{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA5337213",
  "communityStandardTitle": [
    "NM_019892.6(INPP5E):c.21T>C (p.Asn7=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=307654[alleleid]",
        "alleleId": 307654,
        "preferredName": "NM_019892.6(INPP5E):c.21T>C (p.Asn7=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/365894",
        "RCV": [
          "RCV000282860",
          "RCV001095346",
          "RCV001707685",
          "RCV004544714"
        ],
        "variationId": 365894
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/9-139333851-A-G",
        "id": "9-139333851-A-G",
        "variant": "9:139333851 A / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.139333851A>G?assembly=hg19",
        "id": "chr9:g.139333851A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.136439399A>G?assembly=hg38",
        "id": "chr9:g.136439399A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/571588033",
        "rs": 571588033
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-139333851-A-G?dataset=gnomad_r2_1",
        "id": "9-139333851-A-G",
        "variant": "9:139333851 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-136439399-A-G?dataset=gnomad_r3",
        "id": "9-136439399-A-G",
        "variant": "9:136439399 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-136439399-A-G?dataset=gnomad_r4",
        "id": "9-136439399-A-G",
        "variant": "9:136439399 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 136439399,
          "referenceAllele": "A",
          "start": 136439398
        }
      ],
      "hgvs": [
        "NC_000009.12:g.136439399A>G",
        "CM000671.2:g.136439399A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 139333851,
          "referenceAllele": "A",
          "start": 139333850
        }
      ],
      "hgvs": [
        "NC_000009.11:g.139333851A>G",
        "CM000671.1:g.139333851A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 138453672,
          "referenceAllele": "A",
          "start": 138453671
        }
      ],
      "hgvs": [
        "NC_000009.10:g.138453672A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5406,
          "referenceAllele": "T",
          "start": 5405
        }
      ],
      "hgvs": [
        "NG_016126.1:g.5406T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002966"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 447,
          "referenceAllele": "T",
          "start": 446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021474",
      "geneNCBI_id": 56623,
      "geneSymbol": "INPP5E",
      "hgvs": [
        "ENST00000371712.4:c.21T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360777.3:p.Asn7="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750845",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000371712.4:c.21T>C"
          },
          "RefSeq": {
            "hgvs": "NM_019892.6:c.21T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000360777.3:p.Asn7="
          },
          "RefSeq": {
            "hgvs": "NP_063945.2:p.Asn7="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 425,
          "referenceAllele": "T",
          "start": 424
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021474",
      "geneNCBI_id": 56623,
      "geneSymbol": "INPP5E",
      "hgvs": [
        "ENST00000635815.1:n.425T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS762658"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 447,
          "referenceAllele": "T",
          "start": 446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021474",
      "geneNCBI_id": 56623,
      "geneSymbol": "INPP5E",
      "hgvs": [
        "ENST00000676019.1:c.21T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501984.1:p.Asn7="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775760"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 424,
          "referenceAllele": "T",
          "start": 423
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021474",
      "geneNCBI_id": 56623,
      "geneSymbol": "INPP5E",
      "hgvs": [
        "ENST00000371712.3:c.21T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360777.3:p.Asn7="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268711"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829907526",
      "coordinates": [
        {
          "allele": "C",
          "end": 406,
          "referenceAllele": "T",
          "start": 405
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021474",
      "geneNCBI_id": 56623,
      "geneSymbol": "INPP5E",
      "hgvs": [
        "NM_019892.4:c.21T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_063945.2:p.Asn7="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036167"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 461,
          "referenceAllele": "T",
          "start": 460
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021474",
      "geneNCBI_id": 56623,
      "geneSymbol": "INPP5E",
      "hgvs": [
        "XM_005266094.2:c.21T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266151.1:p.Asn7="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064913"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 461,
          "referenceAllele": "T",
          "start": 460
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021474",
      "geneNCBI_id": 56623,
      "geneSymbol": "INPP5E",
      "hgvs": [
        "XR_929828.1:n.461T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS125957"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826992223",
      "coordinates": [
        {
          "allele": "C",
          "end": 424,
          "referenceAllele": "T",
          "start": 423
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021474",
      "geneNCBI_id": 56623,
      "geneSymbol": "INPP5E",
      "hgvs": [
        "NM_001318502.1:c.21T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305431.1:p.Asn7="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS512916"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829907526",
      "coordinates": [
        {
          "allele": "C",
          "end": 424,
          "referenceAllele": "T",
          "start": 423
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021474",
      "geneNCBI_id": 56623,
      "geneSymbol": "INPP5E",
      "hgvs": [
        "NM_019892.5:c.21T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_063945.2:p.Asn7="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525948"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 463,
          "referenceAllele": "T",
          "start": 462
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021474",
      "geneNCBI_id": 56623,
      "geneSymbol": "INPP5E",
      "hgvs": [
        "XM_017014926.1:c.21T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016870415.1:p.Asn7="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567771"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 463,
          "referenceAllele": "T",
          "start": 462
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021474",
      "geneNCBI_id": 56623,
      "geneSymbol": "INPP5E",
      "hgvs": [
        "XR_929828.2:n.463T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS609305"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829907526",
      "coordinates": [
        {
          "allele": "C",
          "end": 447,
          "referenceAllele": "T",
          "start": 446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021474",
      "geneNCBI_id": 56623,
      "geneSymbol": "INPP5E",
      "hgvs": [
        "NM_019892.6:c.21T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_063945.2:p.Asn7="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS669878",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000371712.4:c.21T>C"
          },
          "RefSeq": {
            "hgvs": "NM_019892.6:c.21T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000360777.3:p.Asn7="
          },
          "RefSeq": {
            "hgvs": "NP_063945.2:p.Asn7="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826992223",
      "coordinates": [
        {
          "allele": "C",
          "end": 447,
          "referenceAllele": "T",
          "start": 446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021474",
      "geneNCBI_id": 56623,
      "geneSymbol": "INPP5E",
      "hgvs": [
        "NM_001318502.2:c.21T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305431.1:p.Asn7="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684545"
    }
  ],
  "type": "nucleotide"
}