{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA243149",
  "communityStandardTitle": [
    "NM_000377.3(WAS):c.285G>A (p.Leu95=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=193420[alleleid]",
        "alleleId": 193420,
        "preferredName": "NM_000377.3(WAS):c.285G>A (p.Leu95=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/196259",
        "RCV": [
          "RCV000177052",
          "RCV001088097",
          "RCV001818426"
        ],
        "variationId": 196259
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/X-48543947-G-A",
        "id": "X-48543947-G-A",
        "variant": "X:48543947 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.48543947G>A?assembly=hg19",
        "id": "chrX:g.48543947G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.48685558G>A?assembly=hg38",
        "id": "chrX:g.48685558G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/781799471",
        "rs": 781799471
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-48543947-G-A?dataset=gnomad_r2_1",
        "id": "X-48543947-G-A",
        "variant": "X:48543947 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-48685558-G-A?dataset=gnomad_r3",
        "id": "X-48685558-G-A",
        "variant": "X:48685558 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-48685558-G-A?dataset=gnomad_r4",
        "id": "X-48685558-G-A",
        "variant": "X:48685558 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 48685558,
          "referenceAllele": "G",
          "start": 48685557
        }
      ],
      "hgvs": [
        "NC_000023.11:g.48685558G>A",
        "CM000685.2:g.48685558G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 48543947,
          "referenceAllele": "G",
          "start": 48543946
        }
      ],
      "hgvs": [
        "NC_000023.10:g.48543947G>A",
        "CM000685.1:g.48543947G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 48428891,
          "referenceAllele": "G",
          "start": 48428890
        }
      ],
      "hgvs": [
        "NC_000023.9:g.48428891G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6762,
          "referenceAllele": "G",
          "start": 6761
        }
      ],
      "hgvs": [
        "NG_007877.1:g.6762G>A",
        "LRG_125:g.6762G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000685"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 318,
          "referenceAllele": "G",
          "start": 317
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012731",
      "geneNCBI_id": 7454,
      "geneSymbol": "WAS",
      "hgvs": [
        "ENST00000483750.6:n.318G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS905309"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 464,
          "referenceAllele": "G",
          "start": 463
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012731",
      "geneNCBI_id": 7454,
      "geneSymbol": "WAS",
      "hgvs": [
        "ENST00000698625.1:c.285G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513844.1:p.Leu95="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909581"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 311,
          "referenceAllele": "G",
          "start": 310
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012731",
      "geneNCBI_id": 7454,
      "geneSymbol": "WAS",
      "hgvs": [
        "ENST00000698626.1:c.285G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513845.1:p.Leu95="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909582"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 334,
          "referenceAllele": "G",
          "start": 333
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012731",
      "geneNCBI_id": 7454,
      "geneSymbol": "WAS",
      "hgvs": [
        "ENST00000698635.1:c.285G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513850.1:p.Leu95="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909590"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 340,
          "referenceAllele": "G",
          "start": 339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012731",
      "geneNCBI_id": 7454,
      "geneSymbol": "WAS",
      "hgvs": [
        "ENST00000376701.5:c.285G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365891.4:p.Leu95="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751803",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000376701.5:c.285G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000377.3:c.285G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000365891.4:p.Leu95="
          },
          "RefSeq": {
            "hgvs": "NP_000368.1:p.Leu95="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 360,
          "referenceAllele": "G",
          "start": 359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012731",
      "geneNCBI_id": 7454,
      "geneSymbol": "WAS",
      "hgvs": [
        "ENST00000376701.4:c.285G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365891.4:p.Leu95="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271277"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 568,
          "referenceAllele": "G",
          "start": 567
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012731",
      "geneNCBI_id": 7454,
      "geneSymbol": "WAS",
      "hgvs": [
        "ENST00000450772.5:c.285G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000410537.1:p.Leu95="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS300865"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 320,
          "referenceAllele": "G",
          "start": 319
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012731",
      "geneNCBI_id": 7454,
      "geneSymbol": "WAS",
      "hgvs": [
        "ENST00000465982.5:n.320G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS309465"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 311,
          "referenceAllele": "G",
          "start": 310
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012731",
      "geneNCBI_id": 7454,
      "geneSymbol": "WAS",
      "hgvs": [
        "ENST00000483750.5:n.311G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS323153"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825160139",
      "coordinates": [
        {
          "allele": "A",
          "end": 342,
          "referenceAllele": "G",
          "start": 341
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012731",
      "geneNCBI_id": 7454,
      "geneSymbol": "WAS",
      "hgvs": [
        "NM_000377.2:c.285G>A",
        "LRG_125t1:c.285G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000368.1:p.Leu95="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006439"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 349,
          "referenceAllele": "G",
          "start": 348
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012731",
      "geneNCBI_id": 7454,
      "geneSymbol": "WAS",
      "hgvs": [
        "XM_011543977.1:c.285G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542279.1:p.Leu95="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110890"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 347,
          "referenceAllele": "G",
          "start": 346
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012731",
      "geneNCBI_id": 7454,
      "geneSymbol": "WAS",
      "hgvs": [
        "XM_011543977.2:c.285G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542279.1:p.Leu95="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555452"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 386,
          "referenceAllele": "G",
          "start": 385
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012731",
      "geneNCBI_id": 7454,
      "geneSymbol": "WAS",
      "hgvs": [
        "XM_017029786.1:c.285G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885275.1:p.Leu95="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579280"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825160139",
      "coordinates": [
        {
          "allele": "A",
          "end": 340,
          "referenceAllele": "G",
          "start": 339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012731",
      "geneNCBI_id": 7454,
      "geneSymbol": "WAS",
      "hgvs": [
        "NM_000377.3:c.285G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000368.1:p.Leu95="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674817",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000376701.5:c.285G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000377.3:c.285G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000365891.4:p.Leu95="
          },
          "RefSeq": {
            "hgvs": "NP_000368.1:p.Leu95="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}