{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA360731976",
  "communityStandardTitle": [
    "NM_001182.5(ALDH7A1):c.393+1G>A"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1691817[alleleid]",
        "alleleId": 1691817,
        "preferredName": "NM_001182.5(ALDH7A1):c.393+1G>A"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1699443",
        "RCV": [
          "RCV002273300"
        ],
        "variationId": 1699443
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.125919623C>T?assembly=hg19",
        "id": "chr5:g.125919623C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.126583931C>T?assembly=hg38",
        "id": "chr5:g.126583931C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2112804344",
        "rs": 2112804344
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 126583931,
          "referenceAllele": "C",
          "start": 126583930
        }
      ],
      "hgvs": [
        "NC_000005.10:g.126583931C>T",
        "CM000667.2:g.126583931C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 125919623,
          "referenceAllele": "C",
          "start": 125919622
        }
      ],
      "hgvs": [
        "NC_000005.9:g.125919623C>T",
        "CM000667.1:g.125919623C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 125947522,
          "referenceAllele": "C",
          "start": 125947521
        }
      ],
      "hgvs": [
        "NC_000005.8:g.125947522C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 16460,
          "referenceAllele": "G",
          "start": 16459
        }
      ],
      "hgvs": [
        "NG_008600.2:g.16460G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001122"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 16460,
          "referenceAllele": "G",
          "start": 16459
        }
      ],
      "hgvs": [
        "NG_008600.3:g.16460G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706086"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 414,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 414,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000409134.8:c.393+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387123.3:n.393+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754267",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000409134.8:c.393+1G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001182.5:c.393+1G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000387123.3:n.393+1G>A"
          },
          "RefSeq": {
            "hgvs": "NP_001173.2:n.393+1G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 393,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 393,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000412186.2:c.393+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000414536.2:n.393+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754489"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 413,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 413,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000413020.6:c.393+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000487936.1:n.393+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754518"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 630,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 630,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000458249.6:c.*302+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000403929.1:n.*302+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756631"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 576,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 576,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000479989.6:n.576+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757319"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 106,
          "endIntronDirection": "-",
          "endIntronOffset": 6719,
          "referenceAllele": "G",
          "start": 106,
          "startIntronDirection": "-",
          "startIntronOffset": 6720
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000503281.6:c.107-6720G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757969"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 354,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 354,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000509270.2:c.327+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000449318.2:n.327+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758173"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 65,
          "endIntronDirection": "-",
          "endIntronOffset": 6719,
          "referenceAllele": "G",
          "start": 65,
          "startIntronDirection": "-",
          "startIntronOffset": 6720
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000509459.6:c.66-6720G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS758181"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1115,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1115,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000511266.6:n.1115+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS758238"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 391,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 391,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000635851.1:c.391+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS762683"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 288,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 288,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000636062.1:n.288+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS762845"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 272,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 272,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000636190.1:n.272+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS762939"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 452,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 452,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000636225.1:c.*202+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490797.1:n.*202+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762965"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 111,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 111,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000636286.1:n.111+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763010"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 294,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 294,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000636743.1:c.273+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489725.1:n.273+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763348"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 600,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 600,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000636808.1:c.*202+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490833.1:n.*202+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763396"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 553,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 553,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000636872.1:c.553+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490919.1:n.553+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763447"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 414,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 414,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000636879.1:c.393+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490811.1:n.393+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763452"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 219,
          "endIntronDirection": "-",
          "endIntronOffset": 956,
          "referenceAllele": "G",
          "start": 219,
          "startIntronDirection": "-",
          "startIntronOffset": 957
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000636886.1:c.193-957G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490371.1:n.193-957G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763458"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 7,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000637070.1:n.7+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763588"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 464,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 464,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000637206.1:c.393+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489895.1:n.393+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763692"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 414,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 414,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000637272.1:c.393+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489686.1:n.393+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763744"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 46,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 46,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000637292.1:c.46+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763760"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 414,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 414,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000637782.1:c.393+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490024.1:n.393+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764103"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 359,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 359,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000637964.1:c.339+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490291.1:n.339+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764243"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 600,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 600,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000638008.1:c.*335+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490400.1:n.*335+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764271"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 613,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 613,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000409134.7:c.393+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387123.3:n.393+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281287"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 413,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 413,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000413020.5:c.393+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000487936.1:n.393+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS282872"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 585,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 585,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000447989.6:c.474+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000414132.2:n.474+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299515"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 553,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 553,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000458249.5:c.553+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000403929.1:n.553+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS304317"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 106,
          "endIntronDirection": "-",
          "endIntronOffset": 6719,
          "referenceAllele": "G",
          "start": 106,
          "startIntronDirection": "-",
          "startIntronOffset": 6720
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000503281.5:c.107-6720G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS335632"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 294,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 294,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000509270.1:c.273+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000449318.1:n.273+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS340068"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 65,
          "endIntronDirection": "-",
          "endIntronOffset": 6719,
          "referenceAllele": "G",
          "start": 65,
          "startIntronDirection": "-",
          "startIntronOffset": 6720
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000509459.5:c.66-6720G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS340215"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 306,
          "endIntronDirection": "-",
          "endIntronOffset": 956,
          "referenceAllele": "G",
          "start": 306,
          "startIntronDirection": "-",
          "startIntronOffset": 957
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000510111.6:c.307-957G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000447388.1:n.307-957G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS340714"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 348,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 348,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000511266.5:n.348+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS341573"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 531,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 531,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000553117.5:c.393+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000448593.1:n.393+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS369644"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 585,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 585,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "NM_001182.4:c.393+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001173.2:n.393+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015905"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 585,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 585,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "NM_001201377.1:c.309+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001188306.1:n.309+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017329"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 585,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 585,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "NM_001202404.1:c.474+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001189333.1:n.474+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017389"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 576,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 576,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "XM_011543417.1:c.-13+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541719.1:n.-13+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110339"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 576,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 576,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "XM_011543417.2:c.-13+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541719.1:n.-13+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555214"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 414,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 414,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "NM_001182.5:c.393+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001173.2:n.393+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663920",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000409134.8:c.393+1G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001182.5:c.393+1G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000387123.3:n.393+1G>A"
          },
          "RefSeq": {
            "hgvs": "NP_001173.2:n.393+1G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 414,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 414,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "NM_001201377.2:c.309+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001188306.1:n.309+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679672"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 414,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 414,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "NM_001202404.2:c.393+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001189333.2:n.393+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679696"
    }
  ],
  "type": "nucleotide"
}