{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA388314662",
  "communityStandardTitle": [
    "NM_006493.4(CLN5):c.990G>C (p.Trp330Cys)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.77575017G>C?assembly=hg19",
        "id": "chr13:g.77575017G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.77000882G>C?assembly=hg38",
        "id": "chr13:g.77000882G>C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "C",
          "end": 77000882,
          "referenceAllele": "G",
          "start": 77000881
        }
      ],
      "hgvs": [
        "NC_000013.11:g.77000882G>C",
        "CM000675.2:g.77000882G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000061"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "C",
          "end": 77575017,
          "referenceAllele": "G",
          "start": 77575016
        }
      ],
      "hgvs": [
        "NC_000013.10:g.77575017G>C",
        "CM000675.1:g.77575017G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000037"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "C",
          "end": 76473018,
          "referenceAllele": "G",
          "start": 76473017
        }
      ],
      "hgvs": [
        "NC_000013.9:g.76473018G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000013"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 13959,
          "referenceAllele": "G",
          "start": 13958
        }
      ],
      "hgvs": [
        "NG_009064.1:g.13959G>C",
        "LRG_692:g.13959G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001406"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1008,
          "referenceAllele": "G",
          "start": 1007
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "ENST00000377453.9:c.990G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000366673.5:p.Trp330Cys",
        "hgvsWellDefined": "ENSP00000366673.5:p.Trp330Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751919",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000377453.9:c.990G>C"
          },
          "RefSeq": {
            "hgvs": "NM_006493.4:c.990G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000366673.5:p.Trp330Cys"
          },
          "RefSeq": {
            "hgvs": "NP_006484.2:p.Trp330Cys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1064,
          "referenceAllele": "G",
          "start": 1063
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "ENST00000616833.6:c.*432G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479547.3:n.*432G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762081"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 174,
          "endIntronDirection": "+",
          "endIntronOffset": 4755,
          "referenceAllele": "G",
          "start": 174,
          "startIntronDirection": "+",
          "startIntronOffset": 4754
        }
      ],
      "hgvs": [
        "ENST00000635838.1:c.174+4755G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS762675"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 566,
          "endIntronDirection": "+",
          "endIntronOffset": 4755,
          "referenceAllele": "G",
          "start": 566,
          "startIntronDirection": "+",
          "startIntronOffset": 4754
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "ENST00000635905.1:n.566+4755G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS762724"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 988,
          "referenceAllele": "G",
          "start": 987
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "ENST00000635915.1:c.988G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS762732"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2429,
          "referenceAllele": "G",
          "start": 2428
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "ENST00000636183.2:c.990G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490181.2:p.Trp330Cys",
        "hgvsWellDefined": "ENSP00000490181.2:p.Trp330Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762933"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 568,
          "endIntronDirection": "+",
          "endIntronOffset": 4755,
          "referenceAllele": "G",
          "start": 568,
          "startIntronDirection": "+",
          "startIntronOffset": 4754
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "ENST00000636525.2:c.565+4755G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490078.2:n.565+4755G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763182"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1342,
          "referenceAllele": "G",
          "start": 1341
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "ENST00000636681.1:c.*681G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489922.1:n.*681G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763305"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 826,
          "referenceAllele": "G",
          "start": 825
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "ENST00000636705.1:c.826G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763321"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 566,
          "endIntronDirection": "+",
          "endIntronOffset": 4755,
          "referenceAllele": "G",
          "start": 566,
          "startIntronDirection": "+",
          "startIntronOffset": 4754
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "ENST00000636767.2:c.565+4755G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489855.2:n.565+4755G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763364"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1088,
          "referenceAllele": "G",
          "start": 1087
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "ENST00000636780.2:c.*439G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489809.2:n.*439G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763375"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 213,
          "endIntronDirection": "+",
          "endIntronOffset": 4755,
          "referenceAllele": "G",
          "start": 213,
          "startIntronDirection": "+",
          "startIntronOffset": 4754
        }
      ],
      "hgvs": [
        "ENST00000637192.1:c.213+4755G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763681"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1316,
          "referenceAllele": "G",
          "start": 1315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "ENST00000637278.1:n.1316G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763748"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 577,
          "endIntronDirection": "+",
          "endIntronOffset": 4755,
          "referenceAllele": "G",
          "start": 577,
          "startIntronDirection": "+",
          "startIntronOffset": 4754
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "ENST00000637397.2:c.565+4755G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490422.2:n.565+4755G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763836"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 169,
          "endIntronDirection": "+",
          "endIntronOffset": 4755,
          "referenceAllele": "G",
          "start": 169,
          "startIntronDirection": "+",
          "startIntronOffset": 4754
        }
      ],
      "hgvs": [
        "ENST00000638101.1:c.169+4755G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490535.1:n.169+4755G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764342"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 586,
          "endIntronDirection": "+",
          "endIntronOffset": 4755,
          "referenceAllele": "G",
          "start": 586,
          "startIntronDirection": "+",
          "startIntronOffset": 4754
        }
      ],
      "hgvs": [
        "ENST00000638147.2:c.565+4755G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490953.2:n.565+4755G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764377"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2429,
          "referenceAllele": "G",
          "start": 2428
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "ENST00000377453.7:c.1137G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000366673.3:p.Trp379Cys",
        "hgvsWellDefined": "ENSP00000366673.3:p.Trp379Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271604"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1427,
          "referenceAllele": "C",
          "start": 1426
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013599",
      "geneNCBI_id": 26224,
      "geneSymbol": "FBXL3",
      "hgvs": [
        "ENST00000477982.2:n.1427C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS318680"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 173,
          "endIntronDirection": "-",
          "endIntronOffset": 7930,
          "referenceAllele": "C",
          "start": 173,
          "startIntronDirection": "-",
          "startIntronOffset": 7931
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013599",
      "geneNCBI_id": 26224,
      "geneSymbol": "FBXL3",
      "hgvs": [
        "ENST00000485797.2:n.174-7931C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS324744"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1005,
          "referenceAllele": "G",
          "start": 1004
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "ENST00000616833.4:c.990G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479547.1:p.Trp330Cys",
        "hgvsWellDefined": "ENSP00000479547.1:p.Trp330Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403223"
    },
    {
      "@id": "http://reg.genome.network/allele/PA263882",
      "coordinates": [
        {
          "allele": "C",
          "end": 1165,
          "referenceAllele": "G",
          "start": 1164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "NM_006493.2:c.1137G>C",
        "LRG_692t1:c.1137G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_006484.1:p.Trp379Cys",
        "hgvsWellDefined": "NP_006484.1:p.Trp379Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031503"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1051,
          "referenceAllele": "G",
          "start": 1050
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "NM_001366624.1:c.*439G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001353553.1:n.*439G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524748"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915976676",
      "coordinates": [
        {
          "allele": "C",
          "end": 1008,
          "referenceAllele": "G",
          "start": 1007
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "NM_006493.3:c.990G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_006484.2:p.Trp330Cys",
        "hgvsWellDefined": "NP_006484.2:p.Trp330Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525406"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 982,
          "endIntronDirection": "-",
          "endIntronOffset": 7930,
          "referenceAllele": "C",
          "start": 982,
          "startIntronDirection": "-",
          "startIntronOffset": 7931
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013599",
      "geneNCBI_id": 26224,
      "geneSymbol": "FBXL3",
      "hgvs": [
        "XM_017020538.2:c.644-7931C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016876027.1:n.644-7931C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572004"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1051,
          "referenceAllele": "G",
          "start": 1050
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "NM_001366624.2:c.*439G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001353553.1:n.*439G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691217"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915976676",
      "coordinates": [
        {
          "allele": "C",
          "end": 1008,
          "referenceAllele": "G",
          "start": 1007
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "NM_006493.4:c.990G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_006484.2:p.Trp330Cys",
        "hgvsWellDefined": "NP_006484.2:p.Trp330Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696728",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000377453.9:c.990G>C"
          },
          "RefSeq": {
            "hgvs": "NM_006493.4:c.990G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000366673.5:p.Trp330Cys"
          },
          "RefSeq": {
            "hgvs": "NP_006484.2:p.Trp330Cys"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}