{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA258133168",
  "communityStandardTitle": [
    "NM_002515.3(NOVA1):c.*3805T>C"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.26913360A>G?assembly=hg19",
        "id": "chr14:g.26913360A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.26444154A>G?assembly=hg38",
        "id": "chr14:g.26444154A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/17111228",
        "rs": 17111228
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/14-26913360-A-G?dataset=gnomad_r2_1",
        "id": "14-26913360-A-G",
        "variant": "14:26913360 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/14-26444154-A-G?dataset=gnomad_r3",
        "id": "14-26444154-A-G",
        "variant": "14:26444154 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/14-26444154-A-G?dataset=gnomad_r4",
        "id": "14-26444154-A-G",
        "variant": "14:26444154 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "G",
          "end": 26444154,
          "referenceAllele": "A",
          "start": 26444153
        }
      ],
      "hgvs": [
        "NC_000014.9:g.26444154A>G",
        "CM000676.2:g.26444154A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000062"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "G",
          "end": 26913360,
          "referenceAllele": "A",
          "start": 26913359
        }
      ],
      "hgvs": [
        "NC_000014.8:g.26913360A>G",
        "CM000676.1:g.26913360A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000038"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "G",
          "end": 25983200,
          "referenceAllele": "A",
          "start": 25983199
        }
      ],
      "hgvs": [
        "NC_000014.7:g.25983200A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000014"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5926,
          "referenceAllele": "T",
          "start": 5925
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007886",
      "geneNCBI_id": 4857,
      "geneSymbol": "NOVA1",
      "hgvs": [
        "ENST00000539517.7:c.*3805T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438875.2:n.*3805T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759600",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000539517.7:c.*3805T>C"
          },
          "RefSeq": {
            "hgvs": "NM_002515.3:c.*3805T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000438875.2:n.*3805T>C"
          },
          "RefSeq": {
            "hgvs": "NP_002506.2:n.*3805T>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5514,
          "referenceAllele": "T",
          "start": 5513
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007886",
      "geneNCBI_id": 4857,
      "geneSymbol": "NOVA1",
      "hgvs": [
        "ENST00000483536.6:c.*5065T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000448956.1:n.*5065T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS322978"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5956,
          "referenceAllele": "T",
          "start": 5955
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007886",
      "geneNCBI_id": 4857,
      "geneSymbol": "NOVA1",
      "hgvs": [
        "NM_001366390.1:c.*3805T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001353319.1:n.*3805T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524599"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6028,
          "referenceAllele": "T",
          "start": 6027
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007886",
      "geneNCBI_id": 4857,
      "geneSymbol": "NOVA1",
      "hgvs": [
        "NM_001366391.1:c.*3805T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001353320.1:n.*3805T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524600"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5923,
          "referenceAllele": "T",
          "start": 5922
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007886",
      "geneNCBI_id": 4857,
      "geneSymbol": "NOVA1",
      "hgvs": [
        "NM_001366392.1:c.*3805T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001353321.1:n.*3805T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524601"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5703,
          "referenceAllele": "T",
          "start": 5702
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007886",
      "geneNCBI_id": 4857,
      "geneSymbol": "NOVA1",
      "hgvs": [
        "NM_001366393.1:c.*3805T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001353322.1:n.*3805T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524602"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5631,
          "referenceAllele": "T",
          "start": 5630
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007886",
      "geneNCBI_id": 4857,
      "geneSymbol": "NOVA1",
      "hgvs": [
        "NM_001366394.1:c.*3805T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001353323.1:n.*3805T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524603"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5805,
          "referenceAllele": "T",
          "start": 5804
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007886",
      "geneNCBI_id": 4857,
      "geneSymbol": "NOVA1",
      "hgvs": [
        "NM_001366395.1:c.*3805T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001353324.1:n.*3805T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524604"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5495,
          "referenceAllele": "T",
          "start": 5494
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007886",
      "geneNCBI_id": 4857,
      "geneSymbol": "NOVA1",
      "hgvs": [
        "NM_001366396.1:c.*3805T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001353325.1:n.*3805T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524605"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5321,
          "referenceAllele": "T",
          "start": 5320
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007886",
      "geneNCBI_id": 4857,
      "geneSymbol": "NOVA1",
      "hgvs": [
        "NM_001366397.1:c.*3805T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001353326.1:n.*3805T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524606"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5270,
          "referenceAllele": "T",
          "start": 5269
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007886",
      "geneNCBI_id": 4857,
      "geneSymbol": "NOVA1",
      "hgvs": [
        "NM_001366398.1:c.*3805T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001353327.1:n.*3805T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524607"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5926,
          "referenceAllele": "T",
          "start": 5925
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007886",
      "geneNCBI_id": 4857,
      "geneSymbol": "NOVA1",
      "hgvs": [
        "NM_002515.3:c.*3805T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_002506.2:n.*3805T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665568",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000539517.7:c.*3805T>C"
          },
          "RefSeq": {
            "hgvs": "NM_002515.3:c.*3805T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000438875.2:n.*3805T>C"
          },
          "RefSeq": {
            "hgvs": "NP_002506.2:n.*3805T>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5956,
          "referenceAllele": "T",
          "start": 5955
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007886",
      "geneNCBI_id": 4857,
      "geneSymbol": "NOVA1",
      "hgvs": [
        "NM_001366390.2:c.*3805T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001353319.1:n.*3805T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691182"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6028,
          "referenceAllele": "T",
          "start": 6027
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007886",
      "geneNCBI_id": 4857,
      "geneSymbol": "NOVA1",
      "hgvs": [
        "NM_001366391.2:c.*3805T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001353320.1:n.*3805T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691183"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5923,
          "referenceAllele": "T",
          "start": 5922
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007886",
      "geneNCBI_id": 4857,
      "geneSymbol": "NOVA1",
      "hgvs": [
        "NM_001366392.2:c.*3805T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001353321.1:n.*3805T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691184"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5854,
          "referenceAllele": "T",
          "start": 5853
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007886",
      "geneNCBI_id": 4857,
      "geneSymbol": "NOVA1",
      "hgvs": [
        "NM_006489.3:c.*3805T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_006480.2:n.*3805T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696727"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5703,
          "referenceAllele": "T",
          "start": 5702
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007886",
      "geneNCBI_id": 4857,
      "geneSymbol": "NOVA1",
      "hgvs": [
        "NM_001366393.2:c.*3805T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001353322.1:n.*3805T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721020"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5631,
          "referenceAllele": "T",
          "start": 5630
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007886",
      "geneNCBI_id": 4857,
      "geneSymbol": "NOVA1",
      "hgvs": [
        "NM_001366394.2:c.*3805T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001353323.1:n.*3805T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721021"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5805,
          "referenceAllele": "T",
          "start": 5804
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007886",
      "geneNCBI_id": 4857,
      "geneSymbol": "NOVA1",
      "hgvs": [
        "NM_001366395.2:c.*3805T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001353324.1:n.*3805T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721022"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5495,
          "referenceAllele": "T",
          "start": 5494
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007886",
      "geneNCBI_id": 4857,
      "geneSymbol": "NOVA1",
      "hgvs": [
        "NM_001366396.2:c.*3805T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001353325.1:n.*3805T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721023"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5321,
          "referenceAllele": "T",
          "start": 5320
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007886",
      "geneNCBI_id": 4857,
      "geneSymbol": "NOVA1",
      "hgvs": [
        "NM_001366397.2:c.*3805T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001353326.1:n.*3805T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721024"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5270,
          "referenceAllele": "T",
          "start": 5269
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007886",
      "geneNCBI_id": 4857,
      "geneSymbol": "NOVA1",
      "hgvs": [
        "NM_001366398.2:c.*3805T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001353327.1:n.*3805T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721025"
    }
  ],
  "type": "nucleotide"
}