{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3389603",
  "communityStandardTitle": [
    "NM_001182.5(ALDH7A1):c.913+8T>C"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=368112[alleleid]",
        "alleleId": 368112,
        "preferredName": "NM_001182.5(ALDH7A1):c.913+8T>C"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/377462",
        "RCV": [
          "RCV000424179",
          "RCV000868855"
        ],
        "variationId": 377462
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/5-125896767-A-G",
        "id": "5-125896767-A-G",
        "variant": "5:125896767 A / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.125896767A>G?assembly=hg19",
        "id": "chr5:g.125896767A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.126561075A>G?assembly=hg38",
        "id": "chr5:g.126561075A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/766528289",
        "rs": 766528289
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-125896767-A-G?dataset=gnomad_r2_1",
        "id": "5-125896767-A-G",
        "variant": "5:125896767 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-126561075-A-G?dataset=gnomad_r3",
        "id": "5-126561075-A-G",
        "variant": "5:126561075 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-126561075-A-G?dataset=gnomad_r4",
        "id": "5-126561075-A-G",
        "variant": "5:126561075 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "G",
          "end": 126561075,
          "referenceAllele": "A",
          "start": 126561074
        }
      ],
      "hgvs": [
        "NC_000005.10:g.126561075A>G",
        "CM000667.2:g.126561075A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "G",
          "end": 125896767,
          "referenceAllele": "A",
          "start": 125896766
        }
      ],
      "hgvs": [
        "NC_000005.9:g.125896767A>G",
        "CM000667.1:g.125896767A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "G",
          "end": 125924666,
          "referenceAllele": "A",
          "start": 125924665
        }
      ],
      "hgvs": [
        "NC_000005.8:g.125924666A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 39316,
          "referenceAllele": "T",
          "start": 39315
        }
      ],
      "hgvs": [
        "NG_008600.2:g.39316T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001122"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 39316,
          "referenceAllele": "T",
          "start": 39315
        }
      ],
      "hgvs": [
        "NG_008600.3:g.39316T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706086"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 934,
          "endIntronDirection": "+",
          "endIntronOffset": 8,
          "referenceAllele": "T",
          "start": 934,
          "startIntronDirection": "+",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000409134.8:c.913+8T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387123.3:n.913+8T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754267",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000409134.8:c.913+8T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001182.5:c.913+8T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000387123.3:n.913+8T>C"
          },
          "RefSeq": {
            "hgvs": "NP_001173.2:n.913+8T>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1150,
          "endIntronDirection": "+",
          "endIntronOffset": 8,
          "referenceAllele": "T",
          "start": 1150,
          "startIntronDirection": "+",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000458249.6:c.*822+8T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000403929.1:n.*822+8T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756631"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1340,
          "endIntronDirection": "+",
          "endIntronOffset": 8,
          "referenceAllele": "T",
          "start": 1340,
          "startIntronDirection": "+",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000497231.7:n.1340+8T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757859"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 502,
          "endIntronDirection": "+",
          "endIntronOffset": 8,
          "referenceAllele": "T",
          "start": 502,
          "startIntronDirection": "+",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000503281.6:c.502+8T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757969"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 461,
          "endIntronDirection": "+",
          "endIntronOffset": 8,
          "referenceAllele": "T",
          "start": 461,
          "startIntronDirection": "+",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000509459.6:c.461+8T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS758181"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 911,
          "endIntronDirection": "+",
          "endIntronOffset": 8,
          "referenceAllele": "T",
          "start": 911,
          "startIntronDirection": "+",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000635851.1:c.911+8T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS762683"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 808,
          "endIntronDirection": "+",
          "endIntronOffset": 8,
          "referenceAllele": "T",
          "start": 808,
          "startIntronDirection": "+",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000636062.1:n.808+8T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS762845"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1107,
          "endIntronDirection": "+",
          "endIntronOffset": 8,
          "referenceAllele": "T",
          "start": 1107,
          "startIntronDirection": "+",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000636225.1:c.*857+8T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490797.1:n.*857+8T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762965"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 631,
          "endIntronDirection": "+",
          "endIntronOffset": 8,
          "referenceAllele": "T",
          "start": 631,
          "startIntronDirection": "+",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000636286.1:n.631+8T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763010"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 400,
          "endIntronDirection": "+",
          "endIntronOffset": 8,
          "referenceAllele": "T",
          "start": 400,
          "startIntronDirection": "+",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000636482.1:n.400+8T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763148"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 814,
          "endIntronDirection": "+",
          "endIntronOffset": 8,
          "referenceAllele": "T",
          "start": 814,
          "startIntronDirection": "+",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000636743.1:c.793+8T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489725.1:n.793+8T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763348"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1120,
          "endIntronDirection": "+",
          "endIntronOffset": 8,
          "referenceAllele": "T",
          "start": 1120,
          "startIntronDirection": "+",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000636808.1:c.*722+8T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490833.1:n.*722+8T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763396"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1073,
          "endIntronDirection": "+",
          "endIntronOffset": 8,
          "referenceAllele": "T",
          "start": 1073,
          "startIntronDirection": "+",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000636872.1:c.1073+8T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490919.1:n.1073+8T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763447"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 979,
          "endIntronDirection": "+",
          "endIntronOffset": 8,
          "referenceAllele": "T",
          "start": 979,
          "startIntronDirection": "+",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000636879.1:c.958+8T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490811.1:n.958+8T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763452"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 739,
          "endIntronDirection": "+",
          "endIntronOffset": 8,
          "referenceAllele": "T",
          "start": 739,
          "startIntronDirection": "+",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000636886.1:c.712+8T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490371.1:n.712+8T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763458"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 984,
          "endIntronDirection": "+",
          "endIntronOffset": 8,
          "referenceAllele": "T",
          "start": 984,
          "startIntronDirection": "+",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000637206.1:c.913+8T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489895.1:n.913+8T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763692"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 934,
          "endIntronDirection": "+",
          "endIntronOffset": 8,
          "referenceAllele": "T",
          "start": 934,
          "startIntronDirection": "+",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000637272.1:c.913+8T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489686.1:n.913+8T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763744"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 468,
          "endIntronDirection": "+",
          "endIntronOffset": 8,
          "referenceAllele": "T",
          "start": 468,
          "startIntronDirection": "+",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000637292.1:c.468+8T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763760"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 934,
          "endIntronDirection": "+",
          "endIntronOffset": 8,
          "referenceAllele": "T",
          "start": 934,
          "startIntronDirection": "+",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000637782.1:c.913+8T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490024.1:n.913+8T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764103"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 879,
          "endIntronDirection": "+",
          "endIntronOffset": 8,
          "referenceAllele": "T",
          "start": 879,
          "startIntronDirection": "+",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000637964.1:c.859+8T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490291.1:n.859+8T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764243"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1022,
          "endIntronDirection": "+",
          "endIntronOffset": 8,
          "referenceAllele": "T",
          "start": 1022,
          "startIntronDirection": "+",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000638008.1:c.*757+8T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490400.1:n.*757+8T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764271"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1133,
          "endIntronDirection": "+",
          "endIntronOffset": 8,
          "referenceAllele": "T",
          "start": 1133,
          "startIntronDirection": "+",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000409134.7:c.913+8T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387123.3:n.913+8T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281287"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1105,
          "endIntronDirection": "+",
          "endIntronOffset": 8,
          "referenceAllele": "T",
          "start": 1105,
          "startIntronDirection": "+",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000447989.6:c.994+8T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000414132.2:n.994+8T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299515"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1123,
          "endIntronDirection": "+",
          "endIntronOffset": 8,
          "referenceAllele": "T",
          "start": 1123,
          "startIntronDirection": "+",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000497231.6:n.1123+8T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS333511"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 502,
          "endIntronDirection": "+",
          "endIntronOffset": 8,
          "referenceAllele": "T",
          "start": 502,
          "startIntronDirection": "+",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000503281.5:c.502+8T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS335632"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 461,
          "endIntronDirection": "+",
          "endIntronOffset": 8,
          "referenceAllele": "T",
          "start": 461,
          "startIntronDirection": "+",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000509459.5:c.461+8T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS340215"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1051,
          "endIntronDirection": "+",
          "endIntronOffset": 8,
          "referenceAllele": "T",
          "start": 1051,
          "startIntronDirection": "+",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000553117.5:c.913+8T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000448593.1:n.913+8T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS369644"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1105,
          "endIntronDirection": "+",
          "endIntronOffset": 8,
          "referenceAllele": "T",
          "start": 1105,
          "startIntronDirection": "+",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "NM_001182.4:c.913+8T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001173.2:n.913+8T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015905"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1105,
          "endIntronDirection": "+",
          "endIntronOffset": 8,
          "referenceAllele": "T",
          "start": 1105,
          "startIntronDirection": "+",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "NM_001201377.1:c.829+8T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001188306.1:n.829+8T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017329"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1105,
          "endIntronDirection": "+",
          "endIntronOffset": 8,
          "referenceAllele": "T",
          "start": 1105,
          "startIntronDirection": "+",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "NM_001202404.1:c.994+8T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001189333.1:n.994+8T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017389"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1096,
          "endIntronDirection": "+",
          "endIntronOffset": 8,
          "referenceAllele": "T",
          "start": 1096,
          "startIntronDirection": "+",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "XM_011543417.1:c.508+8T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541719.1:n.508+8T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110339"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1096,
          "endIntronDirection": "+",
          "endIntronOffset": 8,
          "referenceAllele": "T",
          "start": 1096,
          "startIntronDirection": "+",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "XM_011543417.2:c.508+8T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541719.1:n.508+8T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555214"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 934,
          "endIntronDirection": "+",
          "endIntronOffset": 8,
          "referenceAllele": "T",
          "start": 934,
          "startIntronDirection": "+",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "NM_001182.5:c.913+8T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001173.2:n.913+8T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663920",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000409134.8:c.913+8T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001182.5:c.913+8T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000387123.3:n.913+8T>C"
          },
          "RefSeq": {
            "hgvs": "NP_001173.2:n.913+8T>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 934,
          "endIntronDirection": "+",
          "endIntronOffset": 8,
          "referenceAllele": "T",
          "start": 934,
          "startIntronDirection": "+",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "NM_001201377.2:c.829+8T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001188306.1:n.829+8T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679672"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 934,
          "endIntronDirection": "+",
          "endIntronOffset": 8,
          "referenceAllele": "T",
          "start": 934,
          "startIntronDirection": "+",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "NM_001202404.2:c.913+8T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001189333.2:n.913+8T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679696"
    }
  ],
  "type": "nucleotide"
}