{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA124197",
  "communityStandardTitle": [
    "NM_002188.3(IL13):c.431A>G (p.Gln144Arg)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=29712[alleleid]",
        "alleleId": 29712,
        "preferredName": "NM_002188.3(IL13):c.431A>G (p.Gln144Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/14673",
        "RCV": [
          "RCV000015785",
          "RCV002509161",
          "RCV003974831"
        ],
        "variationId": 14673
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/5-131995964-A-G",
        "id": "5-131995964-A-G",
        "variant": "5:131995964 A / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.131995964A>G?assembly=hg19",
        "id": "chr5:g.131995964A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.132660272A>G?assembly=hg38",
        "id": "chr5:g.132660272A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/20541",
        "rs": 20541
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-131995964-A-G?dataset=gnomad_r2_1",
        "id": "5-131995964-A-G",
        "variant": "5:131995964 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-132660272-A-G?dataset=gnomad_r3",
        "id": "5-132660272-A-G",
        "variant": "5:132660272 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-132660272-A-G?dataset=gnomad_r4",
        "id": "5-132660272-A-G",
        "variant": "5:132660272 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "G",
          "end": 132660272,
          "referenceAllele": "A",
          "start": 132660271
        }
      ],
      "hgvs": [
        "NC_000005.10:g.132660272A>G",
        "CM000667.2:g.132660272A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "G",
          "end": 131995964,
          "referenceAllele": "A",
          "start": 131995963
        }
      ],
      "hgvs": [
        "NC_000005.9:g.131995964A>G",
        "CM000667.1:g.131995964A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "G",
          "end": 132023863,
          "referenceAllele": "A",
          "start": 132023862
        }
      ],
      "hgvs": [
        "NC_000005.8:g.132023863A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7100,
          "referenceAllele": "A",
          "start": 7099
        }
      ],
      "hgvs": [
        "NG_012090.1:g.7100A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002174"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 445,
          "referenceAllele": "A",
          "start": 444
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005973",
      "geneNCBI_id": 3596,
      "geneSymbol": "IL13",
      "hgvs": [
        "ENST00000304506.7:c.431A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000304915.3:p.Gln144Arg",
        "hgvsWellDefined": "ENSP00000304915.3:p.Gln144Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255461",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000304506.7:c.431A>G"
          },
          "RefSeq": {
            "hgvs": "NM_002188.3:c.431A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000304915.3:p.Gln144Arg"
          },
          "RefSeq": {
            "hgvs": "NP_002179.2:p.Gln144Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 435,
          "referenceAllele": "A",
          "start": 434
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005973",
      "geneNCBI_id": 3596,
      "geneSymbol": "IL13",
      "hgvs": [
        "ENST00000459878.5:n.435A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS304747"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1502,
          "referenceAllele": "A",
          "start": 1501
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005973",
      "geneNCBI_id": 3596,
      "geneSymbol": "IL13",
      "hgvs": [
        "ENST00000462480.1:n.1502A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS306727"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 804,
          "referenceAllele": "A",
          "start": 803
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005973",
      "geneNCBI_id": 3596,
      "geneSymbol": "IL13",
      "hgvs": [
        "ENST00000468334.5:n.804A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS311270"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 602,
          "referenceAllele": "A",
          "start": 601
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005973",
      "geneNCBI_id": 3596,
      "geneSymbol": "IL13",
      "hgvs": [
        "ENST00000487267.5:n.602A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS325876"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 445,
          "referenceAllele": "A",
          "start": 444
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005973",
      "geneNCBI_id": 3596,
      "geneSymbol": "IL13",
      "hgvs": [
        "ENST00000617259.2:c.389A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479835.1:p.Gln130Arg",
        "hgvsWellDefined": "ENSP00000479835.1:p.Gln130Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403406"
    },
    {
      "@id": "http://reg.genome.network/allele/PA124198",
      "coordinates": [
        {
          "allele": "G",
          "end": 445,
          "referenceAllele": "A",
          "start": 444
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005973",
      "geneNCBI_id": 3596,
      "geneSymbol": "IL13",
      "hgvs": [
        "NM_002188.2:c.431A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_002179.2:p.Gln144Arg",
        "hgvsWellDefined": "NP_002179.2:p.Gln144Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027508"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828042199",
      "coordinates": [
        {
          "allele": "G",
          "end": 435,
          "referenceAllele": "A",
          "start": 434
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005973",
      "geneNCBI_id": 3596,
      "geneSymbol": "IL13",
      "hgvs": [
        "NM_001354991.1:c.236A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341920.1:p.Gln79Arg",
        "hgvsWellDefined": "NP_001341920.1:p.Gln79Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522795"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828042205",
      "coordinates": [
        {
          "allele": "G",
          "end": 614,
          "referenceAllele": "A",
          "start": 613
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005973",
      "geneNCBI_id": 3596,
      "geneSymbol": "IL13",
      "hgvs": [
        "NM_001354992.1:c.236A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341921.1:p.Gln79Arg",
        "hgvsWellDefined": "NP_001341921.1:p.Gln79Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522796"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916043021",
      "coordinates": [
        {
          "allele": "G",
          "end": 543,
          "referenceAllele": "A",
          "start": 542
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005973",
      "geneNCBI_id": 3596,
      "geneSymbol": "IL13",
      "hgvs": [
        "NM_001354993.1:c.236A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341922.1:p.Gln79Arg",
        "hgvsWellDefined": "NP_001341922.1:p.Gln79Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522797"
    },
    {
      "@id": "http://reg.genome.network/allele/PA124198",
      "coordinates": [
        {
          "allele": "G",
          "end": 445,
          "referenceAllele": "A",
          "start": 444
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005973",
      "geneNCBI_id": 3596,
      "geneSymbol": "IL13",
      "hgvs": [
        "NM_002188.3:c.431A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_002179.2:p.Gln144Arg",
        "hgvsWellDefined": "NP_002179.2:p.Gln144Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665394",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000304506.7:c.431A>G"
          },
          "RefSeq": {
            "hgvs": "NM_002188.3:c.431A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000304915.3:p.Gln144Arg"
          },
          "RefSeq": {
            "hgvs": "NP_002179.2:p.Gln144Arg"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828042199",
      "coordinates": [
        {
          "allele": "G",
          "end": 437,
          "referenceAllele": "A",
          "start": 436
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005973",
      "geneNCBI_id": 3596,
      "geneSymbol": "IL13",
      "hgvs": [
        "NM_001354991.2:c.236A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341920.1:p.Gln79Arg",
        "hgvsWellDefined": "NP_001341920.1:p.Gln79Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690390"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828042205",
      "coordinates": [
        {
          "allele": "G",
          "end": 616,
          "referenceAllele": "A",
          "start": 615
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005973",
      "geneNCBI_id": 3596,
      "geneSymbol": "IL13",
      "hgvs": [
        "NM_001354992.2:c.236A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341921.1:p.Gln79Arg",
        "hgvsWellDefined": "NP_001341921.1:p.Gln79Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690391"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916043021",
      "coordinates": [
        {
          "allele": "G",
          "end": 545,
          "referenceAllele": "A",
          "start": 544
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005973",
      "geneNCBI_id": 3596,
      "geneSymbol": "IL13",
      "hgvs": [
        "NM_001354993.2:c.236A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341922.1:p.Gln79Arg",
        "hgvsWellDefined": "NP_001341922.1:p.Gln79Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690392"
    }
  ],
  "type": "nucleotide"
}