{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10403959",
  "communityStandardTitle": [
    "NM_000377.3(WAS):c.593C>T (p.Ala198Val)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=6044355",
        "active": true,
        "id": "COSM6044355"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1589531[alleleid]",
        "alleleId": 1589531,
        "preferredName": "NM_000377.3(WAS):c.593C>T (p.Ala198Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1593460",
        "RCV": [
          "RCV002122483"
        ],
        "variationId": 1593460
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/X-48545203-C-T",
        "id": "X-48545203-C-T",
        "variant": "X:48545203 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.48545203C>T?assembly=hg19",
        "id": "chrX:g.48545203C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.48686814C>T?assembly=hg38",
        "id": "chrX:g.48686814C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/200261212",
        "rs": 200261212
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-48545203-C-T?dataset=gnomad_r2_1",
        "id": "X-48545203-C-T",
        "variant": "X:48545203 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-48686814-C-T?dataset=gnomad_r3",
        "id": "X-48686814-C-T",
        "variant": "X:48686814 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-48686814-C-T?dataset=gnomad_r4",
        "id": "X-48686814-C-T",
        "variant": "X:48686814 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 48686814,
          "referenceAllele": "C",
          "start": 48686813
        }
      ],
      "hgvs": [
        "NC_000023.11:g.48686814C>T",
        "CM000685.2:g.48686814C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 48545203,
          "referenceAllele": "C",
          "start": 48545202
        }
      ],
      "hgvs": [
        "NC_000023.10:g.48545203C>T",
        "CM000685.1:g.48545203C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 48430147,
          "referenceAllele": "C",
          "start": 48430146
        }
      ],
      "hgvs": [
        "NC_000023.9:g.48430147C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8018,
          "referenceAllele": "C",
          "start": 8017
        }
      ],
      "hgvs": [
        "NG_007877.1:g.8018C>T",
        "LRG_125:g.8018C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000685"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 626,
          "referenceAllele": "C",
          "start": 625
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012731",
      "geneNCBI_id": 7454,
      "geneSymbol": "WAS",
      "hgvs": [
        "ENST00000483750.6:n.626C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS905309"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 171,
          "endIntronDirection": "+",
          "endIntronOffset": 680,
          "referenceAllele": "C",
          "start": 171,
          "startIntronDirection": "+",
          "startIntronOffset": 679
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012731",
      "geneNCBI_id": 7454,
      "geneSymbol": "WAS",
      "hgvs": [
        "ENST00000490627.2:n.171+680C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS905376"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 772,
          "referenceAllele": "C",
          "start": 771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012731",
      "geneNCBI_id": 7454,
      "geneSymbol": "WAS",
      "hgvs": [
        "ENST00000698625.1:c.593C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513844.1:p.Ala198Val",
        "hgvsWellDefined": "ENSP00000513844.1:p.Ala198Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909581"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 619,
          "referenceAllele": "C",
          "start": 618
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012731",
      "geneNCBI_id": 7454,
      "geneSymbol": "WAS",
      "hgvs": [
        "ENST00000698626.1:c.593C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513845.1:p.Ala198Val",
        "hgvsWellDefined": "ENSP00000513845.1:p.Ala198Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909582"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 642,
          "referenceAllele": "C",
          "start": 641
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012731",
      "geneNCBI_id": 7454,
      "geneSymbol": "WAS",
      "hgvs": [
        "ENST00000698635.1:c.593C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513850.1:p.Ala198Val",
        "hgvsWellDefined": "ENSP00000513850.1:p.Ala198Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909590"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 648,
          "referenceAllele": "C",
          "start": 647
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012731",
      "geneNCBI_id": 7454,
      "geneSymbol": "WAS",
      "hgvs": [
        "ENST00000376701.5:c.593C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365891.4:p.Ala198Val",
        "hgvsWellDefined": "ENSP00000365891.4:p.Ala198Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751803",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000376701.5:c.593C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000377.3:c.593C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000365891.4:p.Ala198Val"
          },
          "RefSeq": {
            "hgvs": "NP_000368.1:p.Ala198Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 668,
          "referenceAllele": "C",
          "start": 667
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012731",
      "geneNCBI_id": 7454,
      "geneSymbol": "WAS",
      "hgvs": [
        "ENST00000376701.4:c.593C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365891.4:p.Ala198Val",
        "hgvsWellDefined": "ENSP00000365891.4:p.Ala198Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271277"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 876,
          "referenceAllele": "C",
          "start": 875
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012731",
      "geneNCBI_id": 7454,
      "geneSymbol": "WAS",
      "hgvs": [
        "ENST00000450772.5:c.593C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000410537.1:p.Ala198Val",
        "hgvsWellDefined": "ENSP00000410537.1:p.Ala198Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS300865"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 498,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "C",
          "start": 498,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012731",
      "geneNCBI_id": 7454,
      "geneSymbol": "WAS",
      "hgvs": [
        "ENST00000465982.5:n.499-6C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS309465"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 619,
          "referenceAllele": "C",
          "start": 618
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012731",
      "geneNCBI_id": 7454,
      "geneSymbol": "WAS",
      "hgvs": [
        "ENST00000483750.5:n.619C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS323153"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 154,
          "endIntronDirection": "+",
          "endIntronOffset": 680,
          "referenceAllele": "C",
          "start": 154,
          "startIntronDirection": "+",
          "startIntronOffset": 679
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012731",
      "geneNCBI_id": 7454,
      "geneSymbol": "WAS",
      "hgvs": [
        "ENST00000490627.1:n.154+680C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS328398"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573169079",
      "coordinates": [
        {
          "allele": "T",
          "end": 650,
          "referenceAllele": "C",
          "start": 649
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012731",
      "geneNCBI_id": 7454,
      "geneSymbol": "WAS",
      "hgvs": [
        "NM_000377.2:c.593C>T",
        "LRG_125t1:c.593C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000368.1:p.Ala198Val",
        "hgvsWellDefined": "NP_000368.1:p.Ala198Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006439"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 657,
          "referenceAllele": "C",
          "start": 656
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012731",
      "geneNCBI_id": 7454,
      "geneSymbol": "WAS",
      "hgvs": [
        "XM_011543977.1:c.593C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542279.1:p.Ala198Val",
        "hgvsWellDefined": "XP_011542279.1:p.Ala198Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110890"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 655,
          "referenceAllele": "C",
          "start": 654
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012731",
      "geneNCBI_id": 7454,
      "geneSymbol": "WAS",
      "hgvs": [
        "XM_011543977.2:c.593C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542279.1:p.Ala198Val",
        "hgvsWellDefined": "XP_011542279.1:p.Ala198Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555452"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 694,
          "referenceAllele": "C",
          "start": 693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012731",
      "geneNCBI_id": 7454,
      "geneSymbol": "WAS",
      "hgvs": [
        "XM_017029786.1:c.593C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885275.1:p.Ala198Val",
        "hgvsWellDefined": "XP_016885275.1:p.Ala198Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579280"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573169079",
      "coordinates": [
        {
          "allele": "T",
          "end": 648,
          "referenceAllele": "C",
          "start": 647
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012731",
      "geneNCBI_id": 7454,
      "geneSymbol": "WAS",
      "hgvs": [
        "NM_000377.3:c.593C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000368.1:p.Ala198Val",
        "hgvsWellDefined": "NP_000368.1:p.Ala198Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674817",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000376701.5:c.593C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000377.3:c.593C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000365891.4:p.Ala198Val"
          },
          "RefSeq": {
            "hgvs": "NP_000368.1:p.Ala198Val"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}