{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10404102",
  "communityStandardTitle": [
    "NM_000377.3(WAS):c.1455C>T (p.Asp485=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=537568[alleleid]",
        "alleleId": 537568,
        "preferredName": "NM_000377.3(WAS):c.1455C>T (p.Asp485=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/547079",
        "RCV": [
          "RCV000659159",
          "RCV002060788"
        ],
        "variationId": 547079
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/X-48549499-C-T",
        "id": "X-48549499-C-T",
        "variant": "X:48549499 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.48549499C>T?assembly=hg19",
        "id": "chrX:g.48549499C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.48691108C>T?assembly=hg38",
        "id": "chrX:g.48691108C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/35359501",
        "rs": 35359501
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-48549499-C-T?dataset=gnomad_r2_1",
        "id": "X-48549499-C-T",
        "variant": "X:48549499 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-48691108-C-T?dataset=gnomad_r3",
        "id": "X-48691108-C-T",
        "variant": "X:48691108 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-48691108-C-T?dataset=gnomad_r4",
        "id": "X-48691108-C-T",
        "variant": "X:48691108 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 48691108,
          "referenceAllele": "C",
          "start": 48691107
        }
      ],
      "hgvs": [
        "NC_000023.11:g.48691108C>T",
        "CM000685.2:g.48691108C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 48549499,
          "referenceAllele": "C",
          "start": 48549498
        }
      ],
      "hgvs": [
        "NC_000023.10:g.48549499C>T",
        "CM000685.1:g.48549499C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 48434443,
          "referenceAllele": "C",
          "start": 48434442
        }
      ],
      "hgvs": [
        "NC_000023.9:g.48434443C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 12314,
          "referenceAllele": "C",
          "start": 12313
        }
      ],
      "hgvs": [
        "NG_007877.1:g.12314C>T",
        "LRG_125:g.12314C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000685"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1634,
          "referenceAllele": "C",
          "start": 1633
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012731",
      "geneNCBI_id": 7454,
      "geneSymbol": "WAS",
      "hgvs": [
        "ENST00000698625.1:c.1455C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513844.1:p.Asp485="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909581"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1599,
          "referenceAllele": "C",
          "start": 1598
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012731",
      "geneNCBI_id": 7454,
      "geneSymbol": "WAS",
      "hgvs": [
        "ENST00000698626.1:c.1573C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513845.1:p.Arg525Ter",
        "hgvsWellDefined": "ENSP00000513845.1:p.Arg526_Arg532delinsGlyGlyProGlyTrpArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909582"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2461,
          "referenceAllele": "C",
          "start": 2460
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012731",
      "geneNCBI_id": 7454,
      "geneSymbol": "WAS",
      "hgvs": [
        "ENST00000698635.1:c.*639C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513850.1:n.*639C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909590"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1510,
          "referenceAllele": "C",
          "start": 1509
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012731",
      "geneNCBI_id": 7454,
      "geneSymbol": "WAS",
      "hgvs": [
        "ENST00000376701.5:c.1455C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365891.4:p.Asp485="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751803",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000376701.5:c.1455C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000377.3:c.1455C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000365891.4:p.Asp485="
          },
          "RefSeq": {
            "hgvs": "NP_000368.1:p.Asp485="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1530,
          "referenceAllele": "C",
          "start": 1529
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012731",
      "geneNCBI_id": 7454,
      "geneSymbol": "WAS",
      "hgvs": [
        "ENST00000376701.4:c.1455C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365891.4:p.Asp485="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271277"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825160325",
      "coordinates": [
        {
          "allele": "T",
          "end": 1512,
          "referenceAllele": "C",
          "start": 1511
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012731",
      "geneNCBI_id": 7454,
      "geneSymbol": "WAS",
      "hgvs": [
        "NM_000377.2:c.1455C>T",
        "LRG_125t1:c.1455C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000368.1:p.Asp485="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006439"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1363,
          "referenceAllele": "C",
          "start": 1362
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012731",
      "geneNCBI_id": 7454,
      "geneSymbol": "WAS",
      "hgvs": [
        "XM_011543977.1:c.1299C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542279.1:p.Asp433="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110890"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1361,
          "referenceAllele": "C",
          "start": 1360
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012731",
      "geneNCBI_id": 7454,
      "geneSymbol": "WAS",
      "hgvs": [
        "XM_011543977.2:c.1299C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542279.1:p.Asp433="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555452"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825160325",
      "coordinates": [
        {
          "allele": "T",
          "end": 1510,
          "referenceAllele": "C",
          "start": 1509
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012731",
      "geneNCBI_id": 7454,
      "geneSymbol": "WAS",
      "hgvs": [
        "NM_000377.3:c.1455C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000368.1:p.Asp485="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674817",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000376701.5:c.1455C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000377.3:c.1455C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000365891.4:p.Asp485="
          },
          "RefSeq": {
            "hgvs": "NP_000368.1:p.Asp485="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}