{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA660743",
  "communityStandardTitle": [
    "NM_032409.3(PINK1):c.1231G>A (p.Gly411Ser)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=690474[alleleid]",
        "alleleId": 690474,
        "preferredName": "NM_032409.3(PINK1):c.1231G>A (p.Gly411Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/703421",
        "RCV": [
          "RCV000873018",
          "RCV001093405",
          "RCV003955698"
        ],
        "variationId": 703421
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-20975105-G-A",
        "id": "1-20975105-G-A",
        "variant": "1:20975105 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.20975105G>A?assembly=hg19",
        "id": "chr1:g.20975105G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.20648612G>A?assembly=hg38",
        "id": "chr1:g.20648612G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/45478900",
        "rs": 45478900
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-20975105-G-A?dataset=gnomad_r2_1",
        "id": "1-20975105-G-A",
        "variant": "1:20975105 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-20648612-G-A?dataset=gnomad_r3",
        "id": "1-20648612-G-A",
        "variant": "1:20648612 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-20648612-G-A?dataset=gnomad_r4",
        "id": "1-20648612-G-A",
        "variant": "1:20648612 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 20648612,
          "referenceAllele": "G",
          "start": 20648611
        }
      ],
      "hgvs": [
        "NC_000001.11:g.20648612G>A",
        "CM000663.2:g.20648612G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 20975105,
          "referenceAllele": "G",
          "start": 20975104
        }
      ],
      "hgvs": [
        "NC_000001.10:g.20975105G>A",
        "CM000663.1:g.20975105G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 20847692,
          "referenceAllele": "G",
          "start": 20847691
        }
      ],
      "hgvs": [
        "NC_000001.9:g.20847692G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 20158,
          "referenceAllele": "G",
          "start": 20157
        }
      ],
      "hgvs": [
        "NG_008164.1:g.20158G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000910"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1322,
          "referenceAllele": "G",
          "start": 1321
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014581",
      "geneNCBI_id": 65018,
      "geneSymbol": "PINK1",
      "hgvs": [
        "ENST00000321556.5:c.1231G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364204.3:p.Gly411Ser",
        "hgvsWellDefined": "ENSP00000364204.3:p.Gly411Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746426",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000321556.5:c.1231G>A"
          },
          "RefSeq": {
            "hgvs": "NM_032409.3:c.1231G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000364204.3:p.Gly411Ser"
          },
          "RefSeq": {
            "hgvs": "NP_115785.1:p.Gly411Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1325,
          "referenceAllele": "G",
          "start": 1324
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014581",
      "geneNCBI_id": 65018,
      "geneSymbol": "PINK1",
      "hgvs": [
        "ENST00000321556.4:c.1231G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364204.3:p.Gly411Ser",
        "hgvsWellDefined": "ENSP00000364204.3:p.Gly411Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257960"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 324,
          "referenceAllele": "G",
          "start": 323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014581",
      "geneNCBI_id": 65018,
      "geneSymbol": "PINK1",
      "hgvs": [
        "ENST00000400490.2:n.324G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS279048"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2319,
          "referenceAllele": "G",
          "start": 2318
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014581",
      "geneNCBI_id": 65018,
      "geneSymbol": "PINK1",
      "hgvs": [
        "ENST00000492302.1:n.2319G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS329712"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916067441",
      "coordinates": [
        {
          "allele": "A",
          "end": 1325,
          "referenceAllele": "G",
          "start": 1324
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014581",
      "geneNCBI_id": 65018,
      "geneSymbol": "PINK1",
      "hgvs": [
        "NM_032409.2:c.1231G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_115785.1:p.Gly411Ser",
        "hgvsWellDefined": "NP_115785.1:p.Gly411Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039061"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3582,
          "referenceAllele": "C",
          "start": 3581
        }
      ],
      "gene": "http://reg.genome.network/gene/GN038872",
      "geneNCBI_id": 100861548,
      "geneSymbol": "PINK1-AS",
      "hgvs": [
        "NR_046507.1:n.3582C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS051733"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916067441",
      "coordinates": [
        {
          "allele": "A",
          "end": 1322,
          "referenceAllele": "G",
          "start": 1321
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014581",
      "geneNCBI_id": 65018,
      "geneSymbol": "PINK1",
      "hgvs": [
        "NM_032409.3:c.1231G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_115785.1:p.Gly411Ser",
        "hgvsWellDefined": "NP_115785.1:p.Gly411Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS671304",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000321556.5:c.1231G>A"
          },
          "RefSeq": {
            "hgvs": "NM_032409.3:c.1231G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000364204.3:p.Gly411Ser"
          },
          "RefSeq": {
            "hgvs": "NP_115785.1:p.Gly411Ser"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}