{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA11915148",
  "communityStandardTitle": [
    "NM_001377236.1(AHRR):c.908+115C>A"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=4429315[alleleid]",
        "alleleId": 4429315,
        "preferredName": "NM_001377236.1(AHRR):c.908+115C>A"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4316374",
        "RCV": [
          "RCV005971344"
        ],
        "variationId": 4316374
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.428236C>A?assembly=hg19",
        "id": "chr5:g.428236C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.428121C>A?assembly=hg38",
        "id": "chr5:g.428121C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/12188164",
        "rs": 12188164
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-428236-C-A?dataset=gnomad_r2_1",
        "id": "5-428236-C-A",
        "variant": "5:428236 C / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-428121-C-A?dataset=gnomad_r3",
        "id": "5-428121-C-A",
        "variant": "5:428121 C / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-428121-C-A?dataset=gnomad_r4",
        "id": "5-428121-C-A",
        "variant": "5:428121 C / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 428121,
          "referenceAllele": "C",
          "start": 428120
        }
      ],
      "hgvs": [
        "NC_000005.10:g.428121C>A",
        "CM000667.2:g.428121C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 428236,
          "referenceAllele": "C",
          "start": 428235
        }
      ],
      "hgvs": [
        "NC_000005.9:g.428236C>A",
        "CM000667.1:g.428236C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 481236,
          "referenceAllele": "C",
          "start": 481235
        }
      ],
      "hgvs": [
        "NC_000005.8:g.481236C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 128946,
          "referenceAllele": "C",
          "start": 128945
        }
      ],
      "hgvs": [
        "NG_029834.1:g.128946C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004698"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 128946,
          "referenceAllele": "C",
          "start": 128945
        }
      ],
      "hgvs": [
        "NG_029834.2:g.128946C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673820"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1024,
          "endIntronDirection": "+",
          "endIntronOffset": 115,
          "referenceAllele": "C",
          "start": 1024,
          "startIntronDirection": "+",
          "startIntronOffset": 114
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000346",
      "geneNCBI_id": 57491,
      "geneSymbol": "AHRR",
      "hgvs": [
        "ENST00000684583.1:c.908+115C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507476.1:n.908+115C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829535",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000684583.1:c.908+115C>A"
          },
          "RefSeq": {
            "hgvs": "NM_001377236.1:c.908+115C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000507476.1:n.908+115C>A"
          },
          "RefSeq": {
            "hgvs": "NP_001364165.1:n.908+115C>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 994,
          "endIntronDirection": "+",
          "endIntronOffset": 115,
          "referenceAllele": "C",
          "start": 994,
          "startIntronDirection": "+",
          "startIntronOffset": 114
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000346",
      "geneNCBI_id": 57491,
      "geneSymbol": "AHRR",
      "hgvs": [
        "ENST00000316418.10:c.908+115C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000323816.6:n.908+115C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746058"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1177,
          "endIntronDirection": "+",
          "endIntronOffset": 115,
          "referenceAllele": "C",
          "start": 1177,
          "startIntronDirection": "+",
          "startIntronOffset": 114
        }
      ],
      "gene": "http://reg.genome.network/gene/GN054724",
      "geneNCBI_id": 116412618,
      "geneSymbol": "PDCD6-AHRR",
      "hgvs": [
        "ENST00000505113.6:c.*904+115C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424601.2:n.*904+115C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758043"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 667,
          "endIntronDirection": "+",
          "endIntronOffset": 115,
          "referenceAllele": "C",
          "start": 667,
          "startIntronDirection": "+",
          "startIntronOffset": 114
        }
      ],
      "gene": "http://reg.genome.network/gene/GN054724",
      "geneNCBI_id": 116412618,
      "geneSymbol": "PDCD6-AHRR",
      "hgvs": [
        "ENST00000512529.6:n.667+115C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS758281"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1231,
          "endIntronDirection": "+",
          "endIntronOffset": 115,
          "referenceAllele": "C",
          "start": 1231,
          "startIntronDirection": "+",
          "startIntronOffset": 114
        }
      ],
      "gene": "http://reg.genome.network/gene/GN054724",
      "geneNCBI_id": 116412618,
      "geneSymbol": "PDCD6-AHRR",
      "hgvs": [
        "ENST00000675395.1:c.*958+115C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502570.1:n.*958+115C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775221"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1018,
          "endIntronDirection": "+",
          "endIntronOffset": 115,
          "referenceAllele": "C",
          "start": 1018,
          "startIntronDirection": "+",
          "startIntronOffset": 114
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000346",
      "geneNCBI_id": 57491,
      "geneSymbol": "AHRR",
      "hgvs": [
        "ENST00000316418.9:c.974+115C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000323816.5:n.974+115C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257223"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 964,
          "endIntronDirection": "+",
          "endIntronOffset": 115,
          "referenceAllele": "C",
          "start": 964,
          "startIntronDirection": "+",
          "startIntronOffset": 114
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000346",
      "geneNCBI_id": 57491,
      "geneSymbol": "AHRR",
      "hgvs": [
        "ENST00000505113.5:c.920+115C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424601.1:n.920+115C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS336986"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 888,
          "endIntronDirection": "+",
          "endIntronOffset": 115,
          "referenceAllele": "C",
          "start": 888,
          "startIntronDirection": "+",
          "startIntronOffset": 114
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000346",
      "geneNCBI_id": 57491,
      "geneSymbol": "AHRR",
      "hgvs": [
        "ENST00000506456.1:c.488+115C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426932.1:n.488+115C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS337990"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 89,
          "endIntronDirection": "+",
          "endIntronOffset": 115,
          "referenceAllele": "C",
          "start": 89,
          "startIntronDirection": "+",
          "startIntronOffset": 114
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000346",
      "geneNCBI_id": 57491,
      "geneSymbol": "AHRR",
      "hgvs": [
        "ENST00000511487.1:c.89+115C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426076.1:n.89+115C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS341743"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 667,
          "endIntronDirection": "+",
          "endIntronOffset": 115,
          "referenceAllele": "C",
          "start": 667,
          "startIntronDirection": "+",
          "startIntronOffset": 114
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000346",
      "geneNCBI_id": 57491,
      "geneSymbol": "AHRR",
      "hgvs": [
        "ENST00000512529.5:c.458+115C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424880.1:n.458+115C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS342518"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 964,
          "endIntronDirection": "+",
          "endIntronOffset": 115,
          "referenceAllele": "C",
          "start": 964,
          "startIntronDirection": "+",
          "startIntronOffset": 114
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000346",
      "geneNCBI_id": 57491,
      "geneSymbol": "AHRR",
      "hgvs": [
        "NM_001242412.1:c.920+115C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001229341.1:n.920+115C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018112"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1018,
          "endIntronDirection": "+",
          "endIntronOffset": 115,
          "referenceAllele": "C",
          "start": 1018,
          "startIntronDirection": "+",
          "startIntronOffset": 114
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000346",
      "geneNCBI_id": 57491,
      "geneSymbol": "AHRR",
      "hgvs": [
        "NM_020731.4:c.974+115C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_065782.2:n.974+115C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036538"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1024,
          "endIntronDirection": "+",
          "endIntronOffset": 115,
          "referenceAllele": "C",
          "start": 1024,
          "startIntronDirection": "+",
          "startIntronOffset": 114
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000346",
      "geneNCBI_id": 57491,
      "geneSymbol": "AHRR",
      "hgvs": [
        "NM_001377236.1:c.908+115C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001364165.1:n.908+115C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695023",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000684583.1:c.908+115C>A"
          },
          "RefSeq": {
            "hgvs": "NM_001377236.1:c.908+115C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000507476.1:n.908+115C>A"
          },
          "RefSeq": {
            "hgvs": "NP_001364165.1:n.908+115C>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 971,
          "endIntronDirection": "+",
          "endIntronOffset": 115,
          "referenceAllele": "C",
          "start": 971,
          "startIntronDirection": "+",
          "startIntronOffset": 114
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000346",
      "geneNCBI_id": 57491,
      "geneSymbol": "AHRR",
      "hgvs": [
        "NM_001377239.1:c.908+115C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001364168.1:n.908+115C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695026"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1255,
          "endIntronDirection": "+",
          "endIntronOffset": 115,
          "referenceAllele": "C",
          "start": 1255,
          "startIntronDirection": "+",
          "startIntronOffset": 114
        }
      ],
      "gene": "http://reg.genome.network/gene/GN054724",
      "geneNCBI_id": 116412618,
      "geneSymbol": "PDCD6-AHRR",
      "hgvs": [
        "NR_165159.2:n.1255+115C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706019"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1201,
          "endIntronDirection": "+",
          "endIntronOffset": 115,
          "referenceAllele": "C",
          "start": 1201,
          "startIntronDirection": "+",
          "startIntronOffset": 114
        }
      ],
      "gene": "http://reg.genome.network/gene/GN054724",
      "geneNCBI_id": 116412618,
      "geneSymbol": "PDCD6-AHRR",
      "hgvs": [
        "NR_165163.2:n.1201+115C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706023"
    }
  ],
  "type": "nucleotide"
}