{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA261508",
  "communityStandardTitle": [
    "NM_001399.5(EDA):c.871G>A (p.Gly291Arg)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=53378[alleleid]",
        "alleleId": 53378,
        "preferredName": "NM_001399.5(EDA):c.871G>A (p.Gly291Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/44211",
        "RCV": [
          "RCV000037189",
          "RCV000256153",
          "RCV003398602"
        ],
        "variationId": 44211
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.69253325G>A?assembly=hg19",
        "id": "chrX:g.69253325G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.70033475G>A?assembly=hg38",
        "id": "chrX:g.70033475G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/397516677",
        "rs": 397516677
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-70033475-G-A?dataset=gnomad_r4",
        "id": "X-70033475-G-A",
        "variant": "X:70033475 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 70033475,
          "referenceAllele": "G",
          "start": 70033474
        }
      ],
      "hgvs": [
        "NC_000023.11:g.70033475G>A",
        "CM000685.2:g.70033475G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 69253325,
          "referenceAllele": "G",
          "start": 69253324
        }
      ],
      "hgvs": [
        "NC_000023.10:g.69253325G>A",
        "CM000685.1:g.69253325G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 69170050,
          "referenceAllele": "G",
          "start": 69170049
        }
      ],
      "hgvs": [
        "NC_000023.9:g.69170050G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 422415,
          "referenceAllele": "G",
          "start": 422414
        }
      ],
      "hgvs": [
        "NG_009809.1:g.422415G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001649"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 422409,
          "referenceAllele": "G",
          "start": 422408
        }
      ],
      "hgvs": [
        "NG_009809.2:g.422409G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616133"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1067,
          "referenceAllele": "G",
          "start": 1066
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003157",
      "geneNCBI_id": 1896,
      "geneSymbol": "EDA",
      "hgvs": [
        "ENST00000374552.9:c.871G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363680.4:p.Gly291Arg",
        "hgvsWellDefined": "ENSP00000363680.4:p.Gly291Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751457",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374552.9:c.871G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001399.5:c.871G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363680.4:p.Gly291Arg"
          },
          "RefSeq": {
            "hgvs": "NP_001390.1:p.Gly291Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1113,
          "referenceAllele": "G",
          "start": 1112
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003157",
      "geneNCBI_id": 1896,
      "geneSymbol": "EDA",
      "hgvs": [
        "ENST00000374552.8:c.871G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363680.4:p.Gly291Arg",
        "hgvsWellDefined": "ENSP00000363680.4:p.Gly291Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270301"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1113,
          "referenceAllele": "G",
          "start": 1112
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003157",
      "geneNCBI_id": 1896,
      "geneSymbol": "EDA",
      "hgvs": [
        "ENST00000374553.6:c.871G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363681.2:p.Gly291Arg",
        "hgvsWellDefined": "ENSP00000363681.2:p.Gly291Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270302"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1054,
          "referenceAllele": "G",
          "start": 1053
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003157",
      "geneNCBI_id": 1896,
      "geneSymbol": "EDA",
      "hgvs": [
        "ENST00000524573.5:c.862G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000432585.1:p.Gly288Arg",
        "hgvsWellDefined": "ENSP00000432585.1:p.Gly288Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS350709"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 478,
          "referenceAllele": "G",
          "start": 477
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003157",
      "geneNCBI_id": 1896,
      "geneSymbol": "EDA",
      "hgvs": [
        "ENST00000616899.1:c.475G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481963.1:p.Gly159Arg",
        "hgvsWellDefined": "ENSP00000481963.1:p.Gly159Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403256"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825274046",
      "coordinates": [
        {
          "allele": "A",
          "end": 1113,
          "referenceAllele": "G",
          "start": 1112
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003157",
      "geneNCBI_id": 1896,
      "geneSymbol": "EDA",
      "hgvs": [
        "NM_001005609.1:c.871G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001005609.1:p.Gly291Arg",
        "hgvsWellDefined": "NP_001005609.1:p.Gly291Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007764"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825274456",
      "coordinates": [
        {
          "allele": "A",
          "end": 1104,
          "referenceAllele": "G",
          "start": 1103
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003157",
      "geneNCBI_id": 1896,
      "geneSymbol": "EDA",
      "hgvs": [
        "NM_001005612.2:c.862G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001005612.2:p.Gly288Arg",
        "hgvsWellDefined": "NP_001005612.2:p.Gly288Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007766"
    },
    {
      "@id": "http://reg.genome.network/allele/PA095720",
      "coordinates": [
        {
          "allele": "A",
          "end": 1113,
          "referenceAllele": "G",
          "start": 1112
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003157",
      "geneNCBI_id": 1896,
      "geneSymbol": "EDA",
      "hgvs": [
        "NM_001399.4:c.871G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001390.1:p.Gly291Arg",
        "hgvsWellDefined": "NP_001390.1:p.Gly291Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026785"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1085,
          "referenceAllele": "G",
          "start": 1084
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003157",
      "geneNCBI_id": 1896,
      "geneSymbol": "EDA",
      "hgvs": [
        "XM_006724630.2:c.862G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724693.1:p.Gly288Arg",
        "hgvsWellDefined": "XP_006724693.1:p.Gly288Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075630"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1094,
          "referenceAllele": "G",
          "start": 1093
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003157",
      "geneNCBI_id": 1896,
      "geneSymbol": "EDA",
      "hgvs": [
        "XM_011530885.1:c.871G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529187.1:p.Gly291Arg",
        "hgvsWellDefined": "XP_011529187.1:p.Gly291Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097926"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1094,
          "referenceAllele": "G",
          "start": 1093
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003157",
      "geneNCBI_id": 1896,
      "geneSymbol": "EDA",
      "hgvs": [
        "XM_011530885.2:c.871G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529187.1:p.Gly291Arg",
        "hgvsWellDefined": "XP_011529187.1:p.Gly291Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550148"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1094,
          "referenceAllele": "G",
          "start": 1093
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003157",
      "geneNCBI_id": 1896,
      "geneSymbol": "EDA",
      "hgvs": [
        "XM_017029336.1:c.871G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884825.1:p.Gly291Arg",
        "hgvsWellDefined": "XP_016884825.1:p.Gly291Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578900"
    },
    {
      "@id": "http://reg.genome.network/allele/PA095720",
      "coordinates": [
        {
          "allele": "A",
          "end": 1067,
          "referenceAllele": "G",
          "start": 1066
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003157",
      "geneNCBI_id": 1896,
      "geneSymbol": "EDA",
      "hgvs": [
        "NM_001399.5:c.871G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001390.1:p.Gly291Arg",
        "hgvsWellDefined": "NP_001390.1:p.Gly291Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS664968",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374552.9:c.871G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001399.5:c.871G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363680.4:p.Gly291Arg"
          },
          "RefSeq": {
            "hgvs": "NP_001390.1:p.Gly291Arg"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825274046",
      "coordinates": [
        {
          "allele": "A",
          "end": 1067,
          "referenceAllele": "G",
          "start": 1066
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003157",
      "geneNCBI_id": 1896,
      "geneSymbol": "EDA",
      "hgvs": [
        "NM_001005609.2:c.871G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001005609.1:p.Gly291Arg",
        "hgvsWellDefined": "NP_001005609.1:p.Gly291Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675202"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825274456",
      "coordinates": [
        {
          "allele": "A",
          "end": 1058,
          "referenceAllele": "G",
          "start": 1057
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003157",
      "geneNCBI_id": 1896,
      "geneSymbol": "EDA",
      "hgvs": [
        "NM_001005612.3:c.862G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001005612.2:p.Gly288Arg",
        "hgvsWellDefined": "NP_001005612.2:p.Gly288Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675204"
    }
  ],
  "type": "nucleotide"
}