{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA348047750",
  "communityStandardTitle": [
    "NM_022336.4(EDAR):c.1259G>C (p.Arg420Pro)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.109513451C>G?assembly=hg19",
        "id": "chr2:g.109513451C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.108896995C>G?assembly=hg38",
        "id": "chr2:g.108896995C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121908453",
        "rs": 121908453
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 108896995,
          "referenceAllele": "C",
          "start": 108896994
        }
      ],
      "hgvs": [
        "NC_000002.12:g.108896995C>G",
        "CM000664.2:g.108896995C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 109513451,
          "referenceAllele": "C",
          "start": 109513450
        }
      ],
      "hgvs": [
        "NC_000002.11:g.109513451C>G",
        "CM000664.1:g.109513451C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 108879883,
          "referenceAllele": "C",
          "start": 108879882
        }
      ],
      "hgvs": [
        "NC_000002.10:g.108879883C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 97378,
          "referenceAllele": "G",
          "start": 97377
        }
      ],
      "hgvs": [
        "NG_008257.1:g.97378G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000983"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1538,
          "referenceAllele": "G",
          "start": 1537
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002895",
      "geneNCBI_id": 10913,
      "geneSymbol": "EDAR",
      "hgvs": [
        "ENST00000258443.7:c.1259G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000258443.2:p.Arg420Pro",
        "hgvsWellDefined": "ENSP00000258443.2:p.Arg420Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741912",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000258443.7:c.1259G>C"
          },
          "RefSeq": {
            "hgvs": "NM_022336.4:c.1259G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000258443.2:p.Arg420Pro"
          },
          "RefSeq": {
            "hgvs": "NP_071731.1:p.Arg420Pro"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1690,
          "referenceAllele": "G",
          "start": 1689
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002895",
      "geneNCBI_id": 10913,
      "geneSymbol": "EDAR",
      "hgvs": [
        "ENST00000258443.6:c.1259G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000258443.2:p.Arg420Pro",
        "hgvsWellDefined": "ENSP00000258443.2:p.Arg420Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250390"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1786,
          "referenceAllele": "G",
          "start": 1785
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002895",
      "geneNCBI_id": 10913,
      "geneSymbol": "EDAR",
      "hgvs": [
        "ENST00000376651.1:c.1355G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365839.1:p.Arg452Pro",
        "hgvsWellDefined": "ENSP00000365839.1:p.Arg452Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271256"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1799,
          "referenceAllele": "G",
          "start": 1798
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002895",
      "geneNCBI_id": 10913,
      "geneSymbol": "EDAR",
      "hgvs": [
        "ENST00000409271.5:c.1355G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386371.1:p.Arg452Pro",
        "hgvsWellDefined": "ENSP00000386371.1:p.Arg452Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281402"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3066526858",
      "coordinates": [
        {
          "allele": "C",
          "end": 1690,
          "referenceAllele": "G",
          "start": 1689
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002895",
      "geneNCBI_id": 10913,
      "geneSymbol": "EDAR",
      "hgvs": [
        "NM_022336.3:c.1259G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_071731.1:p.Arg420Pro",
        "hgvsWellDefined": "NP_071731.1:p.Arg420Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037269"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1670,
          "referenceAllele": "G",
          "start": 1669
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002895",
      "geneNCBI_id": 10913,
      "geneSymbol": "EDAR",
      "hgvs": [
        "XM_006712204.1:c.1355G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006712267.1:p.Arg452Pro",
        "hgvsWellDefined": "XP_006712267.1:p.Arg452Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069518"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1430,
          "referenceAllele": "G",
          "start": 1429
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002895",
      "geneNCBI_id": 10913,
      "geneSymbol": "EDAR",
      "hgvs": [
        "XM_011510502.1:c.1406G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508804.1:p.Arg469Pro",
        "hgvsWellDefined": "XP_011508804.1:p.Arg469Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS077766"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1334,
          "referenceAllele": "G",
          "start": 1333
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002895",
      "geneNCBI_id": 10913,
      "geneSymbol": "EDAR",
      "hgvs": [
        "XM_011510503.1:c.1310G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508805.1:p.Arg437Pro",
        "hgvsWellDefined": "XP_011508805.1:p.Arg437Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS077767"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 909,
          "referenceAllele": "G",
          "start": 908
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002895",
      "geneNCBI_id": 10913,
      "geneSymbol": "EDAR",
      "hgvs": [
        "XM_011510504.1:c.686G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508806.1:p.Arg229Pro",
        "hgvsWellDefined": "XP_011508806.1:p.Arg229Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS077768"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1549,
          "referenceAllele": "G",
          "start": 1548
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002895",
      "geneNCBI_id": 10913,
      "geneSymbol": "EDAR",
      "hgvs": [
        "XM_011510502.2:c.1499G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508804.2:p.Arg500Pro",
        "hgvsWellDefined": "XP_011508804.2:p.Arg500Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541738"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1446,
          "referenceAllele": "G",
          "start": 1445
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002895",
      "geneNCBI_id": 10913,
      "geneSymbol": "EDAR",
      "hgvs": [
        "XM_011510503.2:c.1403G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508805.2:p.Arg468Pro",
        "hgvsWellDefined": "XP_011508805.2:p.Arg468Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541739"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8531,
          "endIntronDirection": "+",
          "endIntronOffset": 123949,
          "referenceAllele": "C",
          "start": 8531,
          "startIntronDirection": "+",
          "startIntronOffset": 123948
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009848",
      "geneNCBI_id": 5903,
      "geneSymbol": "RANBP2",
      "hgvs": [
        "XM_017004623.2:c.8370+123949C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860112.1:n.8370+123949C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560085"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3066526858",
      "coordinates": [
        {
          "allele": "C",
          "end": 1538,
          "referenceAllele": "G",
          "start": 1537
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002895",
      "geneNCBI_id": 10913,
      "geneSymbol": "EDAR",
      "hgvs": [
        "NM_022336.4:c.1259G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_071731.1:p.Arg420Pro",
        "hgvsWellDefined": "NP_071731.1:p.Arg420Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670410",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000258443.7:c.1259G>C"
          },
          "RefSeq": {
            "hgvs": "NM_022336.4:c.1259G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000258443.2:p.Arg420Pro"
          },
          "RefSeq": {
            "hgvs": "NP_071731.1:p.Arg420Pro"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}