{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA388308679",
  "communityStandardTitle": [
    "NM_006493.4(CLN5):c.361G>A (p.Gly121Arg)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2795138[alleleid]",
        "alleleId": 2795138,
        "preferredName": "NM_006493.4(CLN5):c.361G>A (p.Gly121Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2627622",
        "RCV": [
          "RCV003388912"
        ],
        "variationId": 2627622
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.77570058G>A?assembly=hg19",
        "id": "chr13:g.77570058G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.76995923G>A?assembly=hg38",
        "id": "chr13:g.76995923G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1309552809",
        "rs": 1309552809
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-77570058-G-A?dataset=gnomad_r2_1",
        "id": "13-77570058-G-A",
        "variant": "13:77570058 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-76995923-G-A?dataset=gnomad_r4",
        "id": "13-76995923-G-A",
        "variant": "13:76995923 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "A",
          "end": 76995923,
          "referenceAllele": "G",
          "start": 76995922
        }
      ],
      "hgvs": [
        "NC_000013.11:g.76995923G>A",
        "CM000675.2:g.76995923G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000061"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "A",
          "end": 77570058,
          "referenceAllele": "G",
          "start": 77570057
        }
      ],
      "hgvs": [
        "NC_000013.10:g.77570058G>A",
        "CM000675.1:g.77570058G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000037"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "A",
          "end": 76468059,
          "referenceAllele": "G",
          "start": 76468058
        }
      ],
      "hgvs": [
        "NC_000013.9:g.76468059G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000013"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9000,
          "referenceAllele": "G",
          "start": 8999
        }
      ],
      "hgvs": [
        "NG_009064.1:g.9000G>A",
        "LRG_692:g.9000G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001406"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 379,
          "referenceAllele": "G",
          "start": 378
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "ENST00000377453.9:c.361G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000366673.5:p.Gly121Arg",
        "hgvsWellDefined": "ENSP00000366673.5:p.Gly121Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751919",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000377453.9:c.361G>A"
          },
          "RefSeq": {
            "hgvs": "NM_006493.4:c.361G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000366673.5:p.Gly121Arg"
          },
          "RefSeq": {
            "hgvs": "NP_006484.2:p.Gly121Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 401,
          "referenceAllele": "G",
          "start": 400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "ENST00000485938.4:c.361G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482959.3:p.Gly121Arg",
        "hgvsWellDefined": "ENSP00000482959.3:p.Gly121Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757521"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 369,
          "referenceAllele": "G",
          "start": 368
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "ENST00000616833.6:c.361G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479547.3:p.Gly121Arg",
        "hgvsWellDefined": "ENSP00000479547.3:p.Gly121Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762081"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 362,
          "referenceAllele": "G",
          "start": 361
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "ENST00000635905.1:n.362G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS762724"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 359,
          "referenceAllele": "G",
          "start": 358
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "ENST00000635915.1:c.359G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS762732"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 428,
          "referenceAllele": "G",
          "start": 427
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "ENST00000635989.1:n.428G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS762788"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1800,
          "referenceAllele": "G",
          "start": 1799
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "ENST00000636183.2:c.361G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490181.2:p.Gly121Arg",
        "hgvsWellDefined": "ENSP00000490181.2:p.Gly121Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762933"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1873,
          "referenceAllele": "G",
          "start": 1872
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "ENST00000636520.1:n.1873G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763177"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 364,
          "referenceAllele": "G",
          "start": 363
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "ENST00000636525.2:c.361G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490078.2:p.Gly121Arg",
        "hgvsWellDefined": "ENSP00000490078.2:p.Gly121Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763182"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 307,
          "referenceAllele": "G",
          "start": 306
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "ENST00000636602.1:n.307G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763242"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 713,
          "referenceAllele": "G",
          "start": 712
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "ENST00000636681.1:c.*52G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489922.1:n.*52G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763305"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 197,
          "referenceAllele": "G",
          "start": 196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "ENST00000636705.1:c.197G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763321"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 362,
          "referenceAllele": "G",
          "start": 361
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "ENST00000636767.2:c.361G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489855.2:p.Gly121Arg",
        "hgvsWellDefined": "ENSP00000489855.2:p.Gly121Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763364"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 416,
          "referenceAllele": "G",
          "start": 415
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "ENST00000636780.2:c.361G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489809.2:p.Gly121Arg",
        "hgvsWellDefined": "ENSP00000489809.2:p.Gly121Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763375"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9,
          "referenceAllele": "G",
          "start": 8
        }
      ],
      "hgvs": [
        "ENST00000637192.1:c.9G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763681"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 687,
          "referenceAllele": "G",
          "start": 686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "ENST00000637278.1:n.687G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763748"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 373,
          "referenceAllele": "G",
          "start": 372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "ENST00000637397.2:c.361G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490422.2:p.Gly121Arg",
        "hgvsWellDefined": "ENSP00000490422.2:p.Gly121Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763836"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 382,
          "referenceAllele": "G",
          "start": 381
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "ENST00000637537.2:c.361G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489711.2:p.Gly121Arg",
        "hgvsWellDefined": "ENSP00000489711.2:p.Gly121Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763931"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 382,
          "referenceAllele": "G",
          "start": 381
        }
      ],
      "hgvs": [
        "ENST00000638147.2:c.361G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490953.2:p.Gly121Arg",
        "hgvsWellDefined": "ENSP00000490953.2:p.Gly121Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764377"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1800,
          "referenceAllele": "G",
          "start": 1799
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "ENST00000377453.7:c.508G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000366673.3:p.Gly170Arg",
        "hgvsWellDefined": "ENSP00000366673.3:p.Gly170Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271604"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 173,
          "endIntronDirection": "-",
          "endIntronOffset": 2971,
          "referenceAllele": "C",
          "start": 173,
          "startIntronDirection": "-",
          "startIntronOffset": 2972
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013599",
      "geneNCBI_id": 26224,
      "geneSymbol": "FBXL3",
      "hgvs": [
        "ENST00000485797.2:n.174-2972C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS324744"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 344,
          "referenceAllele": "G",
          "start": 343
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "ENST00000485938.2:c.344G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS324853"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 376,
          "referenceAllele": "G",
          "start": 375
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "ENST00000616833.4:c.361G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479547.1:p.Gly121Arg",
        "hgvsWellDefined": "ENSP00000479547.1:p.Gly121Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403223"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741928181",
      "coordinates": [
        {
          "allele": "A",
          "end": 536,
          "referenceAllele": "G",
          "start": 535
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "NM_006493.2:c.508G>A",
        "LRG_692t1:c.508G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_006484.1:p.Gly170Arg",
        "hgvsWellDefined": "NP_006484.1:p.Gly170Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031503"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 523,
          "referenceAllele": "G",
          "start": 522
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "XM_011534917.1:c.508G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533219.1:p.Gly170Arg",
        "hgvsWellDefined": "XP_011533219.1:p.Gly170Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101928"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828215254",
      "coordinates": [
        {
          "allele": "A",
          "end": 379,
          "referenceAllele": "G",
          "start": 378
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "NM_001366624.1:c.361G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001353553.1:p.Gly121Arg",
        "hgvsWellDefined": "NP_001353553.1:p.Gly121Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524748"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829667417",
      "coordinates": [
        {
          "allele": "A",
          "end": 379,
          "referenceAllele": "G",
          "start": 378
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "NM_006493.3:c.361G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_006484.2:p.Gly121Arg",
        "hgvsWellDefined": "NP_006484.2:p.Gly121Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525406"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 982,
          "endIntronDirection": "-",
          "endIntronOffset": 2971,
          "referenceAllele": "C",
          "start": 982,
          "startIntronDirection": "-",
          "startIntronOffset": 2972
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013599",
      "geneNCBI_id": 26224,
      "geneSymbol": "FBXL3",
      "hgvs": [
        "XM_017020538.2:c.644-2972C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016876027.1:n.644-2972C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572004"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828215254",
      "coordinates": [
        {
          "allele": "A",
          "end": 379,
          "referenceAllele": "G",
          "start": 378
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "NM_001366624.2:c.361G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001353553.1:p.Gly121Arg",
        "hgvsWellDefined": "NP_001353553.1:p.Gly121Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691217"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829667417",
      "coordinates": [
        {
          "allele": "A",
          "end": 379,
          "referenceAllele": "G",
          "start": 378
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "NM_006493.4:c.361G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_006484.2:p.Gly121Arg",
        "hgvsWellDefined": "NP_006484.2:p.Gly121Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696728",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000377453.9:c.361G>A"
          },
          "RefSeq": {
            "hgvs": "NM_006493.4:c.361G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000366673.5:p.Gly121Arg"
          },
          "RefSeq": {
            "hgvs": "NP_006484.2:p.Gly121Arg"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}