{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA360721130",
  "communityStandardTitle": [
    "NM_001182.5(ALDH7A1):c.1433G>C (p.Cys478Ser)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.125885677C>G?assembly=hg19",
        "id": "chr5:g.125885677C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.126549985C>G?assembly=hg38",
        "id": "chr5:g.126549985C>G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "G",
          "end": 126549985,
          "referenceAllele": "C",
          "start": 126549984
        }
      ],
      "hgvs": [
        "NC_000005.10:g.126549985C>G",
        "CM000667.2:g.126549985C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "G",
          "end": 125885677,
          "referenceAllele": "C",
          "start": 125885676
        }
      ],
      "hgvs": [
        "NC_000005.9:g.125885677C>G",
        "CM000667.1:g.125885677C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "G",
          "end": 125913576,
          "referenceAllele": "C",
          "start": 125913575
        }
      ],
      "hgvs": [
        "NC_000005.8:g.125913576C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 50406,
          "referenceAllele": "G",
          "start": 50405
        }
      ],
      "hgvs": [
        "NG_008600.2:g.50406G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001122"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 50406,
          "referenceAllele": "G",
          "start": 50405
        }
      ],
      "hgvs": [
        "NG_008600.3:g.50406G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706086"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1454,
          "referenceAllele": "G",
          "start": 1453
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000409134.8:c.1433G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387123.3:p.Cys478Ser",
        "hgvsWellDefined": "ENSP00000387123.3:p.Cys478Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754267",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000409134.8:c.1433G>C"
          },
          "RefSeq": {
            "hgvs": "NM_001182.5:c.1433G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000387123.3:p.Cys478Ser"
          },
          "RefSeq": {
            "hgvs": "NP_001173.2:p.Cys478Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1670,
          "referenceAllele": "G",
          "start": 1669
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000458249.6:c.*1342G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000403929.1:n.*1342G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756631"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 180,
          "referenceAllele": "G",
          "start": 179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000485852.7:n.180G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757518"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1860,
          "referenceAllele": "G",
          "start": 1859
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000497231.7:n.1860G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757859"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1431,
          "referenceAllele": "G",
          "start": 1430
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000635851.1:c.1431G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS762683"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1328,
          "referenceAllele": "G",
          "start": 1327
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000636062.1:n.1328G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS762845"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1627,
          "referenceAllele": "G",
          "start": 1626
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000636225.1:c.*1377G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490797.1:n.*1377G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762965"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1198,
          "referenceAllele": "G",
          "start": 1197
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000636286.1:n.1198G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763010"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 967,
          "referenceAllele": "G",
          "start": 966
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000636482.1:n.967G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763148"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1334,
          "referenceAllele": "G",
          "start": 1333
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000636743.1:c.1313G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489725.1:p.Cys438Ser",
        "hgvsWellDefined": "ENSP00000489725.1:p.Cys438Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763348"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1640,
          "referenceAllele": "G",
          "start": 1639
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000636808.1:c.*1242G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490833.1:n.*1242G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763396"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1593,
          "referenceAllele": "G",
          "start": 1592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000636872.1:c.1593G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490919.1:n.1593G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763447"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1499,
          "referenceAllele": "G",
          "start": 1498
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000636879.1:c.1478G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490811.1:p.Cys493Ser",
        "hgvsWellDefined": "ENSP00000490811.1:p.Cys493Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763452"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1259,
          "referenceAllele": "G",
          "start": 1258
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000636886.1:c.1232G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490371.1:p.Cys411Ser",
        "hgvsWellDefined": "ENSP00000490371.1:p.Cys411Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763458"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1324,
          "referenceAllele": "G",
          "start": 1323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000637206.1:c.1253G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489895.1:p.Cys418Ser",
        "hgvsWellDefined": "ENSP00000489895.1:p.Cys418Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763692"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1445,
          "referenceAllele": "G",
          "start": 1444
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000637272.1:c.1424G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489686.1:p.Cys475Ser",
        "hgvsWellDefined": "ENSP00000489686.1:p.Cys475Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763744"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 889,
          "referenceAllele": "G",
          "start": 888
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000637292.1:c.889G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763760"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1454,
          "referenceAllele": "G",
          "start": 1453
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000637782.1:c.1433G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490024.1:p.Cys478Ser",
        "hgvsWellDefined": "ENSP00000490024.1:p.Cys478Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764103"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1542,
          "referenceAllele": "G",
          "start": 1541
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000638008.1:c.*1277G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490400.1:n.*1277G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764271"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1379,
          "referenceAllele": "G",
          "start": 1378
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000638010.1:n.1379G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764273"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1653,
          "referenceAllele": "G",
          "start": 1652
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000409134.7:c.1433G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387123.3:p.Cys478Ser",
        "hgvsWellDefined": "ENSP00000387123.3:p.Cys478Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281287"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1433,
          "referenceAllele": "G",
          "start": 1432
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000447989.6:c.1322G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000414132.2:p.Cys441Ser",
        "hgvsWellDefined": "ENSP00000414132.2:p.Cys441Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299515"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 391,
          "referenceAllele": "G",
          "start": 390
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000476328.1:n.391G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS317409"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 180,
          "referenceAllele": "G",
          "start": 179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000485852.6:n.180G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS324788"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1643,
          "referenceAllele": "G",
          "start": 1642
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000497231.6:n.1643G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS333511"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1379,
          "referenceAllele": "G",
          "start": 1378
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000553117.5:c.1241G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000448593.1:p.Cys414Ser",
        "hgvsWellDefined": "ENSP00000448593.1:p.Cys414Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS369644"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580151429",
      "coordinates": [
        {
          "allele": "C",
          "end": 1625,
          "referenceAllele": "G",
          "start": 1624
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "NM_001182.4:c.1433G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001173.2:p.Cys478Ser",
        "hgvsWellDefined": "NP_001173.2:p.Cys478Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015905"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826253530",
      "coordinates": [
        {
          "allele": "C",
          "end": 1625,
          "referenceAllele": "G",
          "start": 1624
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "NM_001201377.1:c.1349G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001188306.1:p.Cys450Ser",
        "hgvsWellDefined": "NP_001188306.1:p.Cys450Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017329"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1433,
          "referenceAllele": "G",
          "start": 1432
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "NM_001202404.1:c.1322G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001189333.1:p.Cys441Ser",
        "hgvsWellDefined": "NP_001189333.1:p.Cys441Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017389"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1616,
          "referenceAllele": "G",
          "start": 1615
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "XM_011543417.1:c.1028G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541719.1:p.Cys343Ser",
        "hgvsWellDefined": "XP_011541719.1:p.Cys343Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110339"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1616,
          "referenceAllele": "G",
          "start": 1615
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "XM_011543417.2:c.1028G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541719.1:p.Cys343Ser",
        "hgvsWellDefined": "XP_011541719.1:p.Cys343Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555214"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580151429",
      "coordinates": [
        {
          "allele": "C",
          "end": 1454,
          "referenceAllele": "G",
          "start": 1453
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "NM_001182.5:c.1433G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001173.2:p.Cys478Ser",
        "hgvsWellDefined": "NP_001173.2:p.Cys478Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663920",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000409134.8:c.1433G>C"
          },
          "RefSeq": {
            "hgvs": "NM_001182.5:c.1433G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000387123.3:p.Cys478Ser"
          },
          "RefSeq": {
            "hgvs": "NP_001173.2:p.Cys478Ser"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826253530",
      "coordinates": [
        {
          "allele": "C",
          "end": 1454,
          "referenceAllele": "G",
          "start": 1453
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "NM_001201377.2:c.1349G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001188306.1:p.Cys450Ser",
        "hgvsWellDefined": "NP_001188306.1:p.Cys450Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679672"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826257630",
      "coordinates": [
        {
          "allele": "C",
          "end": 1262,
          "referenceAllele": "G",
          "start": 1261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "NM_001202404.2:c.1241G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001189333.2:p.Cys414Ser",
        "hgvsWellDefined": "NP_001189333.2:p.Cys414Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679696"
    }
  ],
  "type": "nucleotide"
}