,
          "referenceAllele": "C",
          "start": 146
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018015",
      "geneNCBI_id": 55540,
      "geneSymbol": "IL17RB",
      "hgvs": [
        "NM_018725.4:c.126C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_061195.2:p.Pro42="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS669740",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000288167.8:c.126C>T"
          },
          "RefSeq": {
            "hgvs": "NM_018725.4:c.126C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000288167.3:p.Pro42="
          },
          "RefSeq": {
            "hgvs": "NP_061195.2:p.Pro42="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}