{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA255650",
  "communityStandardTitle": [
    "NM_001399.5(EDA):c.206G>T (p.Arg69Leu)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "active": false,
        "id": "COSM3914160"
      },
      {
        "active": false,
        "id": "COSM3914161"
      },
      {
        "active": false,
        "id": "COSM3914162"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=26071[alleleid]",
        "alleleId": 26071,
        "preferredName": "NM_001399.5(EDA):c.206G>T (p.Arg69Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/11032",
        "RCV": [
          "RCV000011779",
          "RCV000218834",
          "RCV000432524",
          "RCV003894799"
        ],
        "variationId": 11032
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/X-68836358-G-T",
        "id": "X-68836358-G-T",
        "variant": "X:68836358 G / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.68836358G>T?assembly=hg19",
        "id": "chrX:g.68836358G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.69616514G>T?assembly=hg38",
        "id": "chrX:g.69616514G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/132630309",
        "rs": 132630309
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-68836358-G-T?dataset=gnomad_r2_1",
        "id": "X-68836358-G-T",
        "variant": "X:68836358 G / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-69616514-G-T?dataset=gnomad_r3",
        "id": "X-69616514-G-T",
        "variant": "X:69616514 G / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-69616514-G-T?dataset=gnomad_r4",
        "id": "X-69616514-G-T",
        "variant": "X:69616514 G / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 69616514,
          "referenceAllele": "G",
          "start": 69616513
        }
      ],
      "hgvs": [
        "NC_000023.11:g.69616514G>T",
        "CM000685.2:g.69616514G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 68836358,
          "referenceAllele": "G",
          "start": 68836357
        }
      ],
      "hgvs": [
        "NC_000023.10:g.68836358G>T",
        "CM000685.1:g.68836358G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 68753083,
          "referenceAllele": "G",
          "start": 68753082
        }
      ],
      "hgvs": [
        "NC_000023.9:g.68753083G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5448,
          "referenceAllele": "G",
          "start": 5447
        }
      ],
      "hgvs": [
        "NG_009809.1:g.5448G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001649"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5448,
          "referenceAllele": "G",
          "start": 5447
        }
      ],
      "hgvs": [
        "NG_009809.2:g.5448G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616133"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 402,
          "referenceAllele": "G",
          "start": 401
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003157",
      "geneNCBI_id": 1896,
      "geneSymbol": "EDA",
      "hgvs": [
        "ENST00000374552.9:c.206G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363680.4:p.Arg69Leu",
        "hgvsWellDefined": "ENSP00000363680.4:p.Arg69Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751457",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374552.9:c.206G>T"
          },
          "RefSeq": {
            "hgvs": "NM_001399.5:c.206G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363680.4:p.Arg69Leu"
          },
          "RefSeq": {
            "hgvs": "NP_001390.1:p.Arg69Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 448,
          "referenceAllele": "G",
          "start": 447
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003157",
      "geneNCBI_id": 1896,
      "geneSymbol": "EDA",
      "hgvs": [
        "ENST00000338901.4:c.206G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000340611.4:p.Arg69Leu",
        "hgvsWellDefined": "ENSP00000340611.4:p.Arg69Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260752"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 448,
          "referenceAllele": "G",
          "start": 447
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003157",
      "geneNCBI_id": 1896,
      "geneSymbol": "EDA",
      "hgvs": [
        "ENST00000374548.5:n.448G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS270299"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 448,
          "referenceAllele": "G",
          "start": 447
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003157",
      "geneNCBI_id": 1896,
      "geneSymbol": "EDA",
      "hgvs": [
        "ENST00000374552.8:c.206G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363680.4:p.Arg69Leu",
        "hgvsWellDefined": "ENSP00000363680.4:p.Arg69Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270301"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 448,
          "referenceAllele": "G",
          "start": 447
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003157",
      "geneNCBI_id": 1896,
      "geneSymbol": "EDA",
      "hgvs": [
        "ENST00000374553.6:c.206G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363681.2:p.Arg69Leu",
        "hgvsWellDefined": "ENSP00000363681.2:p.Arg69Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270302"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 448,
          "referenceAllele": "G",
          "start": 447
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003157",
      "geneNCBI_id": 1896,
      "geneSymbol": "EDA",
      "hgvs": [
        "ENST00000502251.5:n.448G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS334864"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 398,
          "referenceAllele": "G",
          "start": 397
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003157",
      "geneNCBI_id": 1896,
      "geneSymbol": "EDA",
      "hgvs": [
        "ENST00000524573.5:c.206G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000432585.1:p.Arg69Leu",
        "hgvsWellDefined": "ENSP00000432585.1:p.Arg69Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS350709"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 448,
          "referenceAllele": "G",
          "start": 447
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003157",
      "geneNCBI_id": 1896,
      "geneSymbol": "EDA",
      "hgvs": [
        "ENST00000525810.5:c.206G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434195.1:p.Arg69Leu",
        "hgvsWellDefined": "ENSP00000434195.1:p.Arg69Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS351777"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 448,
          "referenceAllele": "G",
          "start": 447
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003157",
      "geneNCBI_id": 1896,
      "geneSymbol": "EDA",
      "hgvs": [
        "ENST00000527388.5:c.206G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434861.1:p.Arg69Leu",
        "hgvsWellDefined": "ENSP00000434861.1:p.Arg69Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS353102"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 448,
          "referenceAllele": "G",
          "start": 447
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003157",
      "geneNCBI_id": 1896,
      "geneSymbol": "EDA",
      "hgvs": [
        "ENST00000533317.5:n.448G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS358110"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825273879",
      "coordinates": [
        {
          "allele": "T",
          "end": 448,
          "referenceAllele": "G",
          "start": 447
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003157",
      "geneNCBI_id": 1896,
      "geneSymbol": "EDA",
      "hgvs": [
        "NM_001005609.1:c.206G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001005609.1:p.Arg69Leu",
        "hgvsWellDefined": "NP_001005609.1:p.Arg69Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007764"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825274218",
      "coordinates": [
        {
          "allele": "T",
          "end": 448,
          "referenceAllele": "G",
          "start": 447
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003157",
      "geneNCBI_id": 1896,
      "geneSymbol": "EDA",
      "hgvs": [
        "NM_001005610.3:c.206G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001005610.2:p.Arg69Leu",
        "hgvsWellDefined": "NP_001005610.2:p.Arg69Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007765"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825274298",
      "coordinates": [
        {
          "allele": "T",
          "end": 448,
          "referenceAllele": "G",
          "start": 447
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003157",
      "geneNCBI_id": 1896,
      "geneSymbol": "EDA",
      "hgvs": [
        "NM_001005612.2:c.206G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001005612.2:p.Arg69Leu",
        "hgvsWellDefined": "NP_001005612.2:p.Arg69Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007766"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825274628",
      "coordinates": [
        {
          "allele": "T",
          "end": 448,
          "referenceAllele": "G",
          "start": 447
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003157",
      "geneNCBI_id": 1896,
      "geneSymbol": "EDA",
      "hgvs": [
        "NM_001005613.3:c.206G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001005613.1:p.Arg69Leu",
        "hgvsWellDefined": "NP_001005613.1:p.Arg69Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007767"
    },
    {
      "@id": "http://reg.genome.network/allele/PA095537",
      "coordinates": [
        {
          "allele": "T",
          "end": 448,
          "referenceAllele": "G",
          "start": 447
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003157",
      "geneNCBI_id": 1896,
      "geneSymbol": "EDA",
      "hgvs": [
        "NM_001399.4:c.206G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001390.1:p.Arg69Leu",
        "hgvsWellDefined": "NP_001390.1:p.Arg69Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026785"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 429,
          "referenceAllele": "G",
          "start": 428
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003157",
      "geneNCBI_id": 1896,
      "geneSymbol": "EDA",
      "hgvs": [
        "XM_006724630.2:c.206G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724693.1:p.Arg69Leu",
        "hgvsWellDefined": "XP_006724693.1:p.Arg69Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075630"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 429,
          "referenceAllele": "G",
          "start": 428
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003157",
      "geneNCBI_id": 1896,
      "geneSymbol": "EDA",
      "hgvs": [
        "XM_011530885.1:c.206G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529187.1:p.Arg69Leu",
        "hgvsWellDefined": "XP_011529187.1:p.Arg69Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097926"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 429,
          "referenceAllele": "G",
          "start": 428
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003157",
      "geneNCBI_id": 1896,
      "geneSymbol": "EDA",
      "hgvs": [
        "XM_011530885.2:c.206G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529187.1:p.Arg69Leu",
        "hgvsWellDefined": "XP_011529187.1:p.Arg69Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550148"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 429,
          "referenceAllele": "G",
          "start": 428
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003157",
      "geneNCBI_id": 1896,
      "geneSymbol": "EDA",
      "hgvs": [
        "XM_017029336.1:c.206G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884825.1:p.Arg69Leu",
        "hgvsWellDefined": "XP_016884825.1:p.Arg69Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578900"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 429,
          "referenceAllele": "G",
          "start": 428
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003157",
      "geneNCBI_id": 1896,
      "geneSymbol": "EDA",
      "hgvs": [
        "XM_017029337.1:c.206G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884826.1:p.Arg69Leu",
        "hgvsWellDefined": "XP_016884826.1:p.Arg69Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578901"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 429,
          "referenceAllele": "G",
          "start": 428
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003157",
      "geneNCBI_id": 1896,
      "geneSymbol": "EDA",
      "hgvs": [
        "XR_001755660.1:n.429G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS601295"
    },
    {
      "@id": "http://reg.genome.network/allele/PA095537",
      "coordinates": [
        {
          "allele": "T",
          "end": 402,
          "referenceAllele": "G",
          "start": 401
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003157",
      "geneNCBI_id": 1896,
      "geneSymbol": "EDA",
      "hgvs": [
        "NM_001399.5:c.206G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001390.1:p.Arg69Leu",
        "hgvsWellDefined": "NP_001390.1:p.Arg69Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS664968",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374552.9:c.206G>T"
          },
          "RefSeq": {
            "hgvs": "NM_001399.5:c.206G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363680.4:p.Arg69Leu"
          },
          "RefSeq": {
            "hgvs": "NP_001390.1:p.Arg69Leu"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825273879",
      "coordinates": [
        {
          "allele": "T",
          "end": 402,
          "referenceAllele": "G",
          "start": 401
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003157",
      "geneNCBI_id": 1896,
      "geneSymbol": "EDA",
      "hgvs": [
        "NM_001005609.2:c.206G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001005609.1:p.Arg69Leu",
        "hgvsWellDefined": "NP_001005609.1:p.Arg69Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675202"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825274218",
      "coordinates": [
        {
          "allele": "T",
          "end": 402,
          "referenceAllele": "G",
          "start": 401
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003157",
      "geneNCBI_id": 1896,
      "geneSymbol": "EDA",
      "hgvs": [
        "NM_001005610.4:c.206G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001005610.2:p.Arg69Leu",
        "hgvsWellDefined": "NP_001005610.2:p.Arg69Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675203"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825274298",
      "coordinates": [
        {
          "allele": "T",
          "end": 402,
          "referenceAllele": "G",
          "start": 401
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003157",
      "geneNCBI_id": 1896,
      "geneSymbol": "EDA",
      "hgvs": [
        "NM_001005612.3:c.206G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001005612.2:p.Arg69Leu",
        "hgvsWellDefined": "NP_001005612.2:p.Arg69Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675204"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825274628",
      "coordinates": [
        {
          "allele": "T",
          "end": 402,
          "referenceAllele": "G",
          "start": 401
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003157",
      "geneNCBI_id": 1896,
      "geneSymbol": "EDA",
      "hgvs": [
        "NM_001005613.4:c.206G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001005613.1:p.Arg69Leu",
        "hgvsWellDefined": "NP_001005613.1:p.Arg69Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675205"
    }
  ],
  "type": "nucleotide"
}