{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1757667555",
  "communityStandardTitle": [
    "NM_018941.4(CLN8):c.509C= (p.Thr170=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/188259026",
        "rs": 188259026
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "C",
          "end": 1771563,
          "referenceAllele": "C",
          "start": 1771562
        }
      ],
      "hgvs": [
        "NC_000008.11:g.1771563C=",
        "CM000670.2:g.1771563C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "C",
          "end": 1719729,
          "referenceAllele": "C",
          "start": 1719728
        }
      ],
      "hgvs": [
        "NC_000008.10:g.1719729C=",
        "CM000670.1:g.1719729C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "C",
          "end": 1707136,
          "referenceAllele": "C",
          "start": 1707135
        }
      ],
      "hgvs": [
        "NC_000008.9:g.1707136C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 20786,
          "referenceAllele": "C",
          "start": 20785
        }
      ],
      "hgvs": [
        "NG_008656.2:g.20786C=",
        "LRG_691:g.20786C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001149"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 729,
          "referenceAllele": "C",
          "start": 728
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002079",
      "geneNCBI_id": 2055,
      "geneSymbol": "CLN8",
      "hgvs": [
        "ENST00000331222.6:c.509C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000328182.4:p.Thr170="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747132",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000331222.6:c.509C="
          },
          "RefSeq": {
            "hgvs": "NM_018941.4:c.509C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000328182.4:p.Thr170="
          },
          "RefSeq": {
            "hgvs": "NP_061764.2:p.Thr170="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 684,
          "referenceAllele": "C",
          "start": 683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002079",
      "geneNCBI_id": 2055,
      "geneSymbol": "CLN8",
      "hgvs": [
        "ENST00000519254.2:c.509C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490016.1:p.Thr170="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758642"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 686,
          "referenceAllele": "C",
          "start": 685
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002079",
      "geneNCBI_id": 2055,
      "geneSymbol": "CLN8",
      "hgvs": [
        "ENST00000520991.3:c.509C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000487905.2:p.Thr170="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758710"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 797,
          "referenceAllele": "C",
          "start": 796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002079",
      "geneNCBI_id": 2055,
      "geneSymbol": "CLN8",
      "hgvs": [
        "ENST00000635751.1:c.509C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489694.1:p.Thr170="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762614"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 462,
          "referenceAllele": "C",
          "start": 461
        }
      ],
      "hgvs": [
        "ENST00000635773.1:c.462C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS762632"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 686,
          "referenceAllele": "C",
          "start": 685
        }
      ],
      "hgvs": [
        "ENST00000635855.1:c.509C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489726.1:p.Thr170="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762685"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 703,
          "referenceAllele": "C",
          "start": 702
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002079",
      "geneNCBI_id": 2055,
      "geneSymbol": "CLN8",
      "hgvs": [
        "ENST00000635970.1:c.509C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490439.1:p.Thr170="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762775"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 309,
          "referenceAllele": "C",
          "start": 308
        }
      ],
      "hgvs": [
        "ENST00000636175.1:c.309C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS762926"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 718,
          "referenceAllele": "C",
          "start": 717
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002079",
      "geneNCBI_id": 2055,
      "geneSymbol": "CLN8",
      "hgvs": [
        "ENST00000636934.1:c.509C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490218.1:p.Thr170="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763487"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 859,
          "referenceAllele": "C",
          "start": 858
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002079",
      "geneNCBI_id": 2055,
      "geneSymbol": "CLN8",
      "hgvs": [
        "ENST00000637083.1:c.509C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490235.1:p.Thr170="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763598"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 758,
          "referenceAllele": "C",
          "start": 757
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002079",
      "geneNCBI_id": 2055,
      "geneSymbol": "CLN8",
      "hgvs": [
        "ENST00000637156.1:c.509C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490458.1:p.Thr170="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763651"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 756,
          "referenceAllele": "C",
          "start": 755
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002079",
      "geneNCBI_id": 2055,
      "geneSymbol": "CLN8",
      "hgvs": [
        "ENST00000331222.4:c.509C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000328182.4:p.Thr170="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259362"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 755,
          "referenceAllele": "C",
          "start": 754
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002079",
      "geneNCBI_id": 2055,
      "geneSymbol": "CLN8",
      "hgvs": [
        "ENST00000520991.2:c.509C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000487905.1:p.Thr170="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS347916"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829923462",
      "coordinates": [
        {
          "allele": "C",
          "end": 814,
          "referenceAllele": "C",
          "start": 813
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002079",
      "geneNCBI_id": 2055,
      "geneSymbol": "CLN8",
      "hgvs": [
        "NM_018941.3:c.509C=",
        "LRG_691t1:c.509C="
      ],
      "proteinEffect": {
        "hgvs": "NP_061764.2:p.Thr170="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS035953"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 758,
          "referenceAllele": "C",
          "start": 757
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002079",
      "geneNCBI_id": 2055,
      "geneSymbol": "CLN8",
      "hgvs": [
        "XM_005266021.3:c.509C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005266078.1:p.Thr170="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064891"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 937,
          "referenceAllele": "C",
          "start": 936
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002079",
      "geneNCBI_id": 2055,
      "geneSymbol": "CLN8",
      "hgvs": [
        "XM_005266022.1:c.509C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005266079.1:p.Thr170="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064892"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 655,
          "referenceAllele": "C",
          "start": 654
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002079",
      "geneNCBI_id": 2055,
      "geneSymbol": "CLN8",
      "hgvs": [
        "XM_005266023.1:c.509C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005266080.1:p.Thr170="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064893"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 759,
          "referenceAllele": "C",
          "start": 758
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002079",
      "geneNCBI_id": 2055,
      "geneSymbol": "CLN8",
      "hgvs": [
        "XM_011534745.1:c.509C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011533047.1:p.Thr170="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101757"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 655,
          "referenceAllele": "C",
          "start": 654
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002079",
      "geneNCBI_id": 2055,
      "geneSymbol": "CLN8",
      "hgvs": [
        "XM_011534746.1:c.509C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011533048.1:p.Thr170="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101758"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 814,
          "referenceAllele": "C",
          "start": 813
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002079",
      "geneNCBI_id": 2055,
      "geneSymbol": "CLN8",
      "hgvs": [
        "XM_011534747.1:c.509C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011533049.1:p.Thr170="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101759"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 668,
          "referenceAllele": "C",
          "start": 667
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002079",
      "geneNCBI_id": 2055,
      "geneSymbol": "CLN8",
      "hgvs": [
        "XM_005266021.4:c.509C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005266078.1:p.Thr170="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536158"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 656,
          "referenceAllele": "C",
          "start": 655
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002079",
      "geneNCBI_id": 2055,
      "geneSymbol": "CLN8",
      "hgvs": [
        "XM_011534746.2:c.509C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011533048.1:p.Thr170="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551739"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 758,
          "referenceAllele": "C",
          "start": 757
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002079",
      "geneNCBI_id": 2055,
      "geneSymbol": "CLN8",
      "hgvs": [
        "XM_011534747.2:c.509C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011533049.1:p.Thr170="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551740"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829923462",
      "coordinates": [
        {
          "allele": "C",
          "end": 729,
          "referenceAllele": "C",
          "start": 728
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002079",
      "geneNCBI_id": 2055,
      "geneSymbol": "CLN8",
      "hgvs": [
        "NM_018941.4:c.509C="
      ],
      "proteinEffect": {
        "hgvs": "NP_061764.2:p.Thr170="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698107",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000331222.6:c.509C="
          },
          "RefSeq": {
            "hgvs": "NM_018941.4:c.509C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000328182.4:p.Thr170="
          },
          "RefSeq": {
            "hgvs": "NP_061764.2:p.Thr170="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}