{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA394654974",
  "communityStandardTitle": [
    "NM_024589.3(ROGDI):c.201-1G>C"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=960160[alleleid]",
        "alleleId": 960160,
        "preferredName": "NM_024589.3(ROGDI):c.201-1G>C"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/961208",
        "RCV": [
          "RCV001234864"
        ],
        "variationId": 961208
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.4851323C>G?assembly=hg19",
        "id": "chr16:g.4851323C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.4801322C>G?assembly=hg38",
        "id": "chr16:g.4801322C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1473111275",
        "rs": 1473111275
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-4801322-C-G?dataset=gnomad_r4",
        "id": "16-4801322-C-G",
        "variant": "16:4801322 C / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 4801322,
          "referenceAllele": "C",
          "start": 4801321
        }
      ],
      "hgvs": [
        "NC_000016.10:g.4801322C>G",
        "CM000678.2:g.4801322C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 4851323,
          "referenceAllele": "C",
          "start": 4851322
        }
      ],
      "hgvs": [
        "NC_000016.9:g.4851323C>G",
        "CM000678.1:g.4851323C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 4791324,
          "referenceAllele": "C",
          "start": 4791323
        }
      ],
      "hgvs": [
        "NC_000016.8:g.4791324C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6629,
          "referenceAllele": "G",
          "start": 6628
        }
      ],
      "hgvs": [
        "NG_032174.1:g.6629G>C",
        "LRG_455:g.6629G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005166"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 262,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 262,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029478",
      "geneNCBI_id": 79641,
      "geneSymbol": "ROGDI",
      "hgvs": [
        "ENST00000322048.12:c.201-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000322832.6:n.201-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746464",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000322048.12:c.201-1G>C"
          },
          "RefSeq": {
            "hgvs": "NM_024589.3:c.201-1G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000322832.6:n.201-1G>C"
          },
          "RefSeq": {
            "hgvs": "NP_078865.1:n.201-1G>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 579,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 579,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029478",
      "geneNCBI_id": 79641,
      "geneSymbol": "ROGDI",
      "hgvs": [
        "ENST00000322048.11:c.201-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000322832.5:n.201-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258025"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 332,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 332,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029478",
      "geneNCBI_id": 79641,
      "geneSymbol": "ROGDI",
      "hgvs": [
        "ENST00000585653.1:n.333-1G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS388864"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 690,
          "referenceAllele": "G",
          "start": 689
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029478",
      "geneNCBI_id": 79641,
      "geneSymbol": "ROGDI",
      "hgvs": [
        "ENST00000585871.1:n.690G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS389002"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 354,
          "endIntronDirection": "+",
          "endIntronOffset": 181,
          "referenceAllele": "G",
          "start": 354,
          "startIntronDirection": "+",
          "startIntronOffset": 180
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029478",
      "geneNCBI_id": 79641,
      "geneSymbol": "ROGDI",
      "hgvs": [
        "ENST00000586336.5:n.354+181G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS389329"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 244,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 244,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029478",
      "geneNCBI_id": 79641,
      "geneSymbol": "ROGDI",
      "hgvs": [
        "ENST00000587377.5:c.201-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000468343.1:n.201-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS390035"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 173,
          "endIntronDirection": "+",
          "endIntronOffset": 1060,
          "referenceAllele": "G",
          "start": 173,
          "startIntronDirection": "+",
          "startIntronOffset": 1059
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029478",
      "geneNCBI_id": 79641,
      "geneSymbol": "ROGDI",
      "hgvs": [
        "ENST00000587711.5:c.117+1060G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467459.1:n.117+1060G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS390269"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 262,
          "endIntronDirection": "+",
          "endIntronOffset": 181,
          "referenceAllele": "G",
          "start": 262,
          "startIntronDirection": "+",
          "startIntronOffset": 180
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029478",
      "geneNCBI_id": 79641,
      "geneSymbol": "ROGDI",
      "hgvs": [
        "ENST00000587843.5:c.200+181G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465970.1:n.200+181G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS390363"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 302,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 302,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029478",
      "geneNCBI_id": 79641,
      "geneSymbol": "ROGDI",
      "hgvs": [
        "ENST00000588201.5:c.201-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466529.1:n.201-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS390616"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 157,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 157,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029478",
      "geneNCBI_id": 79641,
      "geneSymbol": "ROGDI",
      "hgvs": [
        "ENST00000589543.5:n.158-1G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS391561"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 841,
          "referenceAllele": "G",
          "start": 840
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029478",
      "geneNCBI_id": 79641,
      "geneSymbol": "ROGDI",
      "hgvs": [
        "ENST00000591292.5:n.841G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS392776"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 178,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 178,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029478",
      "geneNCBI_id": 79641,
      "geneSymbol": "ROGDI",
      "hgvs": [
        "ENST00000591392.5:c.129-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467509.1:n.129-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS392839"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 579,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 579,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029478",
      "geneNCBI_id": 79641,
      "geneSymbol": "ROGDI",
      "hgvs": [
        "NM_024589.2:c.201-1G>C",
        "LRG_455t1:c.201-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_078865.1:n.201-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037848"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 579,
          "endIntronDirection": "+",
          "endIntronOffset": 181,
          "referenceAllele": "G",
          "start": 579,
          "startIntronDirection": "+",
          "startIntronOffset": 180
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029478",
      "geneNCBI_id": 79641,
      "geneSymbol": "ROGDI",
      "hgvs": [
        "NR_046480.1:n.579+181G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS051729"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 260,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 260,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029478",
      "geneNCBI_id": 79641,
      "geneSymbol": "ROGDI",
      "hgvs": [
        "XM_006720947.2:c.201-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721010.1:n.201-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073870"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 262,
          "endIntronDirection": "+",
          "endIntronOffset": 181,
          "referenceAllele": "G",
          "start": 262,
          "startIntronDirection": "+",
          "startIntronOffset": 180
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029478",
      "geneNCBI_id": 79641,
      "geneSymbol": "ROGDI",
      "hgvs": [
        "XM_006720948.2:c.-16+181G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721011.1:n.-16+181G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073871"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 489,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 489,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029478",
      "geneNCBI_id": 79641,
      "geneSymbol": "ROGDI",
      "hgvs": [
        "XM_006720947.4:c.201-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721010.1:n.201-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540198"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 489,
          "endIntronDirection": "+",
          "endIntronOffset": 181,
          "referenceAllele": "G",
          "start": 489,
          "startIntronDirection": "+",
          "startIntronOffset": 180
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029478",
      "geneNCBI_id": 79641,
      "geneSymbol": "ROGDI",
      "hgvs": [
        "XM_006720948.4:c.-16+181G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721011.1:n.-16+181G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540199"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 262,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 262,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029478",
      "geneNCBI_id": 79641,
      "geneSymbol": "ROGDI",
      "hgvs": [
        "NM_024589.3:c.201-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_078865.1:n.201-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698723",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000322048.12:c.201-1G>C"
          },
          "RefSeq": {
            "hgvs": "NM_024589.3:c.201-1G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000322832.6:n.201-1G>C"
          },
          "RefSeq": {
            "hgvs": "NP_078865.1:n.201-1G>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 262,
          "endIntronDirection": "+",
          "endIntronOffset": 181,
          "referenceAllele": "G",
          "start": 262,
          "startIntronDirection": "+",
          "startIntronOffset": 180
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029478",
      "geneNCBI_id": 79641,
      "geneSymbol": "ROGDI",
      "hgvs": [
        "NR_046480.2:n.262+181G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS730438"
    }
  ],
  "type": "nucleotide"
}