{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1817239135",
  "communityStandardTitle": [
    "NM_014846.4(WASHC5):c.2888A= (p.Asn963=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/748167994",
        "rs": 748167994
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 125039861,
          "referenceAllele": "T",
          "start": 125039860
        }
      ],
      "hgvs": [
        "NC_000008.11:g.125039861T=",
        "CM000670.2:g.125039861T="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 126052103,
          "referenceAllele": "T",
          "start": 126052102
        }
      ],
      "hgvs": [
        "NC_000008.10:g.126052103T=",
        "CM000670.1:g.126052103T="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 126121285,
          "referenceAllele": "T",
          "start": 126121284
        }
      ],
      "hgvs": [
        "NC_000008.9:g.126121285T="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 56959,
          "referenceAllele": "A",
          "start": 56958
        }
      ],
      "hgvs": [
        "NG_012636.1:g.56959A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002491"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3190,
          "referenceAllele": "A",
          "start": 3189
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028984",
      "geneNCBI_id": 9897,
      "geneSymbol": "WASHC5",
      "hgvs": [
        "ENST00000318410.12:c.2888A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000318016.7:p.Asn963="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746216",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000318410.12:c.2888A="
          },
          "RefSeq": {
            "hgvs": "NM_014846.4:c.2888A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000318016.7:p.Asn963="
          },
          "RefSeq": {
            "hgvs": "NP_055661.3:p.Asn963="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3238,
          "referenceAllele": "A",
          "start": 3237
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028984",
      "geneNCBI_id": 9897,
      "geneSymbol": "WASHC5",
      "hgvs": [
        "ENST00000318410.11:c.2888A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000318016.7:p.Asn963="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257531"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2725,
          "referenceAllele": "A",
          "start": 2724
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028984",
      "geneNCBI_id": 9897,
      "geneSymbol": "WASHC5",
      "hgvs": [
        "ENST00000517845.5:c.2444A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000429676.1:p.Asn815="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS345429"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3074817932",
      "coordinates": [
        {
          "allele": "A",
          "end": 3217,
          "referenceAllele": "A",
          "start": 3216
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028984",
      "geneNCBI_id": 9897,
      "geneSymbol": "WASHC5",
      "hgvs": [
        "NM_014846.3:c.2888A="
      ],
      "proteinEffect": {
        "hgvs": "NP_055661.3:p.Asn963="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033519"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2907,
          "referenceAllele": "A",
          "start": 2906
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028984",
      "geneNCBI_id": 9897,
      "geneSymbol": "WASHC5",
      "hgvs": [
        "XM_005251120.2:c.2444A="
      ],
      "proteinEffect": {
        "hgvs": "XP_005251177.1:p.Asn815="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059429"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3194,
          "referenceAllele": "A",
          "start": 3193
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028984",
      "geneNCBI_id": 9897,
      "geneSymbol": "WASHC5",
      "hgvs": [
        "XM_011517409.1:c.2888A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011515711.1:p.Asn963="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084607"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3194,
          "referenceAllele": "A",
          "start": 3193
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028984",
      "geneNCBI_id": 9897,
      "geneSymbol": "WASHC5",
      "hgvs": [
        "XM_011517410.1:c.2888A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011515712.1:p.Asn963="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084608"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2907,
          "referenceAllele": "A",
          "start": 2906
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028984",
      "geneNCBI_id": 9897,
      "geneSymbol": "WASHC5",
      "hgvs": [
        "NM_001330609.1:c.2444A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001317538.1:p.Asn815="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516952"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3423,
          "referenceAllele": "A",
          "start": 3422
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028984",
      "geneNCBI_id": 9897,
      "geneSymbol": "WASHC5",
      "hgvs": [
        "XM_017014113.2:c.2888A="
      ],
      "proteinEffect": {
        "hgvs": "XP_016869602.1:p.Asn963="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567157"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3074817932",
      "coordinates": [
        {
          "allele": "A",
          "end": 3190,
          "referenceAllele": "A",
          "start": 3189
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028984",
      "geneNCBI_id": 9897,
      "geneSymbol": "WASHC5",
      "hgvs": [
        "NM_014846.4:c.2888A="
      ],
      "proteinEffect": {
        "hgvs": "NP_055661.3:p.Asn963="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668522",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000318410.12:c.2888A="
          },
          "RefSeq": {
            "hgvs": "NM_014846.4:c.2888A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000318016.7:p.Asn963="
          },
          "RefSeq": {
            "hgvs": "NP_055661.3:p.Asn963="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2880,
          "referenceAllele": "A",
          "start": 2879
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028984",
      "geneNCBI_id": 9897,
      "geneSymbol": "WASHC5",
      "hgvs": [
        "NM_001330609.2:c.2444A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001317538.1:p.Asn815="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718724"
    }
  ],
  "type": "nucleotide"
}