{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA9058403",
  "communityStandardTitle": [
    "NM_001261826.3(AP3D1):c.3400A>C (p.Ile1134Leu)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1013629[alleleid]",
        "alleleId": 1013629,
        "preferredName": "NM_001261826.3(AP3D1):c.3400A>C (p.Ile1134Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1023191",
        "RCV": [
          "RCV001323198",
          "RCV002546101"
        ],
        "variationId": 1023191
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/19-2109157-T-G",
        "id": "19-2109157-T-G",
        "variant": "19:2109157 T / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.2109157T>G?assembly=hg19",
        "id": "chr19:g.2109157T>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.2109158T>G?assembly=hg38",
        "id": "chr19:g.2109158T>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/25673",
        "rs": 25673
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-2109157-T-G?dataset=gnomad_r2_1",
        "id": "19-2109157-T-G",
        "variant": "19:2109157 T / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-2109158-T-G?dataset=gnomad_r3",
        "id": "19-2109158-T-G",
        "variant": "19:2109158 T / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-2109158-T-G?dataset=gnomad_r4",
        "id": "19-2109158-T-G",
        "variant": "19:2109158 T / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "G",
          "end": 2109158,
          "referenceAllele": "T",
          "start": 2109157
        }
      ],
      "hgvs": [
        "NC_000019.10:g.2109158T>G",
        "CM000681.2:g.2109158T>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "G",
          "end": 2109157,
          "referenceAllele": "T",
          "start": 2109156
        }
      ],
      "hgvs": [
        "NC_000019.9:g.2109157T>G",
        "CM000681.1:g.2109157T>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "G",
          "end": 2060157,
          "referenceAllele": "T",
          "start": 2060156
        }
      ],
      "hgvs": [
        "NC_000019.8:g.2060157T>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 60311,
          "referenceAllele": "A",
          "start": 60310
        }
      ],
      "hgvs": [
        "NG_052886.2:g.60311A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS617241"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1282,
          "referenceAllele": "A",
          "start": 1281
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000568",
      "geneNCBI_id": 8943,
      "geneSymbol": "AP3D1",
      "hgvs": [
        "ENST00000699940.1:n.1282A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910812"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1552,
          "referenceAllele": "A",
          "start": 1551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000568",
      "geneNCBI_id": 8943,
      "geneSymbol": "AP3D1",
      "hgvs": [
        "ENST00000699941.1:n.1552A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910813"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1492,
          "referenceAllele": "A",
          "start": 1491
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000568",
      "geneNCBI_id": 8943,
      "geneSymbol": "AP3D1",
      "hgvs": [
        "ENST00000699942.1:n.1492A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910814"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1588,
          "referenceAllele": "A",
          "start": 1587
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000568",
      "geneNCBI_id": 8943,
      "geneSymbol": "AP3D1",
      "hgvs": [
        "ENST00000699943.1:n.1588A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910815"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3570,
          "referenceAllele": "A",
          "start": 3569
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000568",
      "geneNCBI_id": 8943,
      "geneSymbol": "AP3D1",
      "hgvs": [
        "ENST00000700387.1:c.3364A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514969.1:p.Ile1122Leu",
        "hgvsWellDefined": "ENSP00000514969.1:p.Ile1122Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911172"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 410,
          "endIntronDirection": "-",
          "endIntronOffset": 32,
          "referenceAllele": "A",
          "start": 410,
          "startIntronDirection": "-",
          "startIntronOffset": 33
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000568",
      "geneNCBI_id": 8943,
      "geneSymbol": "AP3D1",
      "hgvs": [
        "ENST00000586370.6:c.411-33A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000468449.2:n.411-33A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761036"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3632,
          "referenceAllele": "A",
          "start": 3631
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000568",
      "geneNCBI_id": 8943,
      "geneSymbol": "AP3D1",
      "hgvs": [
        "ENST00000643116.3:c.3400A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495274.2:p.Ile1134Leu",
        "hgvsWellDefined": "ENSP00000495274.2:p.Ile1134Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767099",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000643116.3:c.3400A>C"
          },
          "RefSeq": {
            "hgvs": "NM_001261826.3:c.3400A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000495274.2:p.Ile1134Leu"
          },
          "RefSeq": {
            "hgvs": "NP_001248755.1:p.Ile1134Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2590,
          "referenceAllele": "A",
          "start": 2589
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000568",
      "geneNCBI_id": 8943,
      "geneSymbol": "AP3D1",
      "hgvs": [
        "ENST00000644728.1:c.2590A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494972.1:p.Ile864Leu",
        "hgvsWellDefined": "ENSP00000494972.1:p.Ile864Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767967"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3437,
          "referenceAllele": "A",
          "start": 3436
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000568",
      "geneNCBI_id": 8943,
      "geneSymbol": "AP3D1",
      "hgvs": [
        "ENST00000345016.9:c.3214A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344055.4:p.Ile1072Leu",
        "hgvsWellDefined": "ENSP00000344055.4:p.Ile1072Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262115"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3607,
          "referenceAllele": "A",
          "start": 3606
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000568",
      "geneNCBI_id": 8943,
      "geneSymbol": "AP3D1",
      "hgvs": [
        "ENST00000355272.10:c.3400A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347416.5:p.Ile1134Leu",
        "hgvsWellDefined": "ENSP00000347416.5:p.Ile1134Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263382"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3007,
          "referenceAllele": "A",
          "start": 3006
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000568",
      "geneNCBI_id": 8943,
      "geneSymbol": "AP3D1",
      "hgvs": [
        "ENST00000585652.5:n.3007A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS388863"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 351,
          "endIntronDirection": "-",
          "endIntronOffset": 32,
          "referenceAllele": "A",
          "start": 351,
          "startIntronDirection": "-",
          "startIntronOffset": 33
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000568",
      "geneNCBI_id": 8943,
      "geneSymbol": "AP3D1",
      "hgvs": [
        "ENST00000586370.5:c.352-33A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS389352"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1925,
          "referenceAllele": "A",
          "start": 1924
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000568",
      "geneNCBI_id": 8943,
      "geneSymbol": "AP3D1",
      "hgvs": [
        "ENST00000589223.5:n.1925A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS391341"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 324,
          "referenceAllele": "A",
          "start": 323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000568",
      "geneNCBI_id": 8943,
      "geneSymbol": "AP3D1",
      "hgvs": [
        "ENST00000589369.2:c.324A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS391444"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 637,
          "referenceAllele": "A",
          "start": 636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000568",
      "geneNCBI_id": 8943,
      "geneSymbol": "AP3D1",
      "hgvs": [
        "ENST00000591650.1:n.637A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS393018"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499243242",
      "coordinates": [
        {
          "allele": "C",
          "end": 3623,
          "referenceAllele": "A",
          "start": 3622
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000568",
      "geneNCBI_id": 8943,
      "geneSymbol": "AP3D1",
      "hgvs": [
        "NM_001261826.1:c.3400A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001248755.1:p.Ile1134Leu",
        "hgvsWellDefined": "NP_001248755.1:p.Ile1134Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020015"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829458070",
      "coordinates": [
        {
          "allele": "C",
          "end": 3437,
          "referenceAllele": "A",
          "start": 3436
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000568",
      "geneNCBI_id": 8943,
      "geneSymbol": "AP3D1",
      "hgvs": [
        "NM_003938.6:c.3214A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_003929.4:p.Ile1072Leu",
        "hgvsWellDefined": "NP_003929.4:p.Ile1072Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029146"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3650,
          "referenceAllele": "A",
          "start": 3649
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000568",
      "geneNCBI_id": 8943,
      "geneSymbol": "AP3D1",
      "hgvs": [
        "XM_006722932.1:c.3364A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006722995.1:p.Ile1122Leu",
        "hgvsWellDefined": "XP_006722995.1:p.Ile1122Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074796"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499243242",
      "coordinates": [
        {
          "allele": "C",
          "end": 3632,
          "referenceAllele": "A",
          "start": 3631
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000568",
      "geneNCBI_id": 8943,
      "geneSymbol": "AP3D1",
      "hgvs": [
        "NM_001261826.3:c.3400A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001248755.1:p.Ile1134Leu",
        "hgvsWellDefined": "NP_001248755.1:p.Ile1134Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS512018",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000643116.3:c.3400A>C"
          },
          "RefSeq": {
            "hgvs": "NM_001261826.3:c.3400A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000495274.2:p.Ile1134Leu"
          },
          "RefSeq": {
            "hgvs": "NP_001248755.1:p.Ile1134Leu"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829458070",
      "coordinates": [
        {
          "allele": "C",
          "end": 3506,
          "referenceAllele": "A",
          "start": 3505
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000568",
      "geneNCBI_id": 8943,
      "geneSymbol": "AP3D1",
      "hgvs": [
        "NM_003938.7:c.3214A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_003929.4:p.Ile1072Leu",
        "hgvsWellDefined": "NP_003929.4:p.Ile1072Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525151"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3650,
          "referenceAllele": "A",
          "start": 3649
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000568",
      "geneNCBI_id": 8943,
      "geneSymbol": "AP3D1",
      "hgvs": [
        "XM_006722932.2:c.3364A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006722995.1:p.Ile1122Leu",
        "hgvsWellDefined": "XP_006722995.1:p.Ile1122Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540649"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2920,
          "referenceAllele": "A",
          "start": 2919
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000568",
      "geneNCBI_id": 8943,
      "geneSymbol": "AP3D1",
      "hgvs": [
        "XM_017027422.1:c.2716A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016882911.1:p.Ile906Leu",
        "hgvsWellDefined": "XP_016882911.1:p.Ile906Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS577373"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828552274",
      "coordinates": [
        {
          "allele": "C",
          "end": 3596,
          "referenceAllele": "A",
          "start": 3595
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000568",
      "geneNCBI_id": 8943,
      "geneSymbol": "AP3D1",
      "hgvs": [
        "NM_001374799.1:c.3364A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361728.1:p.Ile1122Leu",
        "hgvsWellDefined": "NP_001361728.1:p.Ile1122Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693369"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829458070",
      "coordinates": [
        {
          "allele": "C",
          "end": 3446,
          "referenceAllele": "A",
          "start": 3445
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000568",
      "geneNCBI_id": 8943,
      "geneSymbol": "AP3D1",
      "hgvs": [
        "NM_003938.8:c.3214A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_003929.4:p.Ile1072Leu",
        "hgvsWellDefined": "NP_003929.4:p.Ile1072Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695989"
    }
  ],
  "type": "nucleotide"
}