{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA7882883",
  "communityStandardTitle": [
    "NM_024589.3(ROGDI):c.243C>T (p.Ala81=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=242441[alleleid]",
        "alleleId": 242441,
        "preferredName": "NM_024589.3(ROGDI):c.243C>T (p.Ala81=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/241506",
        "RCV": [
          "RCV000231308",
          "RCV003907893"
        ],
        "variationId": 241506
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/16-4851280-G-A",
        "id": "16-4851280-G-A",
        "variant": "16:4851280 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.4851280G>A?assembly=hg19",
        "id": "chr16:g.4851280G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.4801279G>A?assembly=hg38",
        "id": "chr16:g.4801279G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/148051351",
        "rs": 148051351
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-4851280-G-A?dataset=gnomad_r2_1",
        "id": "16-4851280-G-A",
        "variant": "16:4851280 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-4801279-G-A?dataset=gnomad_r3",
        "id": "16-4801279-G-A",
        "variant": "16:4801279 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-4801279-G-A?dataset=gnomad_r4",
        "id": "16-4801279-G-A",
        "variant": "16:4801279 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 4801279,
          "referenceAllele": "G",
          "start": 4801278
        }
      ],
      "hgvs": [
        "NC_000016.10:g.4801279G>A",
        "CM000678.2:g.4801279G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 4851280,
          "referenceAllele": "G",
          "start": 4851279
        }
      ],
      "hgvs": [
        "NC_000016.9:g.4851280G>A",
        "CM000678.1:g.4851280G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 4791281,
          "referenceAllele": "G",
          "start": 4791280
        }
      ],
      "hgvs": [
        "NC_000016.8:g.4791281G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6672,
          "referenceAllele": "C",
          "start": 6671
        }
      ],
      "hgvs": [
        "NG_032174.1:g.6672C>T",
        "LRG_455:g.6672C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005166"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 305,
          "referenceAllele": "C",
          "start": 304
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029478",
      "geneNCBI_id": 79641,
      "geneSymbol": "ROGDI",
      "hgvs": [
        "ENST00000322048.12:c.243C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000322832.6:p.Ala81="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746464",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000322048.12:c.243C>T"
          },
          "RefSeq": {
            "hgvs": "NM_024589.3:c.243C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000322832.6:p.Ala81="
          },
          "RefSeq": {
            "hgvs": "NP_078865.1:p.Ala81="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 622,
          "referenceAllele": "C",
          "start": 621
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029478",
      "geneNCBI_id": 79641,
      "geneSymbol": "ROGDI",
      "hgvs": [
        "ENST00000322048.11:c.243C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000322832.5:p.Ala81="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258025"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 375,
          "referenceAllele": "C",
          "start": 374
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029478",
      "geneNCBI_id": 79641,
      "geneSymbol": "ROGDI",
      "hgvs": [
        "ENST00000585653.1:n.375C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS388864"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 733,
          "referenceAllele": "C",
          "start": 732
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029478",
      "geneNCBI_id": 79641,
      "geneSymbol": "ROGDI",
      "hgvs": [
        "ENST00000585871.1:n.733C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS389002"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 354,
          "endIntronDirection": "+",
          "endIntronOffset": 224,
          "referenceAllele": "C",
          "start": 354,
          "startIntronDirection": "+",
          "startIntronOffset": 223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029478",
      "geneNCBI_id": 79641,
      "geneSymbol": "ROGDI",
      "hgvs": [
        "ENST00000586336.5:n.354+224C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS389329"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 23,
          "referenceAllele": "C",
          "start": 22
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029478",
      "geneNCBI_id": 79641,
      "geneSymbol": "ROGDI",
      "hgvs": [
        "ENST00000586504.5:c.23C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS389431"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 287,
          "referenceAllele": "C",
          "start": 286
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029478",
      "geneNCBI_id": 79641,
      "geneSymbol": "ROGDI",
      "hgvs": [
        "ENST00000587377.5:c.243C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000468343.1:p.Ala81="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS390035"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 173,
          "endIntronDirection": "+",
          "endIntronOffset": 1103,
          "referenceAllele": "C",
          "start": 173,
          "startIntronDirection": "+",
          "startIntronOffset": 1102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029478",
      "geneNCBI_id": 79641,
      "geneSymbol": "ROGDI",
      "hgvs": [
        "ENST00000587711.5:c.117+1103C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467459.1:n.117+1103C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS390269"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 262,
          "endIntronDirection": "+",
          "endIntronOffset": 224,
          "referenceAllele": "C",
          "start": 262,
          "startIntronDirection": "+",
          "startIntronOffset": 223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029478",
      "geneNCBI_id": 79641,
      "geneSymbol": "ROGDI",
      "hgvs": [
        "ENST00000587843.5:c.200+224C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465970.1:n.200+224C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS390363"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 345,
          "referenceAllele": "C",
          "start": 344
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029478",
      "geneNCBI_id": 79641,
      "geneSymbol": "ROGDI",
      "hgvs": [
        "ENST00000588201.5:c.243C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466529.1:p.Ala81="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS390616"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 200,
          "referenceAllele": "C",
          "start": 199
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029478",
      "geneNCBI_id": 79641,
      "geneSymbol": "ROGDI",
      "hgvs": [
        "ENST00000589543.5:n.200C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS391561"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 884,
          "referenceAllele": "C",
          "start": 883
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029478",
      "geneNCBI_id": 79641,
      "geneSymbol": "ROGDI",
      "hgvs": [
        "ENST00000591292.5:n.884C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS392776"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 221,
          "referenceAllele": "C",
          "start": 220
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029478",
      "geneNCBI_id": 79641,
      "geneSymbol": "ROGDI",
      "hgvs": [
        "ENST00000591392.5:c.171C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467509.1:p.Ala57="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS392839"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830017615",
      "coordinates": [
        {
          "allele": "T",
          "end": 622,
          "referenceAllele": "C",
          "start": 621
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029478",
      "geneNCBI_id": 79641,
      "geneSymbol": "ROGDI",
      "hgvs": [
        "NM_024589.2:c.243C>T",
        "LRG_455t1:c.243C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_078865.1:p.Ala81="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037848"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 579,
          "endIntronDirection": "+",
          "endIntronOffset": 224,
          "referenceAllele": "C",
          "start": 579,
          "startIntronDirection": "+",
          "startIntronOffset": 223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029478",
      "geneNCBI_id": 79641,
      "geneSymbol": "ROGDI",
      "hgvs": [
        "NR_046480.1:n.579+224C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS051729"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 303,
          "referenceAllele": "C",
          "start": 302
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029478",
      "geneNCBI_id": 79641,
      "geneSymbol": "ROGDI",
      "hgvs": [
        "XM_006720947.2:c.243C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721010.1:p.Ala81="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073870"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 262,
          "endIntronDirection": "+",
          "endIntronOffset": 224,
          "referenceAllele": "C",
          "start": 262,
          "startIntronDirection": "+",
          "startIntronOffset": 223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029478",
      "geneNCBI_id": 79641,
      "geneSymbol": "ROGDI",
      "hgvs": [
        "XM_006720948.2:c.-16+224C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721011.1:n.-16+224C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073871"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 532,
          "referenceAllele": "C",
          "start": 531
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029478",
      "geneNCBI_id": 79641,
      "geneSymbol": "ROGDI",
      "hgvs": [
        "XM_006720947.4:c.243C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721010.1:p.Ala81="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540198"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 489,
          "endIntronDirection": "+",
          "endIntronOffset": 224,
          "referenceAllele": "C",
          "start": 489,
          "startIntronDirection": "+",
          "startIntronOffset": 223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029478",
      "geneNCBI_id": 79641,
      "geneSymbol": "ROGDI",
      "hgvs": [
        "XM_006720948.4:c.-16+224C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721011.1:n.-16+224C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540199"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830017615",
      "coordinates": [
        {
          "allele": "T",
          "end": 305,
          "referenceAllele": "C",
          "start": 304
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029478",
      "geneNCBI_id": 79641,
      "geneSymbol": "ROGDI",
      "hgvs": [
        "NM_024589.3:c.243C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_078865.1:p.Ala81="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698723",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000322048.12:c.243C>T"
          },
          "RefSeq": {
            "hgvs": "NM_024589.3:c.243C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000322832.6:p.Ala81="
          },
          "RefSeq": {
            "hgvs": "NP_078865.1:p.Ala81="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 262,
          "endIntronDirection": "+",
          "endIntronOffset": 224,
          "referenceAllele": "C",
          "start": 262,
          "startIntronDirection": "+",
          "startIntronOffset": 223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029478",
      "geneNCBI_id": 79641,
      "geneSymbol": "ROGDI",
      "hgvs": [
        "NR_046480.2:n.262+224C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS730438"
    }
  ],
  "type": "nucleotide"
}