{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA272382848",
  "communityStandardTitle": [
    "NM_017882.3(CLN6):c.723G>T (p.Met241Ile)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1017967[alleleid]",
        "alleleId": 1017967,
        "preferredName": "NM_017882.3(CLN6):c.723G>T (p.Met241Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1029493",
        "RCV": [
          "RCV001330791"
        ],
        "variationId": 1029493
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.68500691C>A?assembly=hg19",
        "id": "chr15:g.68500691C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.68208353C>A?assembly=hg38",
        "id": "chr15:g.68208353C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/149262877",
        "rs": 149262877
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-68500691-C-A?dataset=gnomad_r2_1",
        "id": "15-68500691-C-A",
        "variant": "15:68500691 C / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-68208353-C-A?dataset=gnomad_r3",
        "id": "15-68208353-C-A",
        "variant": "15:68208353 C / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-68208353-C-A?dataset=gnomad_r4",
        "id": "15-68208353-C-A",
        "variant": "15:68208353 C / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 68208353,
          "referenceAllele": "C",
          "start": 68208352
        }
      ],
      "hgvs": [
        "NC_000015.10:g.68208353C>A",
        "CM000677.2:g.68208353C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 68500691,
          "referenceAllele": "C",
          "start": 68500690
        }
      ],
      "hgvs": [
        "NC_000015.9:g.68500691C>A",
        "CM000677.1:g.68500691C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 66287745,
          "referenceAllele": "C",
          "start": 66287744
        }
      ],
      "hgvs": [
        "NC_000015.8:g.66287745C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 53859,
          "referenceAllele": "G",
          "start": 53858
        }
      ],
      "hgvs": [
        "NG_008764.2:g.53859G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001204"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 867,
          "referenceAllele": "G",
          "start": 866
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000249806.11:c.723G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000249806.5:p.Met241Ile",
        "hgvsWellDefined": "ENSP00000249806.5:p.Met241Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741416",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000249806.11:c.723G>T"
          },
          "RefSeq": {
            "hgvs": "NM_017882.3:c.723G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000249806.5:p.Met241Ile"
          },
          "RefSeq": {
            "hgvs": "NP_060352.1:p.Met241Ile"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 217,
          "endIntronDirection": "-",
          "endIntronOffset": 10724,
          "referenceAllele": "G",
          "start": 217,
          "startIntronDirection": "-",
          "startIntronOffset": 10725
        }
      ],
      "hgvs": [
        "ENST00000562767.2:c.84-10725G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000456336.1:n.84-10725G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760365"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 352,
          "referenceAllele": "G",
          "start": 351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000565471.6:c.264G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457384.1:p.Met88Ile",
        "hgvsWellDefined": "ENSP00000457384.1:p.Met88Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760470"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 941,
          "referenceAllele": "G",
          "start": 940
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000635747.1:c.*626G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490627.1:n.*626G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762611"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 849,
          "referenceAllele": "G",
          "start": 848
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000636212.1:c.*393G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489851.1:n.*393G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762953"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1825,
          "referenceAllele": "G",
          "start": 1824
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000636674.1:n.1825G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763299"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2251,
          "referenceAllele": "G",
          "start": 2250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000636964.1:n.2251G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763510"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 291,
          "endIntronDirection": "+",
          "endIntronOffset": 10183,
          "referenceAllele": "G",
          "start": 291,
          "startIntronDirection": "+",
          "startIntronOffset": 10182
        }
      ],
      "hgvs": [
        "ENST00000637054.1:c.198+10183G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490807.1:n.198+10183G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763576"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 692,
          "referenceAllele": "G",
          "start": 691
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000637329.1:c.692G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763787"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 701,
          "referenceAllele": "G",
          "start": 700
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000637450.1:c.*377G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490204.1:n.*377G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763869"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 528,
          "referenceAllele": "G",
          "start": 527
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000637494.1:c.435G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490057.1:p.Met145Ile",
        "hgvsWellDefined": "ENSP00000490057.1:p.Met145Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763900"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 743,
          "referenceAllele": "G",
          "start": 742
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000637667.1:c.624G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489843.1:p.Met208Ile",
        "hgvsWellDefined": "ENSP00000489843.1:p.Met208Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764027"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 548,
          "referenceAllele": "G",
          "start": 547
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000637823.1:c.548G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764135"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 307,
          "endIntronDirection": "+",
          "endIntronOffset": 10183,
          "referenceAllele": "G",
          "start": 307,
          "startIntronDirection": "+",
          "startIntronOffset": 10182
        }
      ],
      "hgvs": [
        "ENST00000637888.1:c.198+10183G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490546.1:n.198+10183G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764184"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1000,
          "referenceAllele": "G",
          "start": 999
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000638076.1:c.*326G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490373.1:n.*326G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764323"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 366,
          "referenceAllele": "G",
          "start": 365
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000638144.1:n.366G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764375"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 38,
          "endIntronDirection": "-",
          "endIntronOffset": 8671,
          "referenceAllele": "G",
          "start": 38,
          "startIntronDirection": "-",
          "startIntronOffset": 8672
        }
      ],
      "hgvs": [
        "ENST00000646164.1:c.39-8672G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768734"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 881,
          "referenceAllele": "G",
          "start": 880
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000249806.9:c.723G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000249806.5:p.Met241Ile",
        "hgvsWellDefined": "ENSP00000249806.5:p.Met241Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249635"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1057,
          "referenceAllele": "G",
          "start": 1056
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000538696.5:c.819G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000445770.1:p.Met273Ile",
        "hgvsWellDefined": "ENSP00000445770.1:p.Met273Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS361453"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 217,
          "endIntronDirection": "-",
          "endIntronOffset": 10724,
          "referenceAllele": "G",
          "start": 217,
          "startIntronDirection": "-",
          "startIntronOffset": 10725
        }
      ],
      "hgvs": [
        "ENST00000562767.1:c.84-10725G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000456336.1:n.84-10725G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS376995"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 874,
          "referenceAllele": "G",
          "start": 873
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000564752.1:c.*107G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457822.1:n.*107G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS378300"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 351,
          "referenceAllele": "G",
          "start": 350
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000565471.5:c.264G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457384.1:p.Met88Ile",
        "hgvsWellDefined": "ENSP00000457384.1:p.Met88Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS378781"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 668,
          "referenceAllele": "G",
          "start": 667
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000566347.5:c.534G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457783.1:p.Met178Ile",
        "hgvsWellDefined": "ENSP00000457783.1:p.Met178Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS379375"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 525,
          "referenceAllele": "G",
          "start": 524
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "ENST00000567060.5:c.*121G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454818.1:n.*121G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS379869"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499283953",
      "coordinates": [
        {
          "allele": "T",
          "end": 881,
          "referenceAllele": "G",
          "start": 880
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "NM_017882.2:c.723G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_060352.1:p.Met241Ile",
        "hgvsWellDefined": "NP_060352.1:p.Met241Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS035274"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499283953",
      "coordinates": [
        {
          "allele": "T",
          "end": 867,
          "referenceAllele": "G",
          "start": 866
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002077",
      "geneNCBI_id": 54982,
      "geneSymbol": "CLN6",
      "hgvs": [
        "NM_017882.3:c.723G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_060352.1:p.Met241Ile",
        "hgvsWellDefined": "NP_060352.1:p.Met241Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS669413",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000249806.11:c.723G>T"
          },
          "RefSeq": {
            "hgvs": "NM_017882.3:c.723G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000249806.5:p.Met241Ile"
          },
          "RefSeq": {
            "hgvs": "NP_060352.1:p.Met241Ile"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}