{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA8291811",
  "communityStandardTitle": [
    "NM_004937.3(CTNS):c.661G>A (p.Val221Met)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "active": false,
        "id": "COSM4675437"
      },
      {
        "active": false,
        "id": "COSM4675438"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=877283[alleleid]",
        "alleleId": 877283,
        "preferredName": "NM_004937.3(CTNS):c.661G>A (p.Val221Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/891377",
        "RCV": [
          "RCV001126642",
          "RCV001126641",
          "RCV002482251",
          "RCV002558246"
        ],
        "variationId": 891377
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/17-3560069-G-A",
        "id": "17-3560069-G-A",
        "variant": "17:3560069 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.3560069G>A?assembly=hg19",
        "id": "chr17:g.3560069G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.3656775G>A?assembly=hg38",
        "id": "chr17:g.3656775G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/138270433",
        "rs": 138270433
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-3560069-G-A?dataset=gnomad_r2_1",
        "id": "17-3560069-G-A",
        "variant": "17:3560069 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-3656775-G-A?dataset=gnomad_r3",
        "id": "17-3656775-G-A",
        "variant": "17:3656775 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-3656775-G-A?dataset=gnomad_r4",
        "id": "17-3656775-G-A",
        "variant": "17:3656775 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 3656775,
          "referenceAllele": "G",
          "start": 3656774
        }
      ],
      "hgvs": [
        "NC_000017.11:g.3656775G>A",
        "CM000679.2:g.3656775G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 3560069,
          "referenceAllele": "G",
          "start": 3560068
        }
      ],
      "hgvs": [
        "NC_000017.10:g.3560069G>A",
        "CM000679.1:g.3560069G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 3506818,
          "referenceAllele": "G",
          "start": 3506817
        }
      ],
      "hgvs": [
        "NC_000017.9:g.3506818G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 25308,
          "referenceAllele": "G",
          "start": 25307
        }
      ],
      "hgvs": [
        "NG_012489.1:g.25308G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002417"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 25308,
          "referenceAllele": "G",
          "start": 25307
        }
      ],
      "hgvs": [
        "NG_012489.2:g.25308G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673597"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 962,
          "referenceAllele": "G",
          "start": 961
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002518",
      "geneNCBI_id": 1497,
      "geneSymbol": "CTNS",
      "hgvs": [
        "ENST00000046640.9:c.661G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000046640.4:p.Val221Met",
        "hgvsWellDefined": "ENSP00000046640.4:p.Val221Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS739992",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000046640.9:c.661G>A"
          },
          "RefSeq": {
            "hgvs": "NM_004937.3:c.661G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000046640.4:p.Val221Met"
          },
          "RefSeq": {
            "hgvs": "NP_004928.2:p.Val221Met"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1140,
          "referenceAllele": "G",
          "start": 1139
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002518",
      "geneNCBI_id": 1497,
      "geneSymbol": "CTNS",
      "hgvs": [
        "ENST00000381870.8:c.661G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371294.3:p.Val221Met",
        "hgvsWellDefined": "ENSP00000371294.3:p.Val221Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752588"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 877,
          "referenceAllele": "G",
          "start": 876
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002518",
      "geneNCBI_id": 1497,
      "geneSymbol": "CTNS",
      "hgvs": [
        "ENST00000488623.6:c.-93G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501016.1:n.-93G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757597"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 725,
          "referenceAllele": "G",
          "start": 724
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002518",
      "geneNCBI_id": 1497,
      "geneSymbol": "CTNS",
      "hgvs": [
        "ENST00000574776.6:c.220G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000461118.2:p.Val74Met",
        "hgvsWellDefined": "ENSP00000461118.2:p.Val74Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760747"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 831,
          "referenceAllele": "G",
          "start": 830
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002518",
      "geneNCBI_id": 1497,
      "geneSymbol": "CTNS",
      "hgvs": [
        "ENST00000673669.1:c.220G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501123.1:p.Val74Met",
        "hgvsWellDefined": "ENSP00000501123.1:p.Val74Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773771"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1135,
          "referenceAllele": "G",
          "start": 1134
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002518",
      "geneNCBI_id": 1497,
      "geneSymbol": "CTNS",
      "hgvs": [
        "ENST00000673965.1:c.661G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500995.1:p.Val221Met",
        "hgvsWellDefined": "ENSP00000500995.1:p.Val221Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774008"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1254,
          "referenceAllele": "G",
          "start": 1253
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002518",
      "geneNCBI_id": 1497,
      "geneSymbol": "CTNS",
      "hgvs": [
        "ENST00000046640.7:c.661G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000046640.3:p.Val221Met",
        "hgvsWellDefined": "ENSP00000046640.3:p.Val221Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247553"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1120,
          "referenceAllele": "G",
          "start": 1119
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002518",
      "geneNCBI_id": 1497,
      "geneSymbol": "CTNS",
      "hgvs": [
        "ENST00000381870.7:c.661G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371294.3:p.Val221Met",
        "hgvsWellDefined": "ENSP00000371294.3:p.Val221Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273532"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825347971",
      "coordinates": [
        {
          "allele": "A",
          "end": 1131,
          "referenceAllele": "G",
          "start": 1130
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002518",
      "geneNCBI_id": 1497,
      "geneSymbol": "CTNS",
      "hgvs": [
        "NM_001031681.2:c.661G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001026851.2:p.Val221Met",
        "hgvsWellDefined": "NP_001026851.2:p.Val221Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008984"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829549782",
      "coordinates": [
        {
          "allele": "A",
          "end": 1254,
          "referenceAllele": "G",
          "start": 1253
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002518",
      "geneNCBI_id": 1497,
      "geneSymbol": "CTNS",
      "hgvs": [
        "NM_004937.2:c.661G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004928.2:p.Val221Met",
        "hgvsWellDefined": "NP_004928.2:p.Val221Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030071"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1254,
          "referenceAllele": "G",
          "start": 1253
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002518",
      "geneNCBI_id": 1497,
      "geneSymbol": "CTNS",
      "hgvs": [
        "XM_005256485.1:c.661G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005256542.1:p.Val221Met",
        "hgvsWellDefined": "XP_005256542.1:p.Val221Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061334"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1114,
          "referenceAllele": "G",
          "start": 1113
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002518",
      "geneNCBI_id": 1497,
      "geneSymbol": "CTNS",
      "hgvs": [
        "XM_006721463.1:c.661G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721526.1:p.Val221Met",
        "hgvsWellDefined": "XP_006721526.1:p.Val221Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074084"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1169,
          "referenceAllele": "G",
          "start": 1168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002518",
      "geneNCBI_id": 1497,
      "geneSymbol": "CTNS",
      "hgvs": [
        "XM_006721464.1:c.220G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721527.1:p.Val74Met",
        "hgvsWellDefined": "XP_006721527.1:p.Val74Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074085"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1053,
          "referenceAllele": "G",
          "start": 1052
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002518",
      "geneNCBI_id": 1497,
      "geneSymbol": "CTNS",
      "hgvs": [
        "XM_011523691.1:c.661G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521993.1:p.Val221Met",
        "hgvsWellDefined": "XP_011521993.1:p.Val221Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090824"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1174,
          "referenceAllele": "G",
          "start": 1173
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002518",
      "geneNCBI_id": 1497,
      "geneSymbol": "CTNS",
      "hgvs": [
        "XM_011523692.1:c.220G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521994.1:p.Val74Met",
        "hgvsWellDefined": "XP_011521994.1:p.Val74Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090825"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1254,
          "referenceAllele": "G",
          "start": 1253
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002518",
      "geneNCBI_id": 1497,
      "geneSymbol": "CTNS",
      "hgvs": [
        "XR_934003.1:n.1254G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS129449"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1143,
          "endIntronDirection": "+",
          "endIntronOffset": 81,
          "referenceAllele": "C",
          "start": 1143,
          "startIntronDirection": "+",
          "startIntronOffset": 80
        }
      ],
      "gene": "http://reg.genome.network/gene/GN056090",
      "geneNCBI_id": 105371492,
      "geneSymbol": "CTNS-AS1",
      "hgvs": [
        "XR_934158.1:n.1143+81C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS129531"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 433,
          "endIntronDirection": "+",
          "endIntronOffset": 81,
          "referenceAllele": "C",
          "start": 433,
          "startIntronDirection": "+",
          "startIntronOffset": 80
        }
      ],
      "gene": "http://reg.genome.network/gene/GN056090",
      "geneNCBI_id": 105371492,
      "geneSymbol": "CTNS-AS1",
      "hgvs": [
        "XR_934159.1:n.433+81C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS129532"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 438,
          "endIntronDirection": "+",
          "endIntronOffset": 81,
          "referenceAllele": "C",
          "start": 438,
          "startIntronDirection": "+",
          "startIntronOffset": 80
        }
      ],
      "gene": "http://reg.genome.network/gene/GN056090",
      "geneNCBI_id": 105371492,
      "geneSymbol": "CTNS-AS1",
      "hgvs": [
        "XR_934160.1:n.438+81C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS129533"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 433,
          "endIntronDirection": "+",
          "endIntronOffset": 81,
          "referenceAllele": "C",
          "start": 433,
          "startIntronDirection": "+",
          "startIntronOffset": 80
        }
      ],
      "gene": "http://reg.genome.network/gene/GN056090",
      "geneNCBI_id": 105371492,
      "geneSymbol": "CTNS-AS1",
      "hgvs": [
        "XR_934161.1:n.433+81C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS129534"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 438,
          "endIntronDirection": "+",
          "endIntronOffset": 81,
          "referenceAllele": "C",
          "start": 438,
          "startIntronDirection": "+",
          "startIntronOffset": 80
        }
      ],
      "gene": "http://reg.genome.network/gene/GN056090",
      "geneNCBI_id": 105371492,
      "geneSymbol": "CTNS-AS1",
      "hgvs": [
        "XR_934162.1:n.438+81C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS129535"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1034,
          "endIntronDirection": "+",
          "endIntronOffset": 81,
          "referenceAllele": "C",
          "start": 1034,
          "startIntronDirection": "+",
          "startIntronOffset": 80
        }
      ],
      "gene": "http://reg.genome.network/gene/GN056090",
      "geneNCBI_id": 105371492,
      "geneSymbol": "CTNS-AS1",
      "hgvs": [
        "XR_934163.1:n.1034+81C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS129536"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1252,
          "referenceAllele": "G",
          "start": 1251
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002518",
      "geneNCBI_id": 1497,
      "geneSymbol": "CTNS",
      "hgvs": [
        "XM_005256485.3:c.661G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005256542.1:p.Val221Met",
        "hgvsWellDefined": "XP_005256542.1:p.Val221Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534485"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1114,
          "referenceAllele": "G",
          "start": 1113
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002518",
      "geneNCBI_id": 1497,
      "geneSymbol": "CTNS",
      "hgvs": [
        "XM_006721463.3:c.661G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721526.1:p.Val221Met",
        "hgvsWellDefined": "XP_006721526.1:p.Val221Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540299"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1169,
          "referenceAllele": "G",
          "start": 1168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002518",
      "geneNCBI_id": 1497,
      "geneSymbol": "CTNS",
      "hgvs": [
        "XM_006721464.2:c.220G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721527.1:p.Val74Met",
        "hgvsWellDefined": "XP_006721527.1:p.Val74Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540300"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1053,
          "referenceAllele": "G",
          "start": 1052
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002518",
      "geneNCBI_id": 1497,
      "geneSymbol": "CTNS",
      "hgvs": [
        "XM_011523691.2:c.661G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521993.1:p.Val221Met",
        "hgvsWellDefined": "XP_011521993.1:p.Val221Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547127"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1174,
          "referenceAllele": "G",
          "start": 1173
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002518",
      "geneNCBI_id": 1497,
      "geneSymbol": "CTNS",
      "hgvs": [
        "XM_011523692.2:c.220G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521994.1:p.Val74Met",
        "hgvsWellDefined": "XP_011521994.1:p.Val74Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547128"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1090,
          "referenceAllele": "G",
          "start": 1089
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002518",
      "geneNCBI_id": 1497,
      "geneSymbol": "CTNS",
      "hgvs": [
        "XM_017024254.1:c.220G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879743.1:p.Val74Met",
        "hgvsWellDefined": "XP_016879743.1:p.Val74Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574853"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1169,
          "referenceAllele": "G",
          "start": 1168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002518",
      "geneNCBI_id": 1497,
      "geneSymbol": "CTNS",
      "hgvs": [
        "XM_017024255.1:c.220G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879744.1:p.Val74Met",
        "hgvsWellDefined": "XP_016879744.1:p.Val74Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574854"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1174,
          "referenceAllele": "G",
          "start": 1173
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002518",
      "geneNCBI_id": 1497,
      "geneSymbol": "CTNS",
      "hgvs": [
        "XM_017024256.1:c.220G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879745.1:p.Val74Met",
        "hgvsWellDefined": "XP_016879745.1:p.Val74Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574855"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1090,
          "referenceAllele": "G",
          "start": 1089
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002518",
      "geneNCBI_id": 1497,
      "geneSymbol": "CTNS",
      "hgvs": [
        "XM_017024257.1:c.220G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879746.1:p.Val74Met",
        "hgvsWellDefined": "XP_016879746.1:p.Val74Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574856"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1089,
          "referenceAllele": "G",
          "start": 1088
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002518",
      "geneNCBI_id": 1497,
      "geneSymbol": "CTNS",
      "hgvs": [
        "XM_017024258.1:c.220G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879747.1:p.Val74Met",
        "hgvsWellDefined": "XP_016879747.1:p.Val74Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574857"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1160,
          "endIntronDirection": "+",
          "endIntronOffset": 81,
          "referenceAllele": "C",
          "start": 1160,
          "startIntronDirection": "+",
          "startIntronOffset": 80
        }
      ],
      "gene": "http://reg.genome.network/gene/GN056090",
      "geneNCBI_id": 105371492,
      "geneSymbol": "CTNS-AS1",
      "hgvs": [
        "XR_934158.2:n.1160+81C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610593"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 450,
          "endIntronDirection": "+",
          "endIntronOffset": 81,
          "referenceAllele": "C",
          "start": 450,
          "startIntronDirection": "+",
          "startIntronOffset": 80
        }
      ],
      "gene": "http://reg.genome.network/gene/GN056090",
      "geneNCBI_id": 105371492,
      "geneSymbol": "CTNS-AS1",
      "hgvs": [
        "XR_934159.2:n.450+81C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610594"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 455,
          "endIntronDirection": "+",
          "endIntronOffset": 81,
          "referenceAllele": "C",
          "start": 455,
          "startIntronDirection": "+",
          "startIntronOffset": 80
        }
      ],
      "gene": "http://reg.genome.network/gene/GN056090",
      "geneNCBI_id": 105371492,
      "geneSymbol": "CTNS-AS1",
      "hgvs": [
        "XR_934160.2:n.455+81C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610595"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 450,
          "endIntronDirection": "+",
          "endIntronOffset": 81,
          "referenceAllele": "C",
          "start": 450,
          "startIntronDirection": "+",
          "startIntronOffset": 80
        }
      ],
      "gene": "http://reg.genome.network/gene/GN056090",
      "geneNCBI_id": 105371492,
      "geneSymbol": "CTNS-AS1",
      "hgvs": [
        "XR_934161.2:n.450+81C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610596"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 455,
          "endIntronDirection": "+",
          "endIntronOffset": 81,
          "referenceAllele": "C",
          "start": 455,
          "startIntronDirection": "+",
          "startIntronOffset": 80
        }
      ],
      "gene": "http://reg.genome.network/gene/GN056090",
      "geneNCBI_id": 105371492,
      "geneSymbol": "CTNS-AS1",
      "hgvs": [
        "XR_934162.3:n.455+81C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610597"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1051,
          "endIntronDirection": "+",
          "endIntronOffset": 81,
          "referenceAllele": "C",
          "start": 1051,
          "startIntronDirection": "+",
          "startIntronOffset": 80
        }
      ],
      "gene": "http://reg.genome.network/gene/GN056090",
      "geneNCBI_id": 105371492,
      "geneSymbol": "CTNS-AS1",
      "hgvs": [
        "XR_934163.2:n.1051+81C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610598"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828523076",
      "coordinates": [
        {
          "allele": "A",
          "end": 962,
          "referenceAllele": "G",
          "start": 961
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002518",
      "geneNCBI_id": 1497,
      "geneSymbol": "CTNS",
      "hgvs": [
        "NM_001374492.1:c.661G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361421.1:p.Val221Met",
        "hgvsWellDefined": "NP_001361421.1:p.Val221Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693298"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828523311",
      "coordinates": [
        {
          "allele": "A",
          "end": 877,
          "referenceAllele": "G",
          "start": 876
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002518",
      "geneNCBI_id": 1497,
      "geneSymbol": "CTNS",
      "hgvs": [
        "NM_001374493.1:c.220G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361422.1:p.Val74Met",
        "hgvsWellDefined": "NP_001361422.1:p.Val74Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693299"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828523548",
      "coordinates": [
        {
          "allele": "A",
          "end": 882,
          "referenceAllele": "G",
          "start": 881
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002518",
      "geneNCBI_id": 1497,
      "geneSymbol": "CTNS",
      "hgvs": [
        "NM_001374494.1:c.220G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361423.1:p.Val74Met",
        "hgvsWellDefined": "NP_001361423.1:p.Val74Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693300"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828523785",
      "coordinates": [
        {
          "allele": "A",
          "end": 798,
          "referenceAllele": "G",
          "start": 797
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002518",
      "geneNCBI_id": 1497,
      "geneSymbol": "CTNS",
      "hgvs": [
        "NM_001374495.1:c.220G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361424.1:p.Val74Met",
        "hgvsWellDefined": "NP_001361424.1:p.Val74Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693301"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139743432",
      "coordinates": [
        {
          "allele": "A",
          "end": 797,
          "referenceAllele": "G",
          "start": 796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002518",
      "geneNCBI_id": 1497,
      "geneSymbol": "CTNS",
      "hgvs": [
        "NM_001374496.1:c.220G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361425.1:p.Val74Met",
        "hgvsWellDefined": "NP_001361425.1:p.Val74Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693302"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829549782",
      "coordinates": [
        {
          "allele": "A",
          "end": 962,
          "referenceAllele": "G",
          "start": 961
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002518",
      "geneNCBI_id": 1497,
      "geneSymbol": "CTNS",
      "hgvs": [
        "NM_004937.3:c.661G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004928.2:p.Val221Met",
        "hgvsWellDefined": "NP_004928.2:p.Val221Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696276",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000046640.9:c.661G>A"
          },
          "RefSeq": {
            "hgvs": "NM_004937.3:c.661G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000046640.4:p.Val221Met"
          },
          "RefSeq": {
            "hgvs": "NP_004928.2:p.Val221Met"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825347971",
      "coordinates": [
        {
          "allele": "A",
          "end": 1140,
          "referenceAllele": "G",
          "start": 1139
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002518",
      "geneNCBI_id": 1497,
      "geneSymbol": "CTNS",
      "hgvs": [
        "NM_001031681.3:c.661G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001026851.2:p.Val221Met",
        "hgvsWellDefined": "NP_001026851.2:p.Val221Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711482"
    }
  ],
  "type": "nucleotide"
}