{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA392972143",
  "communityStandardTitle": [
    "NM_017882.3(CLN6):c.722T>C (p.Met241Thr)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=426118[alleleid]",
        "alleleId": 426118,
        "preferredName": "NM_017882.3(CLN6):c.722T>C (p.Met241Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/431958",
        "RCV": [
          "RCV000498748",
          "RCV001203261"
        ],
        "variationId": 431958
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.68500692A>G?assembly=hg19",
        "id": "chr15:g.68500692A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.68208354A>G?assembly=hg38",
        "id": "chr15:g.68208354A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1555438255",
        "rs": 1555438255
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "G",
          "end": 68208354,
          "referenceAllele": "A",
          "start": 68208353
        }
      ],
      "hgvs": [
        "NC_000015.10:g.68208354A>G",
        "CM000677.2:g.68208354A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "G",
          "end": 68500692,
          "referenceAllele": "A",
          "start": 68500691
        }
      ],
      "hgvs": [
        "NC_000015.9:g.68500692A>G",
        "CM000677.1:g.68500692A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "G",
          "end": 66287746,
          "referenceAllele": "A",
          "start": 66287745
        }
      ],
      "hgvs": [
        "NC_000015.8:g.66287746A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 53858,
          "referenceAllele": "T",
          "start": 53857
        }
      ],
      "hgvs": [
        "NG_008764.2:g.53858T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001204"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 866,
          "referenceAllele": "T",
          "start": 865
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000249806.11:c.722T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000249806.5:p.Met241Thr",
        "hgvsWellDefined": "ENSP00000249806.5:p.Met241Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741416",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000249806.11:c.722T>C"
          },
          "RefSeq": {
            "hgvs": "NM_017882.3:c.722T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000249806.5:p.Met241Thr"
          },
          "RefSeq": {
            "hgvs": "NP_060352.1:p.Met241Thr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 217,
          "endIntronDirection": "-",
          "endIntronOffset": 10725,
          "referenceAllele": "T",
          "start": 217,
          "startIntronDirection": "-",
          "startIntronOffset": 10726
        }
      ],
      "hgvs": [
        "ENST00000562767.2:c.84-10726T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000456336.1:n.84-10726T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760365"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 351,
          "referenceAllele": "T",
          "start": 350
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000565471.6:c.263T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457384.1:p.Met88Thr",
        "hgvsWellDefined": "ENSP00000457384.1:p.Met88Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760470"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 940,
          "referenceAllele": "T",
          "start": 939
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000635747.1:c.*625T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490627.1:n.*625T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762611"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 848,
          "referenceAllele": "T",
          "start": 847
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000636212.1:c.*392T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489851.1:n.*392T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762953"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1824,
          "referenceAllele": "T",
          "start": 1823
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000636674.1:n.1824T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763299"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2250,
          "referenceAllele": "T",
          "start": 2249
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000636964.1:n.2250T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763510"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 291,
          "endIntronDirection": "+",
          "endIntronOffset": 10182,
          "referenceAllele": "T",
          "start": 291,
          "startIntronDirection": "+",
          "startIntronOffset": 10181
        }
      ],
      "hgvs": [
        "ENST00000637054.1:c.198+10182T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490807.1:n.198+10182T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763576"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 691,
          "referenceAllele": "T",
          "start": 690
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000637329.1:c.691T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763787"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 700,
          "referenceAllele": "T",
          "start": 699
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000637450.1:c.*376T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490204.1:n.*376T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763869"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 527,
          "referenceAllele": "T",
          "start": 526
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000637494.1:c.434T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490057.1:p.Met145Thr",
        "hgvsWellDefined": "ENSP00000490057.1:p.Met145Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763900"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 742,
          "referenceAllele": "T",
          "start": 741
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000637667.1:c.623T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489843.1:p.Met208Thr",
        "hgvsWellDefined": "ENSP00000489843.1:p.Met208Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764027"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 547,
          "referenceAllele": "T",
          "start": 546
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000637823.1:c.547T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764135"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 307,
          "endIntronDirection": "+",
          "endIntronOffset": 10182,
          "referenceAllele": "T",
          "start": 307,
          "startIntronDirection": "+",
          "startIntronOffset": 10181
        }
      ],
      "hgvs": [
        "ENST00000637888.1:c.198+10182T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490546.1:n.198+10182T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764184"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 999,
          "referenceAllele": "T",
          "start": 998
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000638076.1:c.*325T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490373.1:n.*325T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764323"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 365,
          "referenceAllele": "T",
          "start": 364
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000638144.1:n.365T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764375"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 38,
          "endIntronDirection": "-",
          "endIntronOffset": 8672,
          "referenceAllele": "T",
          "start": 38,
          "startIntronDirection": "-",
          "startIntronOffset": 8673
        }
      ],
      "hgvs": [
        "ENST00000646164.1:c.39-8673T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768734"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 880,
          "referenceAllele": "T",
          "start": 879
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000249806.9:c.722T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000249806.5:p.Met241Thr",
        "hgvsWellDefined": "ENSP00000249806.5:p.Met241Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249635"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1056,
          "referenceAllele": "T",
          "start": 1055
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000538696.5:c.818T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000445770.1:p.Met273Thr",
        "hgvsWellDefined": "ENSP00000445770.1:p.Met273Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS361453"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 217,
          "endIntronDirection": "-",
          "endIntronOffset": 10725,
          "referenceAllele": "T",
          "start": 217,
          "startIntronDirection": "-",
          "startIntronOffset": 10726
        }
      ],
      "hgvs": [
        "ENST00000562767.1:c.84-10726T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000456336.1:n.84-10726T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS376995"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 873,
          "referenceAllele": "T",
          "start": 872
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000564752.1:c.*106T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457822.1:n.*106T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS378300"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 350,
          "referenceAllele": "T",
          "start": 349
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000565471.5:c.263T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457384.1:p.Met88Thr",
        "hgvsWellDefined": "ENSP00000457384.1:p.Met88Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS378781"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 667,
          "referenceAllele": "T",
          "start": 666
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000566347.5:c.533T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457783.1:p.Met178Thr",
        "hgvsWellDefined": "ENSP00000457783.1:p.Met178Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS379375"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 524,
          "referenceAllele": "T",
          "start": 523
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000567060.5:c.*120T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454818.1:n.*120T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS379869"
    },
    {
      "@id": "http://reg.genome.network/allele/PA102180",
      "coordinates": [
        {
          "allele": "C",
          "end": 880,
          "referenceAllele": "T",
          "start": 879
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "NM_017882.2:c.722T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_060352.1:p.Met241Thr",
        "hgvsWellDefined": "NP_060352.1:p.Met241Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS035274"
    },
    {
      "@id": "http://reg.genome.network/allele/PA102180",
      "coordinates": [
        {
          "allele": "C",
          "end": 866,
          "referenceAllele": "T",
          "start": 865
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "NM_017882.3:c.722T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_060352.1:p.Met241Thr",
        "hgvsWellDefined": "NP_060352.1:p.Met241Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS669413",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000249806.11:c.722T>C"
          },
          "RefSeq": {
            "hgvs": "NM_017882.3:c.722T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000249806.5:p.Met241Thr"
          },
          "RefSeq": {
            "hgvs": "NP_060352.1:p.Met241Thr"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}