{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA279423",
  "communityStandardTitle": [
    "NM_019892.6(INPP5E):c.1684A>G (p.Ser562Gly)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=214298[alleleid]",
        "alleleId": 214298,
        "preferredName": "NM_019892.6(INPP5E):c.1684A>G (p.Ser562Gly)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/217654",
        "RCV": [
          "RCV000201622",
          "RCV001775664"
        ],
        "variationId": 217654
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.139324847T>C?assembly=hg19",
        "id": "chr9:g.139324847T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.136430395T>C?assembly=hg38",
        "id": "chr9:g.136430395T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/863225197",
        "rs": 863225197
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-136430395-T-C?dataset=gnomad_r4",
        "id": "9-136430395-T-C",
        "variant": "9:136430395 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "C",
          "end": 136430395,
          "referenceAllele": "T",
          "start": 136430394
        }
      ],
      "hgvs": [
        "NC_000009.12:g.136430395T>C",
        "CM000671.2:g.136430395T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "C",
          "end": 139324847,
          "referenceAllele": "T",
          "start": 139324846
        }
      ],
      "hgvs": [
        "NC_000009.11:g.139324847T>C",
        "CM000671.1:g.139324847T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "C",
          "end": 138444668,
          "referenceAllele": "T",
          "start": 138444667
        }
      ],
      "hgvs": [
        "NC_000009.10:g.138444668T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 14410,
          "referenceAllele": "A",
          "start": 14409
        }
      ],
      "hgvs": [
        "NG_016126.1:g.14410A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002966"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2110,
          "referenceAllele": "A",
          "start": 2109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021474",
      "geneNCBI_id": 56623,
      "geneSymbol": "INPP5E",
      "hgvs": [
        "ENST00000371712.4:c.1684A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360777.3:p.Ser562Gly",
        "hgvsWellDefined": "ENSP00000360777.3:p.Ser562Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750845",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000371712.4:c.1684A>G"
          },
          "RefSeq": {
            "hgvs": "NM_019892.6:c.1684A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000360777.3:p.Ser562Gly"
          },
          "RefSeq": {
            "hgvs": "NP_063945.2:p.Ser562Gly"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 201,
          "referenceAllele": "A",
          "start": 200
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021474",
      "geneNCBI_id": 56623,
      "geneSymbol": "INPP5E",
      "hgvs": [
        "ENST00000674693.1:n.201A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS774622"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2008,
          "referenceAllele": "A",
          "start": 2007
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021474",
      "geneNCBI_id": 56623,
      "geneSymbol": "INPP5E",
      "hgvs": [
        "ENST00000676019.1:c.1582A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501984.1:p.Ser528Gly",
        "hgvsWellDefined": "ENSP00000501984.1:p.Ser528Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775760"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2087,
          "referenceAllele": "A",
          "start": 2086
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021474",
      "geneNCBI_id": 56623,
      "geneSymbol": "INPP5E",
      "hgvs": [
        "ENST00000371712.3:c.1684A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360777.3:p.Ser562Gly",
        "hgvsWellDefined": "ENSP00000360777.3:p.Ser562Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268711"
    },
    {
      "@id": "http://reg.genome.network/allele/PA279424",
      "coordinates": [
        {
          "allele": "G",
          "end": 2069,
          "referenceAllele": "A",
          "start": 2068
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021474",
      "geneNCBI_id": 56623,
      "geneSymbol": "INPP5E",
      "hgvs": [
        "NM_019892.4:c.1684A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_063945.2:p.Ser562Gly",
        "hgvsWellDefined": "NP_063945.2:p.Ser562Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036167"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2121,
          "referenceAllele": "A",
          "start": 2120
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021474",
      "geneNCBI_id": 56623,
      "geneSymbol": "INPP5E",
      "hgvs": [
        "XM_005266094.2:c.1681A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266151.1:p.Ser561Gly",
        "hgvsWellDefined": "XP_005266151.1:p.Ser561Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064913"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826992679",
      "coordinates": [
        {
          "allele": "G",
          "end": 2084,
          "referenceAllele": "A",
          "start": 2083
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021474",
      "geneNCBI_id": 56623,
      "geneSymbol": "INPP5E",
      "hgvs": [
        "NM_001318502.1:c.1681A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305431.1:p.Ser561Gly",
        "hgvsWellDefined": "NP_001305431.1:p.Ser561Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS512916"
    },
    {
      "@id": "http://reg.genome.network/allele/PA279424",
      "coordinates": [
        {
          "allele": "G",
          "end": 2087,
          "referenceAllele": "A",
          "start": 2086
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021474",
      "geneNCBI_id": 56623,
      "geneSymbol": "INPP5E",
      "hgvs": [
        "NM_019892.5:c.1684A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_063945.2:p.Ser562Gly",
        "hgvsWellDefined": "NP_063945.2:p.Ser562Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525948"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2126,
          "referenceAllele": "A",
          "start": 2125
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021474",
      "geneNCBI_id": 56623,
      "geneSymbol": "INPP5E",
      "hgvs": [
        "XM_017014926.1:c.1684A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016870415.1:p.Ser562Gly",
        "hgvsWellDefined": "XP_016870415.1:p.Ser562Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567771"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2289,
          "referenceAllele": "A",
          "start": 2288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021474",
      "geneNCBI_id": 56623,
      "geneSymbol": "INPP5E",
      "hgvs": [
        "XR_929828.2:n.2289A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS609305"
    },
    {
      "@id": "http://reg.genome.network/allele/PA279424",
      "coordinates": [
        {
          "allele": "G",
          "end": 2110,
          "referenceAllele": "A",
          "start": 2109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021474",
      "geneNCBI_id": 56623,
      "geneSymbol": "INPP5E",
      "hgvs": [
        "NM_019892.6:c.1684A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_063945.2:p.Ser562Gly",
        "hgvsWellDefined": "NP_063945.2:p.Ser562Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS669878",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000371712.4:c.1684A>G"
          },
          "RefSeq": {
            "hgvs": "NM_019892.6:c.1684A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000360777.3:p.Ser562Gly"
          },
          "RefSeq": {
            "hgvs": "NP_063945.2:p.Ser562Gly"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826992679",
      "coordinates": [
        {
          "allele": "G",
          "end": 2107,
          "referenceAllele": "A",
          "start": 2106
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021474",
      "geneNCBI_id": 56623,
      "geneSymbol": "INPP5E",
      "hgvs": [
        "NM_001318502.2:c.1681A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305431.1:p.Ser561Gly",
        "hgvsWellDefined": "NP_001305431.1:p.Ser561Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684545"
    }
  ],
  "type": "nucleotide"
}