{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA8228102",
  "communityStandardTitle": [
    "NM_013278.4(IL17C):c.494G>A (p.Arg165His)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2197099[alleleid]",
        "alleleId": 2197099,
        "preferredName": "NM_013278.4(IL17C):c.494G>A (p.Arg165His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2207164",
        "RCV": [
          "RCV004071532"
        ],
        "variationId": 2207164
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/16-88706380-G-A",
        "id": "16-88706380-G-A",
        "variant": "16:88706380 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.88706380G>A?assembly=hg19",
        "id": "chr16:g.88706380G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.88639972G>A?assembly=hg38",
        "id": "chr16:g.88639972G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/570996098",
        "rs": 570996098
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-88706380-G-A?dataset=gnomad_r2_1",
        "id": "16-88706380-G-A",
        "variant": "16:88706380 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-88639972-G-A?dataset=gnomad_r3",
        "id": "16-88639972-G-A",
        "variant": "16:88639972 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-88639972-G-A?dataset=gnomad_r4",
        "id": "16-88639972-G-A",
        "variant": "16:88639972 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 88639972,
          "referenceAllele": "G",
          "start": 88639971
        }
      ],
      "hgvs": [
        "NC_000016.10:g.88639972G>A",
        "CM000678.2:g.88639972G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 88706380,
          "referenceAllele": "G",
          "start": 88706379
        }
      ],
      "hgvs": [
        "NC_000016.9:g.88706380G>A",
        "CM000678.1:g.88706380G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 87233881,
          "referenceAllele": "G",
          "start": 87233880
        }
      ],
      "hgvs": [
        "NC_000016.8:g.87233881G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 564,
          "referenceAllele": "G",
          "start": 563
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005983",
      "geneNCBI_id": 27189,
      "geneSymbol": "IL17C",
      "hgvs": [
        "ENST00000244241.5:c.494G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000244241.4:p.Arg165His",
        "hgvsWellDefined": "ENSP00000244241.4:p.Arg165His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741207",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000244241.5:c.494G>A"
          },
          "RefSeq": {
            "hgvs": "NM_013278.4:c.494G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000244241.4:p.Arg165His"
          },
          "RefSeq": {
            "hgvs": "NP_037410.1:p.Arg165His"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 543,
          "referenceAllele": "G",
          "start": 542
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005983",
      "geneNCBI_id": 27189,
      "geneSymbol": "IL17C",
      "hgvs": [
        "ENST00000244241.4:c.494G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000244241.4:p.Arg165His",
        "hgvsWellDefined": "ENSP00000244241.4:p.Arg165His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249314"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 878,
          "referenceAllele": "G",
          "start": 877
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005983",
      "geneNCBI_id": 27189,
      "geneSymbol": "IL17C",
      "hgvs": [
        "ENST00000569133.1:n.878G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS381261"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580357953",
      "coordinates": [
        {
          "allele": "A",
          "end": 543,
          "referenceAllele": "G",
          "start": 542
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005983",
      "geneNCBI_id": 27189,
      "geneSymbol": "IL17C",
      "hgvs": [
        "NM_013278.3:c.494G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_037410.1:p.Arg165His",
        "hgvsWellDefined": "NP_037410.1:p.Arg165His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032682"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580357953",
      "coordinates": [
        {
          "allele": "A",
          "end": 564,
          "referenceAllele": "G",
          "start": 563
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005983",
      "geneNCBI_id": 27189,
      "geneSymbol": "IL17C",
      "hgvs": [
        "NM_013278.4:c.494G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_037410.1:p.Arg165His",
        "hgvsWellDefined": "NP_037410.1:p.Arg165His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697100",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000244241.5:c.494G>A"
          },
          "RefSeq": {
            "hgvs": "NM_013278.4:c.494G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000244241.4:p.Arg165His"
          },
          "RefSeq": {
            "hgvs": "NP_037410.1:p.Arg165His"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}