{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA252175712",
  "communityStandardTitle": [
    "NM_006493.4(CLN5):c.153C>G (p.Arg51=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1638832[alleleid]",
        "alleleId": 1638832,
        "preferredName": "NM_006493.4(CLN5):c.153C>G (p.Arg51=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1609319",
        "RCV": [
          "RCV002155221"
        ],
        "variationId": 1609319
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.77566386C>G?assembly=hg19",
        "id": "chr13:g.77566386C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.76992251C>G?assembly=hg38",
        "id": "chr13:g.76992251C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/909356586",
        "rs": 909356586
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "G",
          "end": 76992251,
          "referenceAllele": "C",
          "start": 76992250
        }
      ],
      "hgvs": [
        "NC_000013.11:g.76992251C>G",
        "CM000675.2:g.76992251C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000061"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "G",
          "end": 77566386,
          "referenceAllele": "C",
          "start": 77566385
        }
      ],
      "hgvs": [
        "NC_000013.10:g.77566386C>G",
        "CM000675.1:g.77566386C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000037"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "G",
          "end": 76464387,
          "referenceAllele": "C",
          "start": 76464386
        }
      ],
      "hgvs": [
        "NC_000013.9:g.76464387C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000013"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5328,
          "referenceAllele": "C",
          "start": 5327
        }
      ],
      "hgvs": [
        "NG_009064.1:g.5328C>G",
        "LRG_692:g.5328C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001406"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 171,
          "referenceAllele": "C",
          "start": 170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "ENST00000377453.9:c.153C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000366673.5:p.Arg51="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751919",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000377453.9:c.153C>G"
          },
          "RefSeq": {
            "hgvs": "NM_006493.4:c.153C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000366673.5:p.Arg51="
          },
          "RefSeq": {
            "hgvs": "NP_006484.2:p.Arg51="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 193,
          "referenceAllele": "C",
          "start": 192
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "ENST00000485938.4:c.153C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482959.3:p.Arg51="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757521"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 161,
          "referenceAllele": "C",
          "start": 160
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "ENST00000616833.6:c.153C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479547.3:p.Arg51="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762081"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 154,
          "referenceAllele": "C",
          "start": 153
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "ENST00000635905.1:n.154C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS762724"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 92,
          "referenceAllele": "C",
          "start": 91
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "ENST00000635915.1:c.92C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS762732"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 163,
          "referenceAllele": "C",
          "start": 162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "ENST00000635989.1:n.163C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS762788"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1592,
          "referenceAllele": "C",
          "start": 1591
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "ENST00000636183.2:c.153C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490181.2:p.Arg51="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762933"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 156,
          "referenceAllele": "C",
          "start": 155
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "ENST00000636525.2:c.153C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490078.2:p.Arg51="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763182"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 154,
          "referenceAllele": "C",
          "start": 153
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "ENST00000636767.2:c.153C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489855.2:p.Arg51="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763364"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 208,
          "referenceAllele": "C",
          "start": 207
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "ENST00000636780.2:c.153C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489809.2:p.Arg51="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763375"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 165,
          "referenceAllele": "C",
          "start": 164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "ENST00000637397.2:c.153C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490422.2:p.Arg51="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763836"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 174,
          "referenceAllele": "C",
          "start": 173
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "ENST00000637537.2:c.153C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489711.2:p.Arg51="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763931"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 174,
          "referenceAllele": "C",
          "start": 173
        }
      ],
      "hgvs": [
        "ENST00000638147.2:c.153C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490953.2:p.Arg51="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764377"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1592,
          "referenceAllele": "C",
          "start": 1591
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "ENST00000377453.7:c.300C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000366673.3:p.Arg100="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271604"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 136,
          "referenceAllele": "C",
          "start": 135
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "ENST00000485938.2:c.136C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS324853"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 168,
          "referenceAllele": "C",
          "start": 167
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "ENST00000616833.4:c.153C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479547.1:p.Arg51="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403223"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 328,
          "referenceAllele": "C",
          "start": 327
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "NM_006493.2:c.300C>G",
        "LRG_692t1:c.300C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_006484.1:p.Arg100="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031503"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 315,
          "referenceAllele": "C",
          "start": 314
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "XM_011534917.1:c.300C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533219.1:p.Arg100="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101928"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828215179",
      "coordinates": [
        {
          "allele": "G",
          "end": 171,
          "referenceAllele": "C",
          "start": 170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "NM_001366624.1:c.153C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001353553.1:p.Arg51="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524748"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829667352",
      "coordinates": [
        {
          "allele": "G",
          "end": 171,
          "referenceAllele": "C",
          "start": 170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "NM_006493.3:c.153C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_006484.2:p.Arg51="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525406"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828215179",
      "coordinates": [
        {
          "allele": "G",
          "end": 171,
          "referenceAllele": "C",
          "start": 170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "NM_001366624.2:c.153C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001353553.1:p.Arg51="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691217"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829667352",
      "coordinates": [
        {
          "allele": "G",
          "end": 171,
          "referenceAllele": "C",
          "start": 170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "NM_006493.4:c.153C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_006484.2:p.Arg51="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696728",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000377453.9:c.153C>G"
          },
          "RefSeq": {
            "hgvs": "NM_006493.4:c.153C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000366673.5:p.Arg51="
          },
          "RefSeq": {
            "hgvs": "NP_006484.2:p.Arg51="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}