{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA121313",
  "communityStandardTitle": [
    "NM_001399.5(EDA):c.1072C>G (p.Gln358Glu)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=26084[alleleid]",
        "alleleId": 26084,
        "preferredName": "NM_001399.5(EDA):c.1072C>G (p.Gln358Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/11045",
        "RCV": [
          "RCV000011792"
        ],
        "variationId": 11045
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.69255355C>G?assembly=hg19",
        "id": "chrX:g.69255355C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.70035505C>G?assembly=hg38",
        "id": "chrX:g.70035505C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/132630320",
        "rs": 132630320
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 70035505,
          "referenceAllele": "C",
          "start": 70035504
        }
      ],
      "hgvs": [
        "NC_000023.11:g.70035505C>G",
        "CM000685.2:g.70035505C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 69255355,
          "referenceAllele": "C",
          "start": 69255354
        }
      ],
      "hgvs": [
        "NC_000023.10:g.69255355C>G",
        "CM000685.1:g.69255355C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 69172080,
          "referenceAllele": "C",
          "start": 69172079
        }
      ],
      "hgvs": [
        "NC_000023.9:g.69172080C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 424445,
          "referenceAllele": "C",
          "start": 424444
        }
      ],
      "hgvs": [
        "NG_009809.1:g.424445C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001649"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 424439,
          "referenceAllele": "C",
          "start": 424438
        }
      ],
      "hgvs": [
        "NG_009809.2:g.424439C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616133"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1268,
          "referenceAllele": "C",
          "start": 1267
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003157",
      "geneNCBI_id": 1896,
      "geneSymbol": "EDA",
      "hgvs": [
        "ENST00000374552.9:c.1072C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363680.4:p.Gln358Glu",
        "hgvsWellDefined": "ENSP00000363680.4:p.Gln358Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751457",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374552.9:c.1072C>G"
          },
          "RefSeq": {
            "hgvs": "NM_001399.5:c.1072C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363680.4:p.Gln358Glu"
          },
          "RefSeq": {
            "hgvs": "NP_001390.1:p.Gln358Glu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1314,
          "referenceAllele": "C",
          "start": 1313
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003157",
      "geneNCBI_id": 1896,
      "geneSymbol": "EDA",
      "hgvs": [
        "ENST00000374552.8:c.1072C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363680.4:p.Gln358Glu",
        "hgvsWellDefined": "ENSP00000363680.4:p.Gln358Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270301"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1308,
          "referenceAllele": "C",
          "start": 1307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003157",
      "geneNCBI_id": 1896,
      "geneSymbol": "EDA",
      "hgvs": [
        "ENST00000374553.6:c.1066C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363681.2:p.Gln356Glu",
        "hgvsWellDefined": "ENSP00000363681.2:p.Gln356Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270302"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1249,
          "referenceAllele": "C",
          "start": 1248
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003157",
      "geneNCBI_id": 1896,
      "geneSymbol": "EDA",
      "hgvs": [
        "ENST00000524573.5:c.1057C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000432585.1:p.Gln353Glu",
        "hgvsWellDefined": "ENSP00000432585.1:p.Gln353Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS350709"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 679,
          "referenceAllele": "C",
          "start": 678
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003157",
      "geneNCBI_id": 1896,
      "geneSymbol": "EDA",
      "hgvs": [
        "ENST00000616899.1:c.676C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481963.1:p.Gln226Glu",
        "hgvsWellDefined": "ENSP00000481963.1:p.Gln226Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403256"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825274130",
      "coordinates": [
        {
          "allele": "G",
          "end": 1308,
          "referenceAllele": "C",
          "start": 1307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003157",
      "geneNCBI_id": 1896,
      "geneSymbol": "EDA",
      "hgvs": [
        "NM_001005609.1:c.1066C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001005609.1:p.Gln356Glu",
        "hgvsWellDefined": "NP_001005609.1:p.Gln356Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007764"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825274541",
      "coordinates": [
        {
          "allele": "G",
          "end": 1299,
          "referenceAllele": "C",
          "start": 1298
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003157",
      "geneNCBI_id": 1896,
      "geneSymbol": "EDA",
      "hgvs": [
        "NM_001005612.2:c.1057C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001005612.2:p.Gln353Glu",
        "hgvsWellDefined": "NP_001005612.2:p.Gln353Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007766"
    },
    {
      "@id": "http://reg.genome.network/allele/PA095611",
      "coordinates": [
        {
          "allele": "G",
          "end": 1314,
          "referenceAllele": "C",
          "start": 1313
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003157",
      "geneNCBI_id": 1896,
      "geneSymbol": "EDA",
      "hgvs": [
        "NM_001399.4:c.1072C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001390.1:p.Gln358Glu",
        "hgvsWellDefined": "NP_001390.1:p.Gln358Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026785"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1286,
          "referenceAllele": "C",
          "start": 1285
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003157",
      "geneNCBI_id": 1896,
      "geneSymbol": "EDA",
      "hgvs": [
        "XM_006724630.2:c.1063C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724693.1:p.Gln355Glu",
        "hgvsWellDefined": "XP_006724693.1:p.Gln355Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075630"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1253,
          "referenceAllele": "C",
          "start": 1252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003157",
      "geneNCBI_id": 1896,
      "geneSymbol": "EDA",
      "hgvs": [
        "XM_017029336.1:c.1030C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884825.1:p.Gln344Glu",
        "hgvsWellDefined": "XP_016884825.1:p.Gln344Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578900"
    },
    {
      "@id": "http://reg.genome.network/allele/PA095611",
      "coordinates": [
        {
          "allele": "G",
          "end": 1268,
          "referenceAllele": "C",
          "start": 1267
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003157",
      "geneNCBI_id": 1896,
      "geneSymbol": "EDA",
      "hgvs": [
        "NM_001399.5:c.1072C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001390.1:p.Gln358Glu",
        "hgvsWellDefined": "NP_001390.1:p.Gln358Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS664968",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374552.9:c.1072C>G"
          },
          "RefSeq": {
            "hgvs": "NM_001399.5:c.1072C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363680.4:p.Gln358Glu"
          },
          "RefSeq": {
            "hgvs": "NP_001390.1:p.Gln358Glu"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825274130",
      "coordinates": [
        {
          "allele": "G",
          "end": 1262,
          "referenceAllele": "C",
          "start": 1261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003157",
      "geneNCBI_id": 1896,
      "geneSymbol": "EDA",
      "hgvs": [
        "NM_001005609.2:c.1066C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001005609.1:p.Gln356Glu",
        "hgvsWellDefined": "NP_001005609.1:p.Gln356Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675202"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825274541",
      "coordinates": [
        {
          "allele": "G",
          "end": 1253,
          "referenceAllele": "C",
          "start": 1252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003157",
      "geneNCBI_id": 1896,
      "geneSymbol": "EDA",
      "hgvs": [
        "NM_001005612.3:c.1057C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001005612.2:p.Gln353Glu",
        "hgvsWellDefined": "NP_001005612.2:p.Gln353Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675204"
    }
  ],
  "type": "nucleotide"
}