{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA252088",
  "communityStandardTitle": [
    "NM_152443.3(RDH12):c.295C>A (p.Leu99Ile)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=17094[alleleid]",
        "alleleId": 17094,
        "preferredName": "NM_152443.3(RDH12):c.295C>A (p.Leu99Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2055",
        "RCV": [
          "RCV000002136",
          "RCV000594844",
          "RCV000993758",
          "RCV001075855",
          "RCV001277202"
        ],
        "variationId": 2055
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/14-68191923-C-A",
        "id": "14-68191923-C-A",
        "variant": "14:68191923 C / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.68191923C>A?assembly=hg19",
        "id": "chr14:g.68191923C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.67725206C>A?assembly=hg38",
        "id": "chr14:g.67725206C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/28940315",
        "rs": 28940315
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/14-68191923-C-A?dataset=gnomad_r2_1",
        "id": "14-68191923-C-A",
        "variant": "14:68191923 C / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/14-67725206-C-A?dataset=gnomad_r3",
        "id": "14-67725206-C-A",
        "variant": "14:67725206 C / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/14-67725206-C-A?dataset=gnomad_r4",
        "id": "14-67725206-C-A",
        "variant": "14:67725206 C / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "A",
          "end": 67725206,
          "referenceAllele": "C",
          "start": 67725205
        }
      ],
      "hgvs": [
        "NC_000014.9:g.67725206C>A",
        "CM000676.2:g.67725206C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000062"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "A",
          "end": 68191923,
          "referenceAllele": "C",
          "start": 68191922
        }
      ],
      "hgvs": [
        "NC_000014.8:g.68191923C>A",
        "CM000676.1:g.68191923C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000038"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "A",
          "end": 67261676,
          "referenceAllele": "C",
          "start": 67261675
        }
      ],
      "hgvs": [
        "NC_000014.7:g.67261676C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000014"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 28321,
          "referenceAllele": "C",
          "start": 28320
        }
      ],
      "hgvs": [
        "NG_008321.1:g.28321C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001028"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 619,
          "referenceAllele": "C",
          "start": 618
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019977",
      "geneNCBI_id": 145226,
      "geneSymbol": "RDH12",
      "hgvs": [
        "ENST00000551171.6:c.295C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000449079.1:p.Leu99Ile",
        "hgvsWellDefined": "ENSP00000449079.1:p.Leu99Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759994",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000551171.6:c.295C>A"
          },
          "RefSeq": {
            "hgvs": "NM_152443.3:c.295C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000449079.1:p.Leu99Ile"
          },
          "RefSeq": {
            "hgvs": "NP_689656.2:p.Leu99Ile"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 575,
          "referenceAllele": "C",
          "start": 574
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019977",
      "geneNCBI_id": 145226,
      "geneSymbol": "RDH12",
      "hgvs": [
        "ENST00000267502.3:c.295C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000267502.3:p.Leu99Ile",
        "hgvsWellDefined": "ENSP00000267502.3:p.Leu99Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251998"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 619,
          "referenceAllele": "C",
          "start": 618
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019977",
      "geneNCBI_id": 145226,
      "geneSymbol": "RDH12",
      "hgvs": [
        "ENST00000551171.5:c.295C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000449079.1:p.Leu99Ile",
        "hgvsWellDefined": "ENSP00000449079.1:p.Leu99Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS368503"
    },
    {
      "@id": "http://reg.genome.network/allele/PA101170",
      "coordinates": [
        {
          "allele": "A",
          "end": 619,
          "referenceAllele": "C",
          "start": 618
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019977",
      "geneNCBI_id": 145226,
      "geneSymbol": "RDH12",
      "hgvs": [
        "NM_152443.2:c.295C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_689656.2:p.Leu99Ile",
        "hgvsWellDefined": "NP_689656.2:p.Leu99Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS041888"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1872,
          "endIntronDirection": "-",
          "endIntronOffset": 9988,
          "referenceAllele": "C",
          "start": 1872,
          "startIntronDirection": "-",
          "startIntronOffset": 9989
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015465",
      "geneNCBI_id": 10243,
      "geneSymbol": "GPHN",
      "hgvs": [
        "XM_017020925.2:c.1313-9989C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016876414.1:n.1313-9989C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572274"
    },
    {
      "@id": "http://reg.genome.network/allele/PA101170",
      "coordinates": [
        {
          "allele": "A",
          "end": 619,
          "referenceAllele": "C",
          "start": 618
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019977",
      "geneNCBI_id": 145226,
      "geneSymbol": "RDH12",
      "hgvs": [
        "NM_152443.3:c.295C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_689656.2:p.Leu99Ile",
        "hgvsWellDefined": "NP_689656.2:p.Leu99Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700179",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000551171.6:c.295C>A"
          },
          "RefSeq": {
            "hgvs": "NM_152443.3:c.295C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000449079.1:p.Leu99Ile"
          },
          "RefSeq": {
            "hgvs": "NP_689656.2:p.Leu99Ile"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}