{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA030200",
  "communityStandardTitle": [
    "NM_007262.5(PARK7):c.487G>A (p.Glu163Lys)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=22107[alleleid]",
        "alleleId": 22107,
        "preferredName": "NM_007262.5(PARK7):c.487G>A (p.Glu163Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/487089",
        "variationId": 487089
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-8045031-G-A",
        "id": "1-8045031-G-A",
        "variant": "1:8045031 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.8045031G>A?assembly=hg19",
        "id": "chr1:g.8045031G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.7984971G>A?assembly=hg38",
        "id": "chr1:g.7984971G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/74315354",
        "rs": 74315354
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-8045031-G-A?dataset=gnomad_r2_1",
        "id": "1-8045031-G-A",
        "variant": "1:8045031 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-7984971-G-A?dataset=gnomad_r3",
        "id": "1-7984971-G-A",
        "variant": "1:7984971 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-7984971-G-A?dataset=gnomad_r4",
        "id": "1-7984971-G-A",
        "variant": "1:7984971 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 7984971,
          "referenceAllele": "G",
          "start": 7984970
        }
      ],
      "hgvs": [
        "NC_000001.11:g.7984971G>A",
        "CM000663.2:g.7984971G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 8045031,
          "referenceAllele": "G",
          "start": 8045030
        }
      ],
      "hgvs": [
        "NC_000001.10:g.8045031G>A",
        "CM000663.1:g.8045031G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 7967618,
          "referenceAllele": "G",
          "start": 7967617
        }
      ],
      "hgvs": [
        "NC_000001.9:g.7967618G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 28318,
          "referenceAllele": "G",
          "start": 28317
        }
      ],
      "hgvs": [
        "NG_008271.1:g.28318G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000986"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 593,
          "referenceAllele": "G",
          "start": 592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016369",
      "geneNCBI_id": 11315,
      "geneSymbol": "PARK7",
      "hgvs": [
        "ENST00000338639.10:c.487G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000340278.5:p.Glu163Lys",
        "hgvsWellDefined": "ENSP00000340278.5:p.Glu163Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747755",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000338639.10:c.487G>A"
          },
          "RefSeq": {
            "hgvs": "NM_007262.5:c.487G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000340278.5:p.Glu163Lys"
          },
          "RefSeq": {
            "hgvs": "NP_009193.2:p.Glu163Lys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 641,
          "referenceAllele": "G",
          "start": 640
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016369",
      "geneNCBI_id": 11315,
      "geneSymbol": "PARK7",
      "hgvs": [
        "ENST00000338639.9:c.487G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000340278.5:p.Glu163Lys",
        "hgvsWellDefined": "ENSP00000340278.5:p.Glu163Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260703"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 643,
          "referenceAllele": "G",
          "start": 642
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016369",
      "geneNCBI_id": 11315,
      "geneSymbol": "PARK7",
      "hgvs": [
        "ENST00000377488.5:c.487G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000366708.1:p.Glu163Lys",
        "hgvsWellDefined": "ENSP00000366708.1:p.Glu163Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271618"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 698,
          "referenceAllele": "G",
          "start": 697
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016369",
      "geneNCBI_id": 11315,
      "geneSymbol": "PARK7",
      "hgvs": [
        "ENST00000377491.5:c.487G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000366711.1:p.Glu163Lys",
        "hgvsWellDefined": "ENSP00000366711.1:p.Glu163Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271620"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 485,
          "referenceAllele": "G",
          "start": 484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016369",
      "geneNCBI_id": 11315,
      "geneSymbol": "PARK7",
      "hgvs": [
        "ENST00000377493.9:c.427G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466242.1:p.Glu143Lys",
        "hgvsWellDefined": "ENSP00000466242.1:p.Glu143Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271621"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 400,
          "referenceAllele": "G",
          "start": 399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016369",
      "geneNCBI_id": 11315,
      "geneSymbol": "PARK7",
      "hgvs": [
        "ENST00000469225.1:c.400G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466756.1:p.Glu134Lys",
        "hgvsWellDefined": "ENSP00000466756.1:p.Glu134Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS311961"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 543,
          "referenceAllele": "G",
          "start": 542
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016369",
      "geneNCBI_id": 11315,
      "geneSymbol": "PARK7",
      "hgvs": [
        "ENST00000493373.5:c.487G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465404.1:p.Glu163Lys",
        "hgvsWellDefined": "ENSP00000465404.1:p.Glu163Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS330535"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 554,
          "referenceAllele": "G",
          "start": 553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016369",
      "geneNCBI_id": 11315,
      "geneSymbol": "PARK7",
      "hgvs": [
        "ENST00000493678.5:c.487G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418770.1:p.Glu163Lys",
        "hgvsWellDefined": "ENSP00000418770.1:p.Glu163Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS330779"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 592,
          "referenceAllele": "G",
          "start": 591
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016369",
      "geneNCBI_id": 11315,
      "geneSymbol": "PARK7",
      "hgvs": [
        "NM_001123377.1:c.487G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001116849.1:p.Glu163Lys",
        "hgvsWellDefined": "NP_001116849.1:p.Glu163Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011453"
    },
    {
      "@id": "http://reg.genome.network/allele/PA030253",
      "coordinates": [
        {
          "allele": "A",
          "end": 650,
          "referenceAllele": "G",
          "start": 649
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016369",
      "geneNCBI_id": 11315,
      "geneSymbol": "PARK7",
      "hgvs": [
        "NM_007262.4:c.487G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_009193.2:p.Glu163Lys",
        "hgvsWellDefined": "NP_009193.2:p.Glu163Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032183"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 670,
          "referenceAllele": "G",
          "start": 669
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016369",
      "geneNCBI_id": 11315,
      "geneSymbol": "PARK7",
      "hgvs": [
        "XM_005263424.2:c.487G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005263481.1:p.Glu163Lys",
        "hgvsWellDefined": "XP_005263481.1:p.Glu163Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063806"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 670,
          "referenceAllele": "G",
          "start": 669
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016369",
      "geneNCBI_id": 11315,
      "geneSymbol": "PARK7",
      "hgvs": [
        "XM_005263424.3:c.487G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005263481.1:p.Glu163Lys",
        "hgvsWellDefined": "XP_005263481.1:p.Glu163Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535672"
    },
    {
      "@id": "http://reg.genome.network/allele/PA030253",
      "coordinates": [
        {
          "allele": "A",
          "end": 593,
          "referenceAllele": "G",
          "start": 592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016369",
      "geneNCBI_id": 11315,
      "geneSymbol": "PARK7",
      "hgvs": [
        "NM_007262.5:c.487G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_009193.2:p.Glu163Lys",
        "hgvsWellDefined": "NP_009193.2:p.Glu163Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667837",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000338639.10:c.487G>A"
          },
          "RefSeq": {
            "hgvs": "NM_007262.5:c.487G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000340278.5:p.Glu163Lys"
          },
          "RefSeq": {
            "hgvs": "NP_009193.2:p.Glu163Lys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 535,
          "referenceAllele": "G",
          "start": 534
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016369",
      "geneNCBI_id": 11315,
      "geneSymbol": "PARK7",
      "hgvs": [
        "NM_001123377.2:c.487G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001116849.1:p.Glu163Lys",
        "hgvsWellDefined": "NP_001116849.1:p.Glu163Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712165"
    }
  ],
  "type": "nucleotide"
}