{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA263884",
  "communityStandardTitle": [
    "NM_006493.4(CLN5):c.188G>C (p.Arg63Pro)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=71172[alleleid]",
        "alleleId": 71172,
        "preferredName": "NM_006493.4(CLN5):c.188G>C (p.Arg63Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/56533",
        "RCV": [
          "RCV000049946",
          "RCV000989149"
        ],
        "variationId": 56533
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.77569212G>C?assembly=hg19",
        "id": "chr13:g.77569212G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.76995077G>C?assembly=hg38",
        "id": "chr13:g.76995077G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/104894386",
        "rs": 104894386
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "C",
          "end": 76995077,
          "referenceAllele": "G",
          "start": 76995076
        }
      ],
      "hgvs": [
        "NC_000013.11:g.76995077G>C",
        "CM000675.2:g.76995077G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000061"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "C",
          "end": 77569212,
          "referenceAllele": "G",
          "start": 77569211
        }
      ],
      "hgvs": [
        "NC_000013.10:g.77569212G>C",
        "CM000675.1:g.77569212G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000037"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "C",
          "end": 76467213,
          "referenceAllele": "G",
          "start": 76467212
        }
      ],
      "hgvs": [
        "NC_000013.9:g.76467213G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000013"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8154,
          "referenceAllele": "G",
          "start": 8153
        }
      ],
      "hgvs": [
        "NG_009064.1:g.8154G>C",
        "LRG_692:g.8154G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001406"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 206,
          "referenceAllele": "G",
          "start": 205
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "ENST00000377453.9:c.188G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000366673.5:p.Arg63Pro",
        "hgvsWellDefined": "ENSP00000366673.5:p.Arg63Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751919",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000377453.9:c.188G>C"
          },
          "RefSeq": {
            "hgvs": "NM_006493.4:c.188G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000366673.5:p.Arg63Pro"
          },
          "RefSeq": {
            "hgvs": "NP_006484.2:p.Arg63Pro"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 228,
          "referenceAllele": "G",
          "start": 227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "ENST00000485938.4:c.188G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482959.3:p.Arg63Pro",
        "hgvsWellDefined": "ENSP00000482959.3:p.Arg63Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757521"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 196,
          "referenceAllele": "G",
          "start": 195
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "ENST00000616833.6:c.188G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479547.3:p.Arg63Pro",
        "hgvsWellDefined": "ENSP00000479547.3:p.Arg63Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762081"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 189,
          "referenceAllele": "G",
          "start": 188
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "ENST00000635905.1:n.189G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS762724"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 127,
          "referenceAllele": "G",
          "start": 126
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "ENST00000635915.1:c.127G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS762732"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 198,
          "referenceAllele": "G",
          "start": 197
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "ENST00000635989.1:n.198G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS762788"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1627,
          "referenceAllele": "G",
          "start": 1626
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "ENST00000636183.2:c.188G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490181.2:p.Arg63Pro",
        "hgvsWellDefined": "ENSP00000490181.2:p.Arg63Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762933"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1027,
          "referenceAllele": "G",
          "start": 1026
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "ENST00000636520.1:n.1027G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763177"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 191,
          "referenceAllele": "G",
          "start": 190
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "ENST00000636525.2:c.188G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490078.2:p.Arg63Pro",
        "hgvsWellDefined": "ENSP00000490078.2:p.Arg63Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763182"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 483,
          "referenceAllele": "G",
          "start": 482
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "ENST00000636681.1:c.-68G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489922.1:n.-68G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763305"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 24,
          "referenceAllele": "G",
          "start": 23
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "ENST00000636705.1:c.24G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763321"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 189,
          "referenceAllele": "G",
          "start": 188
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "ENST00000636767.2:c.188G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489855.2:p.Arg63Pro",
        "hgvsWellDefined": "ENSP00000489855.2:p.Arg63Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763364"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 243,
          "referenceAllele": "G",
          "start": 242
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "ENST00000636780.2:c.188G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489809.2:p.Arg63Pro",
        "hgvsWellDefined": "ENSP00000489809.2:p.Arg63Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763375"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 200,
          "referenceAllele": "G",
          "start": 199
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "ENST00000637397.2:c.188G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490422.2:p.Arg63Pro",
        "hgvsWellDefined": "ENSP00000490422.2:p.Arg63Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763836"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 209,
          "referenceAllele": "G",
          "start": 208
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "ENST00000637537.2:c.188G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489711.2:p.Arg63Pro",
        "hgvsWellDefined": "ENSP00000489711.2:p.Arg63Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763931"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 209,
          "referenceAllele": "G",
          "start": 208
        }
      ],
      "hgvs": [
        "ENST00000638147.2:c.188G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490953.2:p.Arg63Pro",
        "hgvsWellDefined": "ENSP00000490953.2:p.Arg63Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764377"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1627,
          "referenceAllele": "G",
          "start": 1626
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "ENST00000377453.7:c.335G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000366673.3:p.Arg112Pro",
        "hgvsWellDefined": "ENSP00000366673.3:p.Arg112Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271604"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 173,
          "endIntronDirection": "-",
          "endIntronOffset": 2125,
          "referenceAllele": "C",
          "start": 173,
          "startIntronDirection": "-",
          "startIntronOffset": 2126
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013599",
      "geneNCBI_id": 26224,
      "geneSymbol": "FBXL3",
      "hgvs": [
        "ENST00000485797.2:n.174-2126C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS324744"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 171,
          "referenceAllele": "G",
          "start": 170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "ENST00000485938.2:c.171G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS324853"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 203,
          "referenceAllele": "G",
          "start": 202
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "ENST00000616833.4:c.188G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479547.1:p.Arg63Pro",
        "hgvsWellDefined": "ENSP00000479547.1:p.Arg63Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403223"
    },
    {
      "@id": "http://reg.genome.network/allele/PA263886",
      "coordinates": [
        {
          "allele": "C",
          "end": 363,
          "referenceAllele": "G",
          "start": 362
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "NM_006493.2:c.335G>C",
        "LRG_692t1:c.335G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_006484.1:p.Arg112Pro",
        "hgvsWellDefined": "NP_006484.1:p.Arg112Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031503"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 350,
          "referenceAllele": "G",
          "start": 349
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "XM_011534917.1:c.335G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533219.1:p.Arg112Pro",
        "hgvsWellDefined": "XP_011533219.1:p.Arg112Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101928"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828215195",
      "coordinates": [
        {
          "allele": "C",
          "end": 206,
          "referenceAllele": "G",
          "start": 205
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "NM_001366624.1:c.188G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001353553.1:p.Arg63Pro",
        "hgvsWellDefined": "NP_001353553.1:p.Arg63Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524748"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915976507",
      "coordinates": [
        {
          "allele": "C",
          "end": 206,
          "referenceAllele": "G",
          "start": 205
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "NM_006493.3:c.188G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_006484.2:p.Arg63Pro",
        "hgvsWellDefined": "NP_006484.2:p.Arg63Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525406"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 982,
          "endIntronDirection": "-",
          "endIntronOffset": 2125,
          "referenceAllele": "C",
          "start": 982,
          "startIntronDirection": "-",
          "startIntronOffset": 2126
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013599",
      "geneNCBI_id": 26224,
      "geneSymbol": "FBXL3",
      "hgvs": [
        "XM_017020538.2:c.644-2126C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016876027.1:n.644-2126C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572004"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828215195",
      "coordinates": [
        {
          "allele": "C",
          "end": 206,
          "referenceAllele": "G",
          "start": 205
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "NM_001366624.2:c.188G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001353553.1:p.Arg63Pro",
        "hgvsWellDefined": "NP_001353553.1:p.Arg63Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691217"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915976507",
      "coordinates": [
        {
          "allele": "C",
          "end": 206,
          "referenceAllele": "G",
          "start": 205
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "NM_006493.4:c.188G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_006484.2:p.Arg63Pro",
        "hgvsWellDefined": "NP_006484.2:p.Arg63Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696728",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000377453.9:c.188G>C"
          },
          "RefSeq": {
            "hgvs": "NM_006493.4:c.188G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000366673.5:p.Arg63Pro"
          },
          "RefSeq": {
            "hgvs": "NP_006484.2:p.Arg63Pro"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}