{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA360721368",
  "communityStandardTitle": [
    "NM_001182.5(ALDH7A1):c.1408T>G (p.Trp470Gly)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2472760[alleleid]",
        "alleleId": 2472760,
        "preferredName": "NM_001182.5(ALDH7A1):c.1408T>G (p.Trp470Gly)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2497677",
        "RCV": [
          "RCV003333246"
        ],
        "variationId": 2497677
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.125885895A>C?assembly=hg19",
        "id": "chr5:g.125885895A>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.126550203A>C?assembly=hg38",
        "id": "chr5:g.126550203A>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2480252596",
        "rs": 2480252596
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "C",
          "end": 126550203,
          "referenceAllele": "A",
          "start": 126550202
        }
      ],
      "hgvs": [
        "NC_000005.10:g.126550203A>C",
        "CM000667.2:g.126550203A>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "C",
          "end": 125885895,
          "referenceAllele": "A",
          "start": 125885894
        }
      ],
      "hgvs": [
        "NC_000005.9:g.125885895A>C",
        "CM000667.1:g.125885895A>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "C",
          "end": 125913794,
          "referenceAllele": "A",
          "start": 125913793
        }
      ],
      "hgvs": [
        "NC_000005.8:g.125913794A>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 50188,
          "referenceAllele": "T",
          "start": 50187
        }
      ],
      "hgvs": [
        "NG_008600.2:g.50188T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001122"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 50188,
          "referenceAllele": "T",
          "start": 50187
        }
      ],
      "hgvs": [
        "NG_008600.3:g.50188T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706086"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1429,
          "referenceAllele": "T",
          "start": 1428
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000409134.8:c.1408T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387123.3:p.Trp470Gly",
        "hgvsWellDefined": "ENSP00000387123.3:p.Trp470Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754267",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000409134.8:c.1408T>G"
          },
          "RefSeq": {
            "hgvs": "NM_001182.5:c.1408T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000387123.3:p.Trp470Gly"
          },
          "RefSeq": {
            "hgvs": "NP_001173.2:p.Trp470Gly"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1645,
          "referenceAllele": "T",
          "start": 1644
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000458249.6:c.*1317T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000403929.1:n.*1317T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756631"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1835,
          "referenceAllele": "T",
          "start": 1834
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000497231.7:n.1835T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757859"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1406,
          "referenceAllele": "T",
          "start": 1405
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000635851.1:c.1406T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS762683"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1303,
          "referenceAllele": "T",
          "start": 1302
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000636062.1:n.1303T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS762845"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1602,
          "referenceAllele": "T",
          "start": 1601
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000636225.1:c.*1352T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490797.1:n.*1352T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762965"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1126,
          "referenceAllele": "T",
          "start": 1125
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000636286.1:n.1126T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763010"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 895,
          "referenceAllele": "T",
          "start": 894
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000636482.1:n.895T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763148"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1309,
          "referenceAllele": "T",
          "start": 1308
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000636743.1:c.1288T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489725.1:p.Trp430Gly",
        "hgvsWellDefined": "ENSP00000489725.1:p.Trp430Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763348"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1615,
          "referenceAllele": "T",
          "start": 1614
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000636808.1:c.*1217T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490833.1:n.*1217T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763396"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1568,
          "referenceAllele": "T",
          "start": 1567
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000636872.1:c.1568T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490919.1:n.1568T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763447"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1474,
          "referenceAllele": "T",
          "start": 1473
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000636879.1:c.1453T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490811.1:p.Trp485Gly",
        "hgvsWellDefined": "ENSP00000490811.1:p.Trp485Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763452"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1234,
          "referenceAllele": "T",
          "start": 1233
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000636886.1:c.1207T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490371.1:p.Trp403Gly",
        "hgvsWellDefined": "ENSP00000490371.1:p.Trp403Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763458"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1299,
          "referenceAllele": "T",
          "start": 1298
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000637206.1:c.1228T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489895.1:p.Trp410Gly",
        "hgvsWellDefined": "ENSP00000489895.1:p.Trp410Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763692"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1420,
          "referenceAllele": "T",
          "start": 1419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000637272.1:c.1399T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489686.1:p.Trp467Gly",
        "hgvsWellDefined": "ENSP00000489686.1:p.Trp467Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763744"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 864,
          "referenceAllele": "T",
          "start": 863
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000637292.1:c.864T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763760"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1429,
          "referenceAllele": "T",
          "start": 1428
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000637782.1:c.1408T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490024.1:p.Trp470Gly",
        "hgvsWellDefined": "ENSP00000490024.1:p.Trp470Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764103"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1517,
          "referenceAllele": "T",
          "start": 1516
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000638008.1:c.*1252T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490400.1:n.*1252T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764271"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1354,
          "referenceAllele": "T",
          "start": 1353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000638010.1:n.1354T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764273"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1628,
          "referenceAllele": "T",
          "start": 1627
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000409134.7:c.1408T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387123.3:p.Trp470Gly",
        "hgvsWellDefined": "ENSP00000387123.3:p.Trp470Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281287"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1408,
          "referenceAllele": "T",
          "start": 1407
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000447989.6:c.1297T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000414132.2:p.Trp433Gly",
        "hgvsWellDefined": "ENSP00000414132.2:p.Trp433Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299515"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 173,
          "referenceAllele": "T",
          "start": 172
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000476328.1:n.173T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS317409"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1618,
          "referenceAllele": "T",
          "start": 1617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000497231.6:n.1618T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS333511"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1354,
          "referenceAllele": "T",
          "start": 1353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000553117.5:c.1216T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000448593.1:p.Trp406Gly",
        "hgvsWellDefined": "ENSP00000448593.1:p.Trp406Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS369644"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741839925",
      "coordinates": [
        {
          "allele": "G",
          "end": 1600,
          "referenceAllele": "T",
          "start": 1599
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "NM_001182.4:c.1408T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001173.2:p.Trp470Gly",
        "hgvsWellDefined": "NP_001173.2:p.Trp470Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015905"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826253525",
      "coordinates": [
        {
          "allele": "G",
          "end": 1600,
          "referenceAllele": "T",
          "start": 1599
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "NM_001201377.1:c.1324T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001188306.1:p.Trp442Gly",
        "hgvsWellDefined": "NP_001188306.1:p.Trp442Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017329"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1408,
          "referenceAllele": "T",
          "start": 1407
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "NM_001202404.1:c.1297T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001189333.1:p.Trp433Gly",
        "hgvsWellDefined": "NP_001189333.1:p.Trp433Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017389"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1591,
          "referenceAllele": "T",
          "start": 1590
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "XM_011543417.1:c.1003T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541719.1:p.Trp335Gly",
        "hgvsWellDefined": "XP_011541719.1:p.Trp335Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110339"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1591,
          "referenceAllele": "T",
          "start": 1590
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "XM_011543417.2:c.1003T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541719.1:p.Trp335Gly",
        "hgvsWellDefined": "XP_011541719.1:p.Trp335Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555214"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741839925",
      "coordinates": [
        {
          "allele": "G",
          "end": 1429,
          "referenceAllele": "T",
          "start": 1428
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "NM_001182.5:c.1408T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001173.2:p.Trp470Gly",
        "hgvsWellDefined": "NP_001173.2:p.Trp470Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663920",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000409134.8:c.1408T>G"
          },
          "RefSeq": {
            "hgvs": "NM_001182.5:c.1408T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000387123.3:p.Trp470Gly"
          },
          "RefSeq": {
            "hgvs": "NP_001173.2:p.Trp470Gly"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826253525",
      "coordinates": [
        {
          "allele": "G",
          "end": 1429,
          "referenceAllele": "T",
          "start": 1428
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "NM_001201377.2:c.1324T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001188306.1:p.Trp442Gly",
        "hgvsWellDefined": "NP_001188306.1:p.Trp442Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679672"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826257624",
      "coordinates": [
        {
          "allele": "G",
          "end": 1237,
          "referenceAllele": "T",
          "start": 1236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "NM_001202404.2:c.1216T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001189333.2:p.Trp406Gly",
        "hgvsWellDefined": "NP_001189333.2:p.Trp406Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679696"
    }
  ],
  "type": "nucleotide"
}