{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA493477501",
  "communityStandardTitle": [
    "NM_002582.4(PARN):c.1818A>G (p.Lys606=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1627153[alleleid]",
        "alleleId": 1627153,
        "preferredName": "NM_002582.4(PARN):c.1818A>G (p.Lys606=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1585218",
        "RCV": [
          "RCV002112451"
        ],
        "variationId": 1585218
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.14540791T>C?assembly=hg19",
        "id": "chr16:g.14540791T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.14446934T>C?assembly=hg38",
        "id": "chr16:g.14446934T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1331268805",
        "rs": 1331268805
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-14540791-T-C?dataset=gnomad_r2_1",
        "id": "16-14540791-T-C",
        "variant": "16:14540791 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-14446934-T-C?dataset=gnomad_r4",
        "id": "16-14446934-T-C",
        "variant": "16:14446934 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 14446934,
          "referenceAllele": "T",
          "start": 14446933
        }
      ],
      "hgvs": [
        "NC_000016.10:g.14446934T>C",
        "CM000678.2:g.14446934T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 14540791,
          "referenceAllele": "T",
          "start": 14540790
        }
      ],
      "hgvs": [
        "NC_000016.9:g.14540791T>C",
        "CM000678.1:g.14540791T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 14448292,
          "referenceAllele": "T",
          "start": 14448291
        }
      ],
      "hgvs": [
        "NC_000016.8:g.14448292T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 188338,
          "referenceAllele": "A",
          "start": 188337
        }
      ],
      "hgvs": [
        "NG_042871.1:g.188338A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS006056"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2269,
          "referenceAllele": "A",
          "start": 2268
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008609",
      "geneNCBI_id": 5073,
      "geneSymbol": "PARN",
      "hgvs": [
        "ENST00000697471.1:n.2269A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908796"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1859,
          "referenceAllele": "A",
          "start": 1858
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008609",
      "geneNCBI_id": 5073,
      "geneSymbol": "PARN",
      "hgvs": [
        "ENST00000697472.1:n.1859A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908797"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3420,
          "referenceAllele": "A",
          "start": 3419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008609",
      "geneNCBI_id": 5073,
      "geneSymbol": "PARN",
      "hgvs": [
        "ENST00000697473.1:n.3420A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908798"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1951,
          "referenceAllele": "A",
          "start": 1950
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008609",
      "geneNCBI_id": 5073,
      "geneSymbol": "PARN",
      "hgvs": [
        "ENST00000697474.1:c.1818A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513329.1:p.Lys606="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908799"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1953,
          "referenceAllele": "A",
          "start": 1952
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008609",
      "geneNCBI_id": 5073,
      "geneSymbol": "PARN",
      "hgvs": [
        "ENST00000437198.7:c.1818A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387911.2:p.Lys606="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755653",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000437198.7:c.1818A>G"
          },
          "RefSeq": {
            "hgvs": "NM_002582.4:c.1818A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000387911.2:p.Lys606="
          },
          "RefSeq": {
            "hgvs": "NP_002573.1:p.Lys606="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1976,
          "referenceAllele": "A",
          "start": 1975
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008609",
      "geneNCBI_id": 5073,
      "geneSymbol": "PARN",
      "hgvs": [
        "ENST00000650990.1:c.1893A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498741.1:p.Lys631="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771411"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1933,
          "referenceAllele": "A",
          "start": 1932
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008609",
      "geneNCBI_id": 5073,
      "geneSymbol": "PARN",
      "hgvs": [
        "ENST00000651300.1:c.*1625A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498294.1:n.*1625A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771584"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2073,
          "referenceAllele": "A",
          "start": 2072
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008609",
      "geneNCBI_id": 5073,
      "geneSymbol": "PARN",
      "hgvs": [
        "ENST00000651348.1:c.*889A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498315.1:n.*889A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771617"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3006,
          "referenceAllele": "A",
          "start": 3005
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008609",
      "geneNCBI_id": 5073,
      "geneSymbol": "PARN",
      "hgvs": [
        "ENST00000651760.1:c.3006A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS771841"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1878,
          "referenceAllele": "A",
          "start": 1877
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008609",
      "geneNCBI_id": 5073,
      "geneSymbol": "PARN",
      "hgvs": [
        "ENST00000651865.1:c.1743A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498567.1:p.Lys581="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771900"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2045,
          "referenceAllele": "A",
          "start": 2044
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008609",
      "geneNCBI_id": 5073,
      "geneSymbol": "PARN",
      "hgvs": [
        "ENST00000652051.1:c.*594A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498898.1:n.*594A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772002"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1719,
          "referenceAllele": "A",
          "start": 1718
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008609",
      "geneNCBI_id": 5073,
      "geneSymbol": "PARN",
      "hgvs": [
        "ENST00000652066.1:c.1719A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS772008"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1970,
          "referenceAllele": "A",
          "start": 1969
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008609",
      "geneNCBI_id": 5073,
      "geneSymbol": "PARN",
      "hgvs": [
        "ENST00000652541.1:c.*1650A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499206.1:n.*1650A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772264"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1730,
          "referenceAllele": "A",
          "start": 1729
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008609",
      "geneNCBI_id": 5073,
      "geneSymbol": "PARN",
      "hgvs": [
        "ENST00000652727.1:c.1644A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498650.1:p.Lys548="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772374"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1886,
          "referenceAllele": "A",
          "start": 1885
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008609",
      "geneNCBI_id": 5073,
      "geneSymbol": "PARN",
      "hgvs": [
        "ENST00000341484.11:c.1635A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000345456.7:p.Lys545="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261346"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1814,
          "referenceAllele": "A",
          "start": 1813
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008609",
      "geneNCBI_id": 5073,
      "geneSymbol": "PARN",
      "hgvs": [
        "ENST00000420015.6:c.1680A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000410525.2:p.Lys560="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS286137"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1960,
          "referenceAllele": "A",
          "start": 1959
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008609",
      "geneNCBI_id": 5073,
      "geneSymbol": "PARN",
      "hgvs": [
        "ENST00000437198.6:c.1818A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387911.2:p.Lys606="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294348"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1406,
          "referenceAllele": "A",
          "start": 1405
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008609",
      "geneNCBI_id": 5073,
      "geneSymbol": "PARN",
      "hgvs": [
        "ENST00000539279.5:c.1293A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000444381.1:p.Lys431="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS361777"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825781275",
      "coordinates": [
        {
          "allele": "G",
          "end": 1881,
          "referenceAllele": "A",
          "start": 1880
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008609",
      "geneNCBI_id": 5073,
      "geneSymbol": "PARN",
      "hgvs": [
        "NM_001134477.2:c.1635A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001127949.1:p.Lys545="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012260"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826314087",
      "coordinates": [
        {
          "allele": "G",
          "end": 1826,
          "referenceAllele": "A",
          "start": 1825
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008609",
      "geneNCBI_id": 5073,
      "geneSymbol": "PARN",
      "hgvs": [
        "NM_001242992.1:c.1680A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001229921.1:p.Lys560="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018387"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829381790",
      "coordinates": [
        {
          "allele": "G",
          "end": 1964,
          "referenceAllele": "A",
          "start": 1963
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008609",
      "geneNCBI_id": 5073,
      "geneSymbol": "PARN",
      "hgvs": [
        "NM_002582.3:c.1818A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_002573.1:p.Lys606="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027882"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829381790",
      "coordinates": [
        {
          "allele": "G",
          "end": 1953,
          "referenceAllele": "A",
          "start": 1952
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008609",
      "geneNCBI_id": 5073,
      "geneSymbol": "PARN",
      "hgvs": [
        "NM_002582.4:c.1818A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_002573.1:p.Lys606="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525014",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000437198.7:c.1818A>G"
          },
          "RefSeq": {
            "hgvs": "NM_002582.4:c.1818A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000387911.2:p.Lys606="
          },
          "RefSeq": {
            "hgvs": "NP_002573.1:p.Lys606="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825781275",
      "coordinates": [
        {
          "allele": "G",
          "end": 1870,
          "referenceAllele": "A",
          "start": 1869
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008609",
      "geneNCBI_id": 5073,
      "geneSymbol": "PARN",
      "hgvs": [
        "NM_001134477.3:c.1635A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001127949.1:p.Lys545="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677237"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826314087",
      "coordinates": [
        {
          "allele": "G",
          "end": 1815,
          "referenceAllele": "A",
          "start": 1814
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008609",
      "geneNCBI_id": 5073,
      "geneSymbol": "PARN",
      "hgvs": [
        "NM_001242992.2:c.1680A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001229921.1:p.Lys560="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680167"
    }
  ],
  "type": "nucleotide"
}