{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA7007200",
  "communityStandardTitle": [
    "NM_006493.4(CLN5):c.420A>G (p.Gln140=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=936489[alleleid]",
        "alleleId": 936489,
        "preferredName": "NM_006493.4(CLN5):c.420A>G (p.Gln140=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/934097",
        "RCV": [
          "RCV001202432",
          "RCV002491605"
        ],
        "variationId": 934097
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/13-77570117-A-G",
        "id": "13-77570117-A-G",
        "variant": "13:77570117 A / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.77570117A>G?assembly=hg19",
        "id": "chr13:g.77570117A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.76995982A>G?assembly=hg38",
        "id": "chr13:g.76995982A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/753732321",
        "rs": 753732321
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-77570117-A-G?dataset=gnomad_r2_1",
        "id": "13-77570117-A-G",
        "variant": "13:77570117 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-76995982-A-G?dataset=gnomad_r3",
        "id": "13-76995982-A-G",
        "variant": "13:76995982 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-76995982-A-G?dataset=gnomad_r4",
        "id": "13-76995982-A-G",
        "variant": "13:76995982 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "G",
          "end": 76995982,
          "referenceAllele": "A",
          "start": 76995981
        }
      ],
      "hgvs": [
        "NC_000013.11:g.76995982A>G",
        "CM000675.2:g.76995982A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000061"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "G",
          "end": 77570117,
          "referenceAllele": "A",
          "start": 77570116
        }
      ],
      "hgvs": [
        "NC_000013.10:g.77570117A>G",
        "CM000675.1:g.77570117A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000037"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "G",
          "end": 76468118,
          "referenceAllele": "A",
          "start": 76468117
        }
      ],
      "hgvs": [
        "NC_000013.9:g.76468118A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000013"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9059,
          "referenceAllele": "A",
          "start": 9058
        }
      ],
      "hgvs": [
        "NG_009064.1:g.9059A>G",
        "LRG_692:g.9059A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001406"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 438,
          "referenceAllele": "A",
          "start": 437
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "ENST00000377453.9:c.420A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000366673.5:p.Gln140="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751919",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000377453.9:c.420A>G"
          },
          "RefSeq": {
            "hgvs": "NM_006493.4:c.420A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000366673.5:p.Gln140="
          },
          "RefSeq": {
            "hgvs": "NP_006484.2:p.Gln140="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 460,
          "referenceAllele": "A",
          "start": 459
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "ENST00000485938.4:c.420A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482959.3:p.Gln140="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757521"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 428,
          "referenceAllele": "A",
          "start": 427
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "ENST00000616833.6:c.420A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479547.3:p.Gln140="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762081"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 29,
          "referenceAllele": "A",
          "start": 28
        }
      ],
      "hgvs": [
        "ENST00000635838.1:c.29A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS762675"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 421,
          "referenceAllele": "A",
          "start": 420
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "ENST00000635905.1:n.421A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS762724"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 418,
          "referenceAllele": "A",
          "start": 417
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "ENST00000635915.1:c.418A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS762732"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 487,
          "referenceAllele": "A",
          "start": 486
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "ENST00000635989.1:n.487A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS762788"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1859,
          "referenceAllele": "A",
          "start": 1858
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "ENST00000636183.2:c.420A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490181.2:p.Gln140="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762933"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1932,
          "referenceAllele": "A",
          "start": 1931
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "ENST00000636520.1:n.1932A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763177"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 423,
          "referenceAllele": "A",
          "start": 422
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "ENST00000636525.2:c.420A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490078.2:p.Gln140="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763182"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 366,
          "referenceAllele": "A",
          "start": 365
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "ENST00000636602.1:n.366A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763242"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 772,
          "referenceAllele": "A",
          "start": 771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "ENST00000636681.1:c.*111A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489922.1:n.*111A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763305"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 256,
          "referenceAllele": "A",
          "start": 255
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "ENST00000636705.1:c.256A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763321"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 421,
          "referenceAllele": "A",
          "start": 420
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "ENST00000636767.2:c.420A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489855.2:p.Gln140="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763364"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 475,
          "referenceAllele": "A",
          "start": 474
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "ENST00000636780.2:c.420A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489809.2:p.Gln140="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763375"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 68,
          "referenceAllele": "A",
          "start": 67
        }
      ],
      "hgvs": [
        "ENST00000637192.1:c.68A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763681"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 746,
          "referenceAllele": "A",
          "start": 745
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "ENST00000637278.1:n.746A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763748"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 432,
          "referenceAllele": "A",
          "start": 431
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "ENST00000637397.2:c.420A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490422.2:p.Gln140="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763836"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 441,
          "referenceAllele": "A",
          "start": 440
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "ENST00000637537.2:c.420A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489711.2:p.Gln140="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763931"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 24,
          "referenceAllele": "A",
          "start": 23
        }
      ],
      "hgvs": [
        "ENST00000638101.1:c.24A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490535.1:p.Gln8="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764342"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 441,
          "referenceAllele": "A",
          "start": 440
        }
      ],
      "hgvs": [
        "ENST00000638147.2:c.420A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490953.2:p.Gln140="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764377"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1859,
          "referenceAllele": "A",
          "start": 1858
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "ENST00000377453.7:c.567A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000366673.3:p.Gln189="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271604"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 173,
          "endIntronDirection": "-",
          "endIntronOffset": 3030,
          "referenceAllele": "T",
          "start": 173,
          "startIntronDirection": "-",
          "startIntronOffset": 3031
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013599",
      "geneNCBI_id": 26224,
      "geneSymbol": "FBXL3",
      "hgvs": [
        "ENST00000485797.2:n.174-3031T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS324744"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 403,
          "referenceAllele": "A",
          "start": 402
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "ENST00000485938.2:c.403A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS324853"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 435,
          "referenceAllele": "A",
          "start": 434
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "ENST00000616833.4:c.420A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479547.1:p.Gln140="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403223"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 595,
          "referenceAllele": "A",
          "start": 594
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "NM_006493.2:c.567A>G",
        "LRG_692t1:c.567A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_006484.1:p.Gln189="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031503"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 582,
          "referenceAllele": "A",
          "start": 581
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "XM_011534917.1:c.567A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533219.1:p.Gln189="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101928"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828215273",
      "coordinates": [
        {
          "allele": "G",
          "end": 438,
          "referenceAllele": "A",
          "start": 437
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "NM_001366624.1:c.420A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001353553.1:p.Gln140="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524748"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829667436",
      "coordinates": [
        {
          "allele": "G",
          "end": 438,
          "referenceAllele": "A",
          "start": 437
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "NM_006493.3:c.420A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_006484.2:p.Gln140="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525406"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 982,
          "endIntronDirection": "-",
          "endIntronOffset": 3030,
          "referenceAllele": "T",
          "start": 982,
          "startIntronDirection": "-",
          "startIntronOffset": 3031
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013599",
      "geneNCBI_id": 26224,
      "geneSymbol": "FBXL3",
      "hgvs": [
        "XM_017020538.2:c.644-3031T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016876027.1:n.644-3031T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572004"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828215273",
      "coordinates": [
        {
          "allele": "G",
          "end": 438,
          "referenceAllele": "A",
          "start": 437
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "NM_001366624.2:c.420A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001353553.1:p.Gln140="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691217"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829667436",
      "coordinates": [
        {
          "allele": "G",
          "end": 438,
          "referenceAllele": "A",
          "start": 437
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "NM_006493.4:c.420A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_006484.2:p.Gln140="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696728",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000377453.9:c.420A>G"
          },
          "RefSeq": {
            "hgvs": "NM_006493.4:c.420A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000366673.5:p.Gln140="
          },
          "RefSeq": {
            "hgvs": "NP_006484.2:p.Gln140="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}