{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16621420",
  "communityStandardTitle": [
    "NM_000377.3(WAS):c.1453G>A (p.Asp485Asn)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=411388[alleleid]",
        "alleleId": 411388,
        "preferredName": "NM_000377.3(WAS):c.1453G>A (p.Asp485Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/418541",
        "RCV": [
          "RCV000482823",
          "RCV000780796",
          "RCV001038563"
        ],
        "variationId": 418541
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.48547823G>A?assembly=hg19",
        "id": "chrX:g.48547823G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.48689434G>A?assembly=hg38",
        "id": "chrX:g.48689434G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1064793293",
        "rs": 1064793293
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 48689434,
          "referenceAllele": "G",
          "start": 48689433
        }
      ],
      "hgvs": [
        "NC_000023.11:g.48689434G>A",
        "CM000685.2:g.48689434G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 48547823,
          "referenceAllele": "G",
          "start": 48547822
        }
      ],
      "hgvs": [
        "NC_000023.10:g.48547823G>A",
        "CM000685.1:g.48547823G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 48432767,
          "referenceAllele": "G",
          "start": 48432766
        }
      ],
      "hgvs": [
        "NC_000023.9:g.48432767G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10638,
          "referenceAllele": "G",
          "start": 10637
        }
      ],
      "hgvs": [
        "NG_007877.1:g.10638G>A",
        "LRG_125:g.10638G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000685"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1632,
          "referenceAllele": "G",
          "start": 1631
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012731",
      "geneNCBI_id": 7454,
      "geneSymbol": "WAS",
      "hgvs": [
        "ENST00000698625.1:c.1453G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513844.1:p.Asp485Asn",
        "hgvsWellDefined": "ENSP00000513844.1:p.Asp485Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909581"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1479,
          "referenceAllele": "G",
          "start": 1478
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012731",
      "geneNCBI_id": 7454,
      "geneSymbol": "WAS",
      "hgvs": [
        "ENST00000698626.1:c.1453G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513845.1:p.Gly485Arg",
        "hgvsWellDefined": "ENSP00000513845.1:p.Gly485Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909582"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1502,
          "referenceAllele": "G",
          "start": 1501
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012731",
      "geneNCBI_id": 7454,
      "geneSymbol": "WAS",
      "hgvs": [
        "ENST00000698635.1:c.1453G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513850.1:p.Gly485Arg",
        "hgvsWellDefined": "ENSP00000513850.1:p.Gly485Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909590"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1508,
          "referenceAllele": "G",
          "start": 1507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012731",
      "geneNCBI_id": 7454,
      "geneSymbol": "WAS",
      "hgvs": [
        "ENST00000376701.5:c.1453G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365891.4:p.Asp485Asn",
        "hgvsWellDefined": "ENSP00000365891.4:p.Asp485Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751803",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000376701.5:c.1453G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000377.3:c.1453G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000365891.4:p.Asp485Asn"
          },
          "RefSeq": {
            "hgvs": "NP_000368.1:p.Asp485Asn"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1528,
          "referenceAllele": "G",
          "start": 1527
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012731",
      "geneNCBI_id": 7454,
      "geneSymbol": "WAS",
      "hgvs": [
        "ENST00000376701.4:c.1453G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365891.4:p.Asp485Asn",
        "hgvsWellDefined": "ENSP00000365891.4:p.Asp485Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271277"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 162,
          "referenceAllele": "G",
          "start": 161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012731",
      "geneNCBI_id": 7454,
      "geneSymbol": "WAS",
      "hgvs": [
        "ENST00000470107.1:n.162G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS312628"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645506032",
      "coordinates": [
        {
          "allele": "A",
          "end": 1510,
          "referenceAllele": "G",
          "start": 1509
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012731",
      "geneNCBI_id": 7454,
      "geneSymbol": "WAS",
      "hgvs": [
        "NM_000377.2:c.1453G>A",
        "LRG_125t1:c.1453G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000368.1:p.Asp485Asn",
        "hgvsWellDefined": "NP_000368.1:p.Asp485Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006439"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1361,
          "referenceAllele": "G",
          "start": 1360
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012731",
      "geneNCBI_id": 7454,
      "geneSymbol": "WAS",
      "hgvs": [
        "XM_011543977.1:c.1297G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542279.1:p.Asp433Asn",
        "hgvsWellDefined": "XP_011542279.1:p.Asp433Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110890"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1359,
          "referenceAllele": "G",
          "start": 1358
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012731",
      "geneNCBI_id": 7454,
      "geneSymbol": "WAS",
      "hgvs": [
        "XM_011543977.2:c.1297G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542279.1:p.Asp433Asn",
        "hgvsWellDefined": "XP_011542279.1:p.Asp433Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555452"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1554,
          "referenceAllele": "G",
          "start": 1553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012731",
      "geneNCBI_id": 7454,
      "geneSymbol": "WAS",
      "hgvs": [
        "XM_017029786.1:c.1453G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885275.1:p.Gly485Arg",
        "hgvsWellDefined": "XP_016885275.1:p.Gly485Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579280"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645506032",
      "coordinates": [
        {
          "allele": "A",
          "end": 1508,
          "referenceAllele": "G",
          "start": 1507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012731",
      "geneNCBI_id": 7454,
      "geneSymbol": "WAS",
      "hgvs": [
        "NM_000377.3:c.1453G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000368.1:p.Asp485Asn",
        "hgvsWellDefined": "NP_000368.1:p.Asp485Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674817",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000376701.5:c.1453G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000377.3:c.1453G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000365891.4:p.Asp485Asn"
          },
          "RefSeq": {
            "hgvs": "NP_000368.1:p.Asp485Asn"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}