{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2144003507",
  "communityStandardTitle": [
    "NM_152443.3(RDH12):c.658+1G="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/387906272",
        "rs": 387906272
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "G",
          "end": 67727191,
          "referenceAllele": "G",
          "start": 67727190
        }
      ],
      "hgvs": [
        "NC_000014.9:g.67727191G=",
        "CM000676.2:g.67727191G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000062"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "G",
          "end": 68193908,
          "referenceAllele": "G",
          "start": 68193907
        }
      ],
      "hgvs": [
        "NC_000014.8:g.68193908G=",
        "CM000676.1:g.68193908G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000038"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "G",
          "end": 67263661,
          "referenceAllele": "G",
          "start": 67263660
        }
      ],
      "hgvs": [
        "NC_000014.7:g.67263661G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000014"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 30306,
          "referenceAllele": "G",
          "start": 30305
        }
      ],
      "hgvs": [
        "NG_008321.1:g.30306G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001028"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 982,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 982,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019977",
      "geneNCBI_id": 145226,
      "geneSymbol": "RDH12",
      "hgvs": [
        "ENST00000551171.6:c.658+1G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000449079.1:n.658+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759994",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000551171.6:c.658+1G="
          },
          "RefSeq": {
            "hgvs": "NM_152443.3:c.658+1G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000449079.1:n.658+1G="
          },
          "RefSeq": {
            "hgvs": "NP_689656.2:n.658+1G="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 938,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 938,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019977",
      "geneNCBI_id": 145226,
      "geneSymbol": "RDH12",
      "hgvs": [
        "ENST00000267502.3:c.658+1G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000267502.3:n.658+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251998"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 982,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 982,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019977",
      "geneNCBI_id": 145226,
      "geneSymbol": "RDH12",
      "hgvs": [
        "ENST00000551171.5:c.658+1G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000449079.1:n.658+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS368503"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 27,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 27,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019977",
      "geneNCBI_id": 145226,
      "geneSymbol": "RDH12",
      "hgvs": [
        "ENST00000552873.1:n.27+1G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS369495"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 982,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 982,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019977",
      "geneNCBI_id": 145226,
      "geneSymbol": "RDH12",
      "hgvs": [
        "NM_152443.2:c.658+1G="
      ],
      "proteinEffect": {
        "hgvs": "NP_689656.2:n.658+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS041888"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1872,
          "endIntronDirection": "-",
          "endIntronOffset": 8003,
          "referenceAllele": "G",
          "start": 1872,
          "startIntronDirection": "-",
          "startIntronOffset": 8004
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015465",
      "geneNCBI_id": 10243,
      "geneSymbol": "GPHN",
      "hgvs": [
        "XM_017020925.2:c.1313-8004G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016876414.1:n.1313-8004G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572274"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 982,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 982,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019977",
      "geneNCBI_id": 145226,
      "geneSymbol": "RDH12",
      "hgvs": [
        "NM_152443.3:c.658+1G="
      ],
      "proteinEffect": {
        "hgvs": "NP_689656.2:n.658+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700179",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000551171.6:c.658+1G="
          },
          "RefSeq": {
            "hgvs": "NM_152443.3:c.658+1G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000449079.1:n.658+1G="
          },
          "RefSeq": {
            "hgvs": "NP_689656.2:n.658+1G="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}