{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA348053034",
  "communityStandardTitle": [
    "NM_022336.4(EDAR):c.655+32C>A"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.109527371G>T?assembly=hg19",
        "id": "chr2:g.109527371G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.108910915G>T?assembly=hg38",
        "id": "chr2:g.108910915G>T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 108910915,
          "referenceAllele": "G",
          "start": 108910914
        }
      ],
      "hgvs": [
        "NC_000002.12:g.108910915G>T",
        "CM000664.2:g.108910915G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 109527371,
          "referenceAllele": "G",
          "start": 109527370
        }
      ],
      "hgvs": [
        "NC_000002.11:g.109527371G>T",
        "CM000664.1:g.109527371G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 108893803,
          "referenceAllele": "G",
          "start": 108893802
        }
      ],
      "hgvs": [
        "NC_000002.10:g.108893803G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 83458,
          "referenceAllele": "C",
          "start": 83457
        }
      ],
      "hgvs": [
        "NG_008257.1:g.83458C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000983"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 934,
          "endIntronDirection": "+",
          "endIntronOffset": 32,
          "referenceAllele": "C",
          "start": 934,
          "startIntronDirection": "+",
          "startIntronOffset": 31
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002895",
      "geneNCBI_id": 10913,
      "geneSymbol": "EDAR",
      "hgvs": [
        "ENST00000258443.7:c.655+32C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000258443.2:n.655+32C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741912",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000258443.7:c.655+32C>A"
          },
          "RefSeq": {
            "hgvs": "NM_022336.4:c.655+32C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000258443.2:n.655+32C>A"
          },
          "RefSeq": {
            "hgvs": "NP_071731.1:n.655+32C>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1086,
          "endIntronDirection": "+",
          "endIntronOffset": 32,
          "referenceAllele": "C",
          "start": 1086,
          "startIntronDirection": "+",
          "startIntronOffset": 31
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002895",
      "geneNCBI_id": 10913,
      "geneSymbol": "EDAR",
      "hgvs": [
        "ENST00000258443.6:c.655+32C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000258443.2:n.655+32C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250390"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1118,
          "referenceAllele": "C",
          "start": 1117
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002895",
      "geneNCBI_id": 10913,
      "geneSymbol": "EDAR",
      "hgvs": [
        "ENST00000376651.1:c.687C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365839.1:p.Phe229Leu",
        "hgvsWellDefined": "ENSP00000365839.1:p.Phe229Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271256"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1131,
          "referenceAllele": "C",
          "start": 1130
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002895",
      "geneNCBI_id": 10913,
      "geneSymbol": "EDAR",
      "hgvs": [
        "ENST00000409271.5:c.687C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386371.1:p.Phe229Leu",
        "hgvsWellDefined": "ENSP00000386371.1:p.Phe229Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281402"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1086,
          "endIntronDirection": "+",
          "endIntronOffset": 32,
          "referenceAllele": "C",
          "start": 1086,
          "startIntronDirection": "+",
          "startIntronOffset": 31
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002895",
      "geneNCBI_id": 10913,
      "geneSymbol": "EDAR",
      "hgvs": [
        "NM_022336.3:c.655+32C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_071731.1:n.655+32C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037269"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1002,
          "referenceAllele": "C",
          "start": 1001
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002895",
      "geneNCBI_id": 10913,
      "geneSymbol": "EDAR",
      "hgvs": [
        "XM_006712204.1:c.687C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006712267.1:p.Phe229Leu",
        "hgvsWellDefined": "XP_006712267.1:p.Phe229Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069518"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 762,
          "referenceAllele": "C",
          "start": 761
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002895",
      "geneNCBI_id": 10913,
      "geneSymbol": "EDAR",
      "hgvs": [
        "XM_011510502.1:c.738C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508804.1:p.Phe246Leu",
        "hgvsWellDefined": "XP_011508804.1:p.Phe246Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS077766"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 730,
          "endIntronDirection": "+",
          "endIntronOffset": 32,
          "referenceAllele": "C",
          "start": 730,
          "startIntronDirection": "+",
          "startIntronOffset": 31
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002895",
      "geneNCBI_id": 10913,
      "geneSymbol": "EDAR",
      "hgvs": [
        "XM_011510503.1:c.706+32C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508805.1:n.706+32C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS077767"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 305,
          "endIntronDirection": "+",
          "endIntronOffset": 32,
          "referenceAllele": "C",
          "start": 305,
          "startIntronDirection": "+",
          "startIntronOffset": 31
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002895",
      "geneNCBI_id": 10913,
      "geneSymbol": "EDAR",
      "hgvs": [
        "XM_011510504.1:c.82+32C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508806.1:n.82+32C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS077768"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 881,
          "referenceAllele": "C",
          "start": 880
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002895",
      "geneNCBI_id": 10913,
      "geneSymbol": "EDAR",
      "hgvs": [
        "XM_011510502.2:c.831C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508804.2:p.Phe277Leu",
        "hgvsWellDefined": "XP_011508804.2:p.Phe277Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541738"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 842,
          "endIntronDirection": "+",
          "endIntronOffset": 32,
          "referenceAllele": "C",
          "start": 842,
          "startIntronDirection": "+",
          "startIntronOffset": 31
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002895",
      "geneNCBI_id": 10913,
      "geneSymbol": "EDAR",
      "hgvs": [
        "XM_011510503.2:c.799+32C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508805.2:n.799+32C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541739"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8531,
          "endIntronDirection": "+",
          "endIntronOffset": 137869,
          "referenceAllele": "G",
          "start": 8531,
          "startIntronDirection": "+",
          "startIntronOffset": 137868
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009848",
      "geneNCBI_id": 5903,
      "geneSymbol": "RANBP2",
      "hgvs": [
        "XM_017004623.2:c.8370+137869G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860112.1:n.8370+137869G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560085"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 934,
          "endIntronDirection": "+",
          "endIntronOffset": 32,
          "referenceAllele": "C",
          "start": 934,
          "startIntronDirection": "+",
          "startIntronOffset": 31
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002895",
      "geneNCBI_id": 10913,
      "geneSymbol": "EDAR",
      "hgvs": [
        "NM_022336.4:c.655+32C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_071731.1:n.655+32C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670410",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000258443.7:c.655+32C>A"
          },
          "RefSeq": {
            "hgvs": "NM_022336.4:c.655+32C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000258443.2:n.655+32C>A"
          },
          "RefSeq": {
            "hgvs": "NP_071731.1:n.655+32C>A"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}