{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA5813981",
  "communityStandardTitle": [
    "NM_001909.5(CTSD):c.972+9C>T"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=526496[alleleid]",
        "alleleId": 526496,
        "preferredName": "NM_001909.5(CTSD):c.972+9C>T"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/527761",
        "RCV": [
          "RCV000733126",
          "RCV001088576"
        ],
        "variationId": 527761
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/11-1775215-G-A",
        "id": "11-1775215-G-A",
        "variant": "11:1775215 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.1775215G>A?assembly=hg19",
        "id": "chr11:g.1775215G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.1753985G>A?assembly=hg38",
        "id": "chr11:g.1753985G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/746243061",
        "rs": 746243061
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-1775215-G-A?dataset=gnomad_r2_1",
        "id": "11-1775215-G-A",
        "variant": "11:1775215 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-1753985-G-A?dataset=gnomad_r3",
        "id": "11-1753985-G-A",
        "variant": "11:1753985 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-1753985-G-A?dataset=gnomad_r4",
        "id": "11-1753985-G-A",
        "variant": "11:1753985 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 1753985,
          "referenceAllele": "G",
          "start": 1753984
        }
      ],
      "hgvs": [
        "NC_000011.10:g.1753985G>A",
        "CM000673.2:g.1753985G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 1775215,
          "referenceAllele": "G",
          "start": 1775214
        }
      ],
      "hgvs": [
        "NC_000011.9:g.1775215G>A",
        "CM000673.1:g.1775215G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 1731791,
          "referenceAllele": "G",
          "start": 1731790
        }
      ],
      "hgvs": [
        "NC_000011.8:g.1731791G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 15008,
          "referenceAllele": "C",
          "start": 15007
        }
      ],
      "hgvs": [
        "NG_008655.1:g.15008C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001148"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1040,
          "endIntronDirection": "+",
          "endIntronOffset": 9,
          "referenceAllele": "C",
          "start": 1040,
          "startIntronDirection": "+",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002529",
      "geneNCBI_id": 1509,
      "geneSymbol": "CTSD",
      "hgvs": [
        "ENST00000236671.7:c.972+9C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000236671.2:n.972+9C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740984",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000236671.7:c.972+9C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001909.5:c.972+9C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000236671.2:n.972+9C>T"
          },
          "RefSeq": {
            "hgvs": "NP_001900.1:n.972+9C>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1175,
          "endIntronDirection": "+",
          "endIntronOffset": 9,
          "referenceAllele": "C",
          "start": 1175,
          "startIntronDirection": "+",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002529",
      "geneNCBI_id": 1509,
      "geneSymbol": "CTSD",
      "hgvs": [
        "ENST00000367196.4:c.867+9C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356164.4:n.867+9C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749955"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 397,
          "endIntronDirection": "+",
          "endIntronOffset": 9,
          "referenceAllele": "C",
          "start": 397,
          "startIntronDirection": "+",
          "startIntronOffset": 8
        }
      ],
      "hgvs": [
        "ENST00000427721.3:c.397+9C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS755193"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 958,
          "endIntronDirection": "+",
          "endIntronOffset": 9,
          "referenceAllele": "C",
          "start": 958,
          "startIntronDirection": "+",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002529",
      "geneNCBI_id": 1509,
      "geneSymbol": "CTSD",
      "hgvs": [
        "ENST00000429746.2:c.867+9C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000402586.2:n.867+9C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755290"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1040,
          "endIntronDirection": "+",
          "endIntronOffset": 9,
          "referenceAllele": "C",
          "start": 1040,
          "startIntronDirection": "+",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002529",
      "geneNCBI_id": 1509,
      "geneSymbol": "CTSD",
      "hgvs": [
        "ENST00000433655.6:c.*138+9C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000404902.1:n.*138+9C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755471"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1157,
          "endIntronDirection": "+",
          "endIntronOffset": 9,
          "referenceAllele": "C",
          "start": 1157,
          "startIntronDirection": "+",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002529",
      "geneNCBI_id": 1509,
      "geneSymbol": "CTSD",
      "hgvs": [
        "ENST00000438213.6:c.1089+9C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000415036.2:n.1089+9C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755690"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 597,
          "referenceAllele": "C",
          "start": 596
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002529",
      "geneNCBI_id": 1509,
      "geneSymbol": "CTSD",
      "hgvs": [
        "ENST00000497544.3:n.597C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757867"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1045,
          "endIntronDirection": "+",
          "endIntronOffset": 9,
          "referenceAllele": "C",
          "start": 1045,
          "startIntronDirection": "+",
          "startIntronOffset": 8
        }
      ],
      "hgvs": [
        "ENST00000636397.1:c.972+9C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489910.1:n.972+9C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763082"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1019,
          "endIntronDirection": "+",
          "endIntronOffset": 9,
          "referenceAllele": "C",
          "start": 1019,
          "startIntronDirection": "+",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002529",
      "geneNCBI_id": 1509,
      "geneSymbol": "CTSD",
      "hgvs": [
        "ENST00000636571.1:c.951+9C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490770.1:n.951+9C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763216"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1067,
          "endIntronDirection": "+",
          "endIntronOffset": 9,
          "referenceAllele": "C",
          "start": 1067,
          "startIntronDirection": "+",
          "startIntronOffset": 8
        }
      ],
      "hgvs": [
        "ENST00000636615.1:c.972+9C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490014.1:n.972+9C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763252"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1055,
          "endIntronDirection": "+",
          "endIntronOffset": 9,
          "referenceAllele": "C",
          "start": 1055,
          "startIntronDirection": "+",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002529",
      "geneNCBI_id": 1509,
      "geneSymbol": "CTSD",
      "hgvs": [
        "ENST00000636843.1:c.966+9C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490897.1:n.966+9C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763422"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 570,
          "endIntronDirection": "+",
          "endIntronOffset": 9,
          "referenceAllele": "C",
          "start": 570,
          "startIntronDirection": "+",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002529",
      "geneNCBI_id": 1509,
      "geneSymbol": "CTSD",
      "hgvs": [
        "ENST00000637158.1:n.570+9C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763652"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3400,
          "endIntronDirection": "+",
          "endIntronOffset": 9,
          "referenceAllele": "C",
          "start": 3400,
          "startIntronDirection": "+",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002529",
      "geneNCBI_id": 1509,
      "geneSymbol": "CTSD",
      "hgvs": [
        "ENST00000637381.2:n.3400+9C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763824"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1054,
          "endIntronDirection": "+",
          "endIntronOffset": 9,
          "referenceAllele": "C",
          "start": 1054,
          "startIntronDirection": "+",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002529",
      "geneNCBI_id": 1509,
      "geneSymbol": "CTSD",
      "hgvs": [
        "ENST00000637387.1:c.972+9C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490598.1:n.972+9C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763827"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1001,
          "endIntronDirection": "+",
          "endIntronOffset": 9,
          "referenceAllele": "C",
          "start": 1001,
          "startIntronDirection": "+",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002529",
      "geneNCBI_id": 1509,
      "geneSymbol": "CTSD",
      "hgvs": [
        "ENST00000637815.2:c.954+9C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490344.1:n.954+9C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764130"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1009,
          "endIntronDirection": "+",
          "endIntronOffset": 9,
          "referenceAllele": "C",
          "start": 1009,
          "startIntronDirection": "+",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002529",
      "geneNCBI_id": 1509,
      "geneSymbol": "CTSD",
      "hgvs": [
        "ENST00000637915.1:c.972+9C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490471.1:n.972+9C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764206"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 280,
          "endIntronDirection": "+",
          "endIntronOffset": 9,
          "referenceAllele": "C",
          "start": 280,
          "startIntronDirection": "+",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002529",
      "geneNCBI_id": 1509,
      "geneSymbol": "CTSD",
      "hgvs": [
        "ENST00000637937.1:n.280+9C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764221"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1183,
          "endIntronDirection": "+",
          "endIntronOffset": 9,
          "referenceAllele": "C",
          "start": 1183,
          "startIntronDirection": "+",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002529",
      "geneNCBI_id": 1509,
      "geneSymbol": "CTSD",
      "hgvs": [
        "ENST00000678991.1:c.*833+9C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503019.1:n.*833+9C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778626"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1105,
          "endIntronDirection": "+",
          "endIntronOffset": 9,
          "referenceAllele": "C",
          "start": 1105,
          "startIntronDirection": "+",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002529",
      "geneNCBI_id": 1509,
      "geneSymbol": "CTSD",
      "hgvs": [
        "ENST00000236671.6:c.972+9C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000236671.2:n.972+9C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248971"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 584,
          "endIntronDirection": "+",
          "endIntronOffset": 9,
          "referenceAllele": "C",
          "start": 584,
          "startIntronDirection": "+",
          "startIntronOffset": 8
        }
      ],
      "hgvs": [
        "ENST00000427721.2:c.372+9C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000415840.2:n.372+9C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS289837"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 303,
          "endIntronDirection": "+",
          "endIntronOffset": 9,
          "referenceAllele": "C",
          "start": 303,
          "startIntronDirection": "+",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002529",
      "geneNCBI_id": 1509,
      "geneSymbol": "CTSD",
      "hgvs": [
        "ENST00000429746.1:c.303+9C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000402586.1:n.303+9C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS290809"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1011,
          "endIntronDirection": "+",
          "endIntronOffset": 9,
          "referenceAllele": "C",
          "start": 1011,
          "startIntronDirection": "+",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002529",
      "geneNCBI_id": 1509,
      "geneSymbol": "CTSD",
      "hgvs": [
        "ENST00000433655.5:c.*138+9C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000404902.1:n.*138+9C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS292643"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 597,
          "referenceAllele": "C",
          "start": 596
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002529",
      "geneNCBI_id": 1509,
      "geneSymbol": "CTSD",
      "hgvs": [
        "ENST00000497544.1:n.597C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS333759"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1105,
          "endIntronDirection": "+",
          "endIntronOffset": 9,
          "referenceAllele": "C",
          "start": 1105,
          "startIntronDirection": "+",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002529",
      "geneNCBI_id": 1509,
      "geneSymbol": "CTSD",
      "hgvs": [
        "NM_001909.4:c.972+9C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001900.1:n.972+9C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027236"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1040,
          "endIntronDirection": "+",
          "endIntronOffset": 9,
          "referenceAllele": "C",
          "start": 1040,
          "startIntronDirection": "+",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002529",
      "geneNCBI_id": 1509,
      "geneSymbol": "CTSD",
      "hgvs": [
        "NM_001909.5:c.972+9C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001900.1:n.972+9C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665240",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000236671.7:c.972+9C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001909.5:c.972+9C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000236671.2:n.972+9C>T"
          },
          "RefSeq": {
            "hgvs": "NP_001900.1:n.972+9C>T"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}