{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA412872391",
  "communityStandardTitle": [
    "NM_000377.3(WAS):c.886G>A (p.Asp296Asn)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3338862[alleleid]",
        "alleleId": 3338862,
        "preferredName": "NM_000377.3(WAS):c.886G>A (p.Asp296Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3189514",
        "RCV": [
          "RCV004477872"
        ],
        "variationId": 3189514
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.48546797G>A?assembly=hg19",
        "id": "chrX:g.48546797G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.48688408G>A?assembly=hg38",
        "id": "chrX:g.48688408G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1186676831",
        "rs": 1186676831
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-48546797-G-A?dataset=gnomad_r2_1",
        "id": "X-48546797-G-A",
        "variant": "X:48546797 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-48688408-G-A?dataset=gnomad_r3",
        "id": "X-48688408-G-A",
        "variant": "X:48688408 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-48688408-G-A?dataset=gnomad_r4",
        "id": "X-48688408-G-A",
        "variant": "X:48688408 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 48688408,
          "referenceAllele": "G",
          "start": 48688407
        }
      ],
      "hgvs": [
        "NC_000023.11:g.48688408G>A",
        "CM000685.2:g.48688408G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 48546797,
          "referenceAllele": "G",
          "start": 48546796
        }
      ],
      "hgvs": [
        "NC_000023.10:g.48546797G>A",
        "CM000685.1:g.48546797G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 48431741,
          "referenceAllele": "G",
          "start": 48431740
        }
      ],
      "hgvs": [
        "NC_000023.9:g.48431741G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9612,
          "referenceAllele": "G",
          "start": 9611
        }
      ],
      "hgvs": [
        "NG_007877.1:g.9612G>A",
        "LRG_125:g.9612G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000685"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 130,
          "referenceAllele": "G",
          "start": 129
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012731",
      "geneNCBI_id": 7454,
      "geneSymbol": "WAS",
      "hgvs": [
        "ENST00000474174.2:n.130G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS905213"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1065,
          "referenceAllele": "G",
          "start": 1064
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012731",
      "geneNCBI_id": 7454,
      "geneSymbol": "WAS",
      "hgvs": [
        "ENST00000698625.1:c.886G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513844.1:p.Asp296Asn",
        "hgvsWellDefined": "ENSP00000513844.1:p.Asp296Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909581"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 912,
          "referenceAllele": "G",
          "start": 911
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012731",
      "geneNCBI_id": 7454,
      "geneSymbol": "WAS",
      "hgvs": [
        "ENST00000698626.1:c.886G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513845.1:p.Asp296Asn",
        "hgvsWellDefined": "ENSP00000513845.1:p.Asp296Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909582"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 935,
          "referenceAllele": "G",
          "start": 934
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012731",
      "geneNCBI_id": 7454,
      "geneSymbol": "WAS",
      "hgvs": [
        "ENST00000698635.1:c.886G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513850.1:p.Asp296Asn",
        "hgvsWellDefined": "ENSP00000513850.1:p.Asp296Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909590"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 941,
          "referenceAllele": "G",
          "start": 940
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012731",
      "geneNCBI_id": 7454,
      "geneSymbol": "WAS",
      "hgvs": [
        "ENST00000376701.5:c.886G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365891.4:p.Asp296Asn",
        "hgvsWellDefined": "ENSP00000365891.4:p.Asp296Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751803",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000376701.5:c.886G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000377.3:c.886G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000365891.4:p.Asp296Asn"
          },
          "RefSeq": {
            "hgvs": "NP_000368.1:p.Asp296Asn"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 961,
          "referenceAllele": "G",
          "start": 960
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012731",
      "geneNCBI_id": 7454,
      "geneSymbol": "WAS",
      "hgvs": [
        "ENST00000376701.4:c.886G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365891.4:p.Asp296Asn",
        "hgvsWellDefined": "ENSP00000365891.4:p.Asp296Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271277"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 130,
          "referenceAllele": "G",
          "start": 129
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012731",
      "geneNCBI_id": 7454,
      "geneSymbol": "WAS",
      "hgvs": [
        "ENST00000474174.1:n.130G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS315738"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825160222",
      "coordinates": [
        {
          "allele": "A",
          "end": 943,
          "referenceAllele": "G",
          "start": 942
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012731",
      "geneNCBI_id": 7454,
      "geneSymbol": "WAS",
      "hgvs": [
        "NM_000377.2:c.886G>A",
        "LRG_125t1:c.886G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000368.1:p.Asp296Asn",
        "hgvsWellDefined": "NP_000368.1:p.Asp296Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006439"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 950,
          "referenceAllele": "G",
          "start": 949
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012731",
      "geneNCBI_id": 7454,
      "geneSymbol": "WAS",
      "hgvs": [
        "XM_011543977.1:c.886G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542279.1:p.Asp296Asn",
        "hgvsWellDefined": "XP_011542279.1:p.Asp296Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110890"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 948,
          "referenceAllele": "G",
          "start": 947
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012731",
      "geneNCBI_id": 7454,
      "geneSymbol": "WAS",
      "hgvs": [
        "XM_011543977.2:c.886G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542279.1:p.Asp296Asn",
        "hgvsWellDefined": "XP_011542279.1:p.Asp296Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555452"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 987,
          "referenceAllele": "G",
          "start": 986
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012731",
      "geneNCBI_id": 7454,
      "geneSymbol": "WAS",
      "hgvs": [
        "XM_017029786.1:c.886G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885275.1:p.Asp296Asn",
        "hgvsWellDefined": "XP_016885275.1:p.Asp296Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579280"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825160222",
      "coordinates": [
        {
          "allele": "A",
          "end": 941,
          "referenceAllele": "G",
          "start": 940
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012731",
      "geneNCBI_id": 7454,
      "geneSymbol": "WAS",
      "hgvs": [
        "NM_000377.3:c.886G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000368.1:p.Asp296Asn",
        "hgvsWellDefined": "NP_000368.1:p.Asp296Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674817",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000376701.5:c.886G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000377.3:c.886G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000365891.4:p.Asp296Asn"
          },
          "RefSeq": {
            "hgvs": "NP_000368.1:p.Asp296Asn"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}