{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3389431",
  "communityStandardTitle": [
    "NM_001182.5(ALDH7A1):c.1406G>A (p.Arg469His)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=259803[alleleid]",
        "alleleId": 259803,
        "preferredName": "NM_001182.5(ALDH7A1):c.1406G>A (p.Arg469His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/265034",
        "RCV": [
          "RCV000256146",
          "RCV000327621",
          "RCV001252144",
          "RCV002392780"
        ],
        "variationId": 265034
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/5-125885897-C-T",
        "id": "5-125885897-C-T",
        "variant": "5:125885897 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.125885897C>T?assembly=hg19",
        "id": "chr5:g.125885897C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.126550205C>T?assembly=hg38",
        "id": "chr5:g.126550205C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/147940248",
        "rs": 147940248
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-125885897-C-T?dataset=gnomad_r2_1",
        "id": "5-125885897-C-T",
        "variant": "5:125885897 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-126550205-C-T?dataset=gnomad_r3",
        "id": "5-126550205-C-T",
        "variant": "5:126550205 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-126550205-C-T?dataset=gnomad_r4",
        "id": "5-126550205-C-T",
        "variant": "5:126550205 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 126550205,
          "referenceAllele": "C",
          "start": 126550204
        }
      ],
      "hgvs": [
        "NC_000005.10:g.126550205C>T",
        "CM000667.2:g.126550205C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 125885897,
          "referenceAllele": "C",
          "start": 125885896
        }
      ],
      "hgvs": [
        "NC_000005.9:g.125885897C>T",
        "CM000667.1:g.125885897C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 125913796,
          "referenceAllele": "C",
          "start": 125913795
        }
      ],
      "hgvs": [
        "NC_000005.8:g.125913796C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 50186,
          "referenceAllele": "G",
          "start": 50185
        }
      ],
      "hgvs": [
        "NG_008600.2:g.50186G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001122"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 50186,
          "referenceAllele": "G",
          "start": 50185
        }
      ],
      "hgvs": [
        "NG_008600.3:g.50186G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706086"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1427,
          "referenceAllele": "G",
          "start": 1426
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000409134.8:c.1406G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387123.3:p.Arg469His",
        "hgvsWellDefined": "ENSP00000387123.3:p.Arg469His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754267",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000409134.8:c.1406G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001182.5:c.1406G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000387123.3:p.Arg469His"
          },
          "RefSeq": {
            "hgvs": "NP_001173.2:p.Arg469His"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1643,
          "referenceAllele": "G",
          "start": 1642
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000458249.6:c.*1315G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000403929.1:n.*1315G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756631"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1833,
          "referenceAllele": "G",
          "start": 1832
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000497231.7:n.1833G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757859"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1404,
          "referenceAllele": "G",
          "start": 1403
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000635851.1:c.1404G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS762683"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1301,
          "referenceAllele": "G",
          "start": 1300
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000636062.1:n.1301G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS762845"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1600,
          "referenceAllele": "G",
          "start": 1599
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000636225.1:c.*1350G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490797.1:n.*1350G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762965"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1124,
          "referenceAllele": "G",
          "start": 1123
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000636286.1:n.1124G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763010"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 893,
          "referenceAllele": "G",
          "start": 892
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000636482.1:n.893G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763148"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1307,
          "referenceAllele": "G",
          "start": 1306
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000636743.1:c.1286G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489725.1:p.Arg429His",
        "hgvsWellDefined": "ENSP00000489725.1:p.Arg429His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763348"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1613,
          "referenceAllele": "G",
          "start": 1612
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000636808.1:c.*1215G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490833.1:n.*1215G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763396"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1566,
          "referenceAllele": "G",
          "start": 1565
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000636872.1:c.1566G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490919.1:n.1566G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763447"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1472,
          "referenceAllele": "G",
          "start": 1471
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000636879.1:c.1451G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490811.1:p.Arg484His",
        "hgvsWellDefined": "ENSP00000490811.1:p.Arg484His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763452"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1232,
          "referenceAllele": "G",
          "start": 1231
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000636886.1:c.1205G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490371.1:p.Arg402His",
        "hgvsWellDefined": "ENSP00000490371.1:p.Arg402His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763458"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1297,
          "referenceAllele": "G",
          "start": 1296
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000637206.1:c.1226G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489895.1:p.Arg409His",
        "hgvsWellDefined": "ENSP00000489895.1:p.Arg409His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763692"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1418,
          "referenceAllele": "G",
          "start": 1417
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000637272.1:c.1397G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489686.1:p.Arg466His",
        "hgvsWellDefined": "ENSP00000489686.1:p.Arg466His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763744"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 862,
          "referenceAllele": "G",
          "start": 861
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000637292.1:c.862G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763760"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1427,
          "referenceAllele": "G",
          "start": 1426
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000637782.1:c.1406G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490024.1:p.Arg469His",
        "hgvsWellDefined": "ENSP00000490024.1:p.Arg469His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764103"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1515,
          "referenceAllele": "G",
          "start": 1514
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000638008.1:c.*1250G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490400.1:n.*1250G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764271"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1352,
          "referenceAllele": "G",
          "start": 1351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000638010.1:n.1352G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764273"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1626,
          "referenceAllele": "G",
          "start": 1625
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000409134.7:c.1406G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387123.3:p.Arg469His",
        "hgvsWellDefined": "ENSP00000387123.3:p.Arg469His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281287"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1406,
          "referenceAllele": "G",
          "start": 1405
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000447989.6:c.1295G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000414132.2:p.Arg432His",
        "hgvsWellDefined": "ENSP00000414132.2:p.Arg432His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299515"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 171,
          "referenceAllele": "G",
          "start": 170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000476328.1:n.171G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS317409"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1616,
          "referenceAllele": "G",
          "start": 1615
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000497231.6:n.1616G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS333511"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1352,
          "referenceAllele": "G",
          "start": 1351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000553117.5:c.1214G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000448593.1:p.Arg405His",
        "hgvsWellDefined": "ENSP00000448593.1:p.Arg405His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS369644"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645492343",
      "coordinates": [
        {
          "allele": "A",
          "end": 1598,
          "referenceAllele": "G",
          "start": 1597
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "NM_001182.4:c.1406G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001173.2:p.Arg469His",
        "hgvsWellDefined": "NP_001173.2:p.Arg469His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015905"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826253522",
      "coordinates": [
        {
          "allele": "A",
          "end": 1598,
          "referenceAllele": "G",
          "start": 1597
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "NM_001201377.1:c.1322G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001188306.1:p.Arg441His",
        "hgvsWellDefined": "NP_001188306.1:p.Arg441His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017329"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1406,
          "referenceAllele": "G",
          "start": 1405
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "NM_001202404.1:c.1295G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001189333.1:p.Arg432His",
        "hgvsWellDefined": "NP_001189333.1:p.Arg432His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017389"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1589,
          "referenceAllele": "G",
          "start": 1588
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "XM_011543417.1:c.1001G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541719.1:p.Arg334His",
        "hgvsWellDefined": "XP_011541719.1:p.Arg334His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110339"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1589,
          "referenceAllele": "G",
          "start": 1588
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "XM_011543417.2:c.1001G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541719.1:p.Arg334His",
        "hgvsWellDefined": "XP_011541719.1:p.Arg334His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555214"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645492343",
      "coordinates": [
        {
          "allele": "A",
          "end": 1427,
          "referenceAllele": "G",
          "start": 1426
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "NM_001182.5:c.1406G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001173.2:p.Arg469His",
        "hgvsWellDefined": "NP_001173.2:p.Arg469His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663920",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000409134.8:c.1406G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001182.5:c.1406G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000387123.3:p.Arg469His"
          },
          "RefSeq": {
            "hgvs": "NP_001173.2:p.Arg469His"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826253522",
      "coordinates": [
        {
          "allele": "A",
          "end": 1427,
          "referenceAllele": "G",
          "start": 1426
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "NM_001201377.2:c.1322G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001188306.1:p.Arg441His",
        "hgvsWellDefined": "NP_001188306.1:p.Arg441His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679672"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826257622",
      "coordinates": [
        {
          "allele": "A",
          "end": 1235,
          "referenceAllele": "G",
          "start": 1234
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "NM_001202404.2:c.1214G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001189333.2:p.Arg405His",
        "hgvsWellDefined": "NP_001189333.2:p.Arg405His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679696"
    }
  ],
  "type": "nucleotide"
}