{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA8191570",
  "communityStandardTitle": [
    "NM_022041.4(GAN):c.974-11G>C"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=326444[alleleid]",
        "alleleId": 326444,
        "preferredName": "NM_022041.4(GAN):c.974-11G>C"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/320655",
        "RCV": [
          "RCV000310694"
        ],
        "variationId": 320655
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/16-81396093-G-C",
        "id": "16-81396093-G-C",
        "variant": "16:81396093 G / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.81396093G>C?assembly=hg19",
        "id": "chr16:g.81396093G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.81362488G>C?assembly=hg38",
        "id": "chr16:g.81362488G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/753746307",
        "rs": 753746307
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-81396093-G-C?dataset=gnomad_r2_1",
        "id": "16-81396093-G-C",
        "variant": "16:81396093 G / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-81362488-G-C?dataset=gnomad_r3",
        "id": "16-81362488-G-C",
        "variant": "16:81362488 G / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-81362488-G-C?dataset=gnomad_r4",
        "id": "16-81362488-G-C",
        "variant": "16:81362488 G / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 81362488,
          "referenceAllele": "G",
          "start": 81362487
        }
      ],
      "hgvs": [
        "NC_000016.10:g.81362488G>C",
        "CM000678.2:g.81362488G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 81396093,
          "referenceAllele": "G",
          "start": 81396092
        }
      ],
      "hgvs": [
        "NC_000016.9:g.81396093G>C",
        "CM000678.1:g.81396093G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 79953594,
          "referenceAllele": "G",
          "start": 79953593
        }
      ],
      "hgvs": [
        "NC_000016.8:g.79953594G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 52523,
          "referenceAllele": "G",
          "start": 52522
        }
      ],
      "hgvs": [
        "NG_009007.1:g.52523G>C",
        "LRG_242:g.52523G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001375"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1028,
          "endIntronDirection": "-",
          "endIntronOffset": 10,
          "referenceAllele": "G",
          "start": 1028,
          "startIntronDirection": "-",
          "startIntronOffset": 11
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004137",
      "geneNCBI_id": 8139,
      "geneSymbol": "GAN",
      "hgvs": [
        "ENST00000648349.2:c.*682-11G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498114.1:n.*682-11G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769926"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1125,
          "endIntronDirection": "-",
          "endIntronOffset": 10,
          "referenceAllele": "G",
          "start": 1125,
          "startIntronDirection": "-",
          "startIntronOffset": 11
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004137",
      "geneNCBI_id": 8139,
      "geneSymbol": "GAN",
      "hgvs": [
        "ENST00000648994.2:c.974-11G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497351.1:n.974-11G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770299",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000648994.2:c.974-11G>C"
          },
          "RefSeq": {
            "hgvs": "NM_022041.4:c.974-11G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000497351.1:n.974-11G>C"
          },
          "RefSeq": {
            "hgvs": "NP_071324.1:n.974-11G>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 507,
          "endIntronDirection": "-",
          "endIntronOffset": 10,
          "referenceAllele": "G",
          "start": 507,
          "startIntronDirection": "-",
          "startIntronOffset": 11
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004137",
      "geneNCBI_id": 8139,
      "geneSymbol": "GAN",
      "hgvs": [
        "ENST00000650388.1:c.508-11G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498081.1:n.508-11G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771092"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1135,
          "endIntronDirection": "-",
          "endIntronOffset": 10,
          "referenceAllele": "G",
          "start": 1135,
          "startIntronDirection": "-",
          "startIntronOffset": 11
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004137",
      "geneNCBI_id": 8139,
      "geneSymbol": "GAN",
      "hgvs": [
        "ENST00000568107.2:c.974-11G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000476795.1:n.974-11G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS380557"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1121,
          "endIntronDirection": "-",
          "endIntronOffset": 10,
          "referenceAllele": "G",
          "start": 1121,
          "startIntronDirection": "-",
          "startIntronOffset": 11
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004137",
      "geneNCBI_id": 8139,
      "geneSymbol": "GAN",
      "hgvs": [
        "NM_022041.3:c.974-11G>C",
        "LRG_242t1:c.974-11G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_071324.1:n.974-11G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037148"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1031,
          "endIntronDirection": "-",
          "endIntronOffset": 10,
          "referenceAllele": "G",
          "start": 1031,
          "startIntronDirection": "-",
          "startIntronOffset": 11
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004137",
      "geneNCBI_id": 8139,
      "geneSymbol": "GAN",
      "hgvs": [
        "XM_017023734.1:c.335-11G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879223.1:n.335-11G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574428"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1010,
          "endIntronDirection": "-",
          "endIntronOffset": 10,
          "referenceAllele": "G",
          "start": 1010,
          "startIntronDirection": "-",
          "startIntronOffset": 11
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004137",
      "geneNCBI_id": 8139,
      "geneSymbol": "GAN",
      "hgvs": [
        "NM_001377486.1:c.335-11G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001364415.1:n.335-11G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695248"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1125,
          "endIntronDirection": "-",
          "endIntronOffset": 10,
          "referenceAllele": "G",
          "start": 1125,
          "startIntronDirection": "-",
          "startIntronOffset": 11
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004137",
      "geneNCBI_id": 8139,
      "geneSymbol": "GAN",
      "hgvs": [
        "NM_022041.4:c.974-11G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_071324.1:n.974-11G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698486",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000648994.2:c.974-11G>C"
          },
          "RefSeq": {
            "hgvs": "NM_022041.4:c.974-11G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000497351.1:n.974-11G>C"
          },
          "RefSeq": {
            "hgvs": "NP_071324.1:n.974-11G>C"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}