{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA369954335",
  "communityStandardTitle": [
    "NM_018941.4(CLN8):c.792C>A (p.Asn264Lys)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.1728664C>A?assembly=hg19",
        "id": "chr8:g.1728664C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.1780498C>A?assembly=hg38",
        "id": "chr8:g.1780498C>A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 1780498,
          "referenceAllele": "C",
          "start": 1780497
        }
      ],
      "hgvs": [
        "NC_000008.11:g.1780498C>A",
        "CM000670.2:g.1780498C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 1728664,
          "referenceAllele": "C",
          "start": 1728663
        }
      ],
      "hgvs": [
        "NC_000008.10:g.1728664C>A",
        "CM000670.1:g.1728664C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 1716071,
          "referenceAllele": "C",
          "start": 1716070
        }
      ],
      "hgvs": [
        "NC_000008.9:g.1716071C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 29721,
          "referenceAllele": "C",
          "start": 29720
        }
      ],
      "hgvs": [
        "NG_008656.2:g.29721C>A",
        "LRG_691:g.29721C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001149"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1012,
          "referenceAllele": "C",
          "start": 1011
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002079",
      "geneNCBI_id": 2055,
      "geneSymbol": "CLN8",
      "hgvs": [
        "ENST00000331222.6:c.792C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000328182.4:p.Asn264Lys",
        "hgvsWellDefined": "ENSP00000328182.4:p.Asn264Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747132",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000331222.6:c.792C>A"
          },
          "RefSeq": {
            "hgvs": "NM_018941.4:c.792C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000328182.4:p.Asn264Lys"
          },
          "RefSeq": {
            "hgvs": "NP_061764.2:p.Asn264Lys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 967,
          "referenceAllele": "C",
          "start": 966
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002079",
      "geneNCBI_id": 2055,
      "geneSymbol": "CLN8",
      "hgvs": [
        "ENST00000519254.2:c.792C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490016.1:p.Asn264Lys",
        "hgvsWellDefined": "ENSP00000490016.1:p.Asn264Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758642"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1031,
          "referenceAllele": "C",
          "start": 1030
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002079",
      "geneNCBI_id": 2055,
      "geneSymbol": "CLN8",
      "hgvs": [
        "ENST00000520991.3:c.*203C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000487905.2:n.*203C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758710"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1080,
          "referenceAllele": "C",
          "start": 1079
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002079",
      "geneNCBI_id": 2055,
      "geneSymbol": "CLN8",
      "hgvs": [
        "ENST00000635751.1:c.792C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489694.1:p.Asn264Lys",
        "hgvsWellDefined": "ENSP00000489694.1:p.Asn264Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762614"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 496,
          "endIntronDirection": "+",
          "endIntronOffset": 8901,
          "referenceAllele": "C",
          "start": 496,
          "startIntronDirection": "+",
          "startIntronOffset": 8900
        }
      ],
      "hgvs": [
        "ENST00000635773.1:c.496+8901C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS762632"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 720,
          "endIntronDirection": "+",
          "endIntronOffset": 8901,
          "referenceAllele": "C",
          "start": 720,
          "startIntronDirection": "+",
          "startIntronOffset": 8900
        }
      ],
      "hgvs": [
        "ENST00000635855.1:c.543+8901C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489726.1:n.543+8901C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762685"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 986,
          "referenceAllele": "C",
          "start": 985
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002079",
      "geneNCBI_id": 2055,
      "geneSymbol": "CLN8",
      "hgvs": [
        "ENST00000635970.1:c.792C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490439.1:p.Asn264Lys",
        "hgvsWellDefined": "ENSP00000490439.1:p.Asn264Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762775"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 343,
          "endIntronDirection": "+",
          "endIntronOffset": 8901,
          "referenceAllele": "C",
          "start": 343,
          "startIntronDirection": "+",
          "startIntronOffset": 8900
        }
      ],
      "hgvs": [
        "ENST00000636175.1:c.343+8901C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS762926"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 752,
          "endIntronDirection": "+",
          "endIntronOffset": 8901,
          "referenceAllele": "C",
          "start": 752,
          "startIntronDirection": "+",
          "startIntronOffset": 8900
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002079",
      "geneNCBI_id": 2055,
      "geneSymbol": "CLN8",
      "hgvs": [
        "ENST00000636934.1:c.543+8901C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490218.1:n.543+8901C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763487"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1142,
          "referenceAllele": "C",
          "start": 1141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002079",
      "geneNCBI_id": 2055,
      "geneSymbol": "CLN8",
      "hgvs": [
        "ENST00000637083.1:c.792C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490235.1:p.Asn264Lys",
        "hgvsWellDefined": "ENSP00000490235.1:p.Asn264Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763598"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1041,
          "referenceAllele": "C",
          "start": 1040
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002079",
      "geneNCBI_id": 2055,
      "geneSymbol": "CLN8",
      "hgvs": [
        "ENST00000637156.1:c.792C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490458.1:p.Asn264Lys",
        "hgvsWellDefined": "ENSP00000490458.1:p.Asn264Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763651"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1039,
          "referenceAllele": "C",
          "start": 1038
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002079",
      "geneNCBI_id": 2055,
      "geneSymbol": "CLN8",
      "hgvs": [
        "ENST00000331222.4:c.792C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000328182.4:p.Asn264Lys",
        "hgvsWellDefined": "ENSP00000328182.4:p.Asn264Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259362"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 311,
          "referenceAllele": "C",
          "start": 310
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002079",
      "geneNCBI_id": 2055,
      "geneSymbol": "CLN8",
      "hgvs": [
        "ENST00000519254.1:n.311C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS346530"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 567,
          "referenceAllele": "C",
          "start": 566
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002079",
      "geneNCBI_id": 2055,
      "geneSymbol": "CLN8",
      "hgvs": [
        "ENST00000523237.1:n.567C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS349665"
    },
    {
      "@id": "http://reg.genome.network/allele/PA267598",
      "coordinates": [
        {
          "allele": "A",
          "end": 1097,
          "referenceAllele": "C",
          "start": 1096
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002079",
      "geneNCBI_id": 2055,
      "geneSymbol": "CLN8",
      "hgvs": [
        "NM_018941.3:c.792C>A",
        "LRG_691t1:c.792C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_061764.2:p.Asn264Lys",
        "hgvsWellDefined": "NP_061764.2:p.Asn264Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS035953"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1041,
          "referenceAllele": "C",
          "start": 1040
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002079",
      "geneNCBI_id": 2055,
      "geneSymbol": "CLN8",
      "hgvs": [
        "XM_005266021.3:c.792C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266078.1:p.Asn264Lys",
        "hgvsWellDefined": "XP_005266078.1:p.Asn264Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064891"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1220,
          "referenceAllele": "C",
          "start": 1219
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002079",
      "geneNCBI_id": 2055,
      "geneSymbol": "CLN8",
      "hgvs": [
        "XM_005266022.1:c.792C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266079.1:p.Asn264Lys",
        "hgvsWellDefined": "XP_005266079.1:p.Asn264Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064892"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 938,
          "referenceAllele": "C",
          "start": 937
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002079",
      "geneNCBI_id": 2055,
      "geneSymbol": "CLN8",
      "hgvs": [
        "XM_005266023.1:c.792C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266080.1:p.Asn264Lys",
        "hgvsWellDefined": "XP_005266080.1:p.Asn264Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064893"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1042,
          "referenceAllele": "C",
          "start": 1041
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002079",
      "geneNCBI_id": 2055,
      "geneSymbol": "CLN8",
      "hgvs": [
        "XM_011534745.1:c.792C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533047.1:p.Asn264Lys",
        "hgvsWellDefined": "XP_011533047.1:p.Asn264Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101757"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 938,
          "referenceAllele": "C",
          "start": 937
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002079",
      "geneNCBI_id": 2055,
      "geneSymbol": "CLN8",
      "hgvs": [
        "XM_011534746.1:c.792C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533048.1:p.Asn264Lys",
        "hgvsWellDefined": "XP_011533048.1:p.Asn264Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101758"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 951,
          "referenceAllele": "C",
          "start": 950
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002079",
      "geneNCBI_id": 2055,
      "geneSymbol": "CLN8",
      "hgvs": [
        "XM_005266021.4:c.792C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266078.1:p.Asn264Lys",
        "hgvsWellDefined": "XP_005266078.1:p.Asn264Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536158"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 939,
          "referenceAllele": "C",
          "start": 938
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002079",
      "geneNCBI_id": 2055,
      "geneSymbol": "CLN8",
      "hgvs": [
        "XM_011534746.2:c.792C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533048.1:p.Asn264Lys",
        "hgvsWellDefined": "XP_011533048.1:p.Asn264Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551739"
    },
    {
      "@id": "http://reg.genome.network/allele/PA267598",
      "coordinates": [
        {
          "allele": "A",
          "end": 1012,
          "referenceAllele": "C",
          "start": 1011
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002079",
      "geneNCBI_id": 2055,
      "geneSymbol": "CLN8",
      "hgvs": [
        "NM_018941.4:c.792C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_061764.2:p.Asn264Lys",
        "hgvsWellDefined": "NP_061764.2:p.Asn264Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698107",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000331222.6:c.792C>A"
          },
          "RefSeq": {
            "hgvs": "NM_018941.4:c.792C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000328182.4:p.Asn264Lys"
          },
          "RefSeq": {
            "hgvs": "NP_061764.2:p.Asn264Lys"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}