{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1580446970",
  "communityStandardTitle": [
    "NM_001182.5(ALDH7A1):c.1004G= (p.Arg335=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/754449549",
        "rs": 754449549
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "C",
          "end": 126559244,
          "referenceAllele": "C",
          "start": 126559243
        }
      ],
      "hgvs": [
        "NC_000005.10:g.126559244C=",
        "CM000667.2:g.126559244C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "C",
          "end": 125894936,
          "referenceAllele": "C",
          "start": 125894935
        }
      ],
      "hgvs": [
        "NC_000005.9:g.125894936C=",
        "CM000667.1:g.125894936C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "C",
          "end": 125922835,
          "referenceAllele": "C",
          "start": 125922834
        }
      ],
      "hgvs": [
        "NC_000005.8:g.125922835C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 41147,
          "referenceAllele": "G",
          "start": 41146
        }
      ],
      "hgvs": [
        "NG_008600.2:g.41147G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001122"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 41147,
          "referenceAllele": "G",
          "start": 41146
        }
      ],
      "hgvs": [
        "NG_008600.3:g.41147G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706086"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1025,
          "referenceAllele": "G",
          "start": 1024
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000409134.8:c.1004G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387123.3:p.Arg335="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754267",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000409134.8:c.1004G="
          },
          "RefSeq": {
            "hgvs": "NM_001182.5:c.1004G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000387123.3:p.Arg335="
          },
          "RefSeq": {
            "hgvs": "NP_001173.2:p.Arg335="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1241,
          "referenceAllele": "G",
          "start": 1240
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000458249.6:c.*913G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000403929.1:n.*913G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756631"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1431,
          "referenceAllele": "G",
          "start": 1430
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000497231.7:n.1431G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757859"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 593,
          "referenceAllele": "G",
          "start": 592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000503281.6:c.593G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757969"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 513,
          "referenceAllele": "G",
          "start": 512
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000509459.6:c.513G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS758181"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1002,
          "referenceAllele": "G",
          "start": 1001
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000635851.1:c.1002G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS762683"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 899,
          "referenceAllele": "G",
          "start": 898
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000636062.1:n.899G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS762845"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1198,
          "referenceAllele": "G",
          "start": 1197
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000636225.1:c.*948G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490797.1:n.*948G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762965"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 722,
          "referenceAllele": "G",
          "start": 721
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000636286.1:n.722G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763010"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 491,
          "referenceAllele": "G",
          "start": 490
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000636482.1:n.491G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763148"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 905,
          "referenceAllele": "G",
          "start": 904
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000636743.1:c.884G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489725.1:p.Arg295="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763348"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1211,
          "referenceAllele": "G",
          "start": 1210
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000636808.1:c.*813G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490833.1:n.*813G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763396"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1164,
          "referenceAllele": "G",
          "start": 1163
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000636872.1:c.1164G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490919.1:n.1164G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763447"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1070,
          "referenceAllele": "G",
          "start": 1069
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000636879.1:c.1049G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490811.1:p.Arg350="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763452"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 830,
          "referenceAllele": "G",
          "start": 829
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000636886.1:c.803G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490371.1:p.Arg268="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763458"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 984,
          "endIntronDirection": "+",
          "endIntronOffset": 1839,
          "referenceAllele": "G",
          "start": 984,
          "startIntronDirection": "+",
          "startIntronOffset": 1838
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000637206.1:c.913+1839G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489895.1:n.913+1839G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763692"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1016,
          "referenceAllele": "G",
          "start": 1015
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000637272.1:c.995G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489686.1:p.Arg332="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763744"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 577,
          "referenceAllele": "G",
          "start": 576
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000637292.1:c.577G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763760"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1025,
          "referenceAllele": "G",
          "start": 1024
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000637782.1:c.1004G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490024.1:p.Arg335="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764103"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 970,
          "referenceAllele": "G",
          "start": 969
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000637964.1:c.950G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490291.1:p.Arg317="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764243"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1113,
          "referenceAllele": "G",
          "start": 1112
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000638008.1:c.*848G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490400.1:n.*848G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764271"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1224,
          "referenceAllele": "G",
          "start": 1223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000409134.7:c.1004G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387123.3:p.Arg335="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281287"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1196,
          "referenceAllele": "G",
          "start": 1195
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000447989.6:c.1085G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000414132.2:p.Arg362="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299515"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1214,
          "referenceAllele": "G",
          "start": 1213
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000497231.6:n.1214G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS333511"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 593,
          "referenceAllele": "G",
          "start": 592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000503281.5:c.593G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS335632"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 513,
          "referenceAllele": "G",
          "start": 512
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000509459.5:c.513G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS340215"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1142,
          "referenceAllele": "G",
          "start": 1141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "ENST00000553117.5:c.1004G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000448593.1:p.Arg335="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS369644"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3071142709",
      "coordinates": [
        {
          "allele": "G",
          "end": 1196,
          "referenceAllele": "G",
          "start": 1195
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "NM_001182.4:c.1004G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001173.2:p.Arg335="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015905"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1196,
          "referenceAllele": "G",
          "start": 1195
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "NM_001201377.1:c.920G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001188306.1:p.Arg307="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017329"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1196,
          "referenceAllele": "G",
          "start": 1195
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "NM_001202404.1:c.1085G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001189333.1:p.Arg362="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017389"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1187,
          "referenceAllele": "G",
          "start": 1186
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "XM_011543417.1:c.599G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011541719.1:p.Arg200="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110339"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1187,
          "referenceAllele": "G",
          "start": 1186
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "XM_011543417.2:c.599G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011541719.1:p.Arg200="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555214"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3071142709",
      "coordinates": [
        {
          "allele": "G",
          "end": 1025,
          "referenceAllele": "G",
          "start": 1024
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "NM_001182.5:c.1004G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001173.2:p.Arg335="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663920",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000409134.8:c.1004G="
          },
          "RefSeq": {
            "hgvs": "NM_001182.5:c.1004G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000387123.3:p.Arg335="
          },
          "RefSeq": {
            "hgvs": "NP_001173.2:p.Arg335="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1025,
          "referenceAllele": "G",
          "start": 1024
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "NM_001201377.2:c.920G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001188306.1:p.Arg307="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679672"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1025,
          "referenceAllele": "G",
          "start": 1024
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "NM_001202404.2:c.1004G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001189333.2:p.Arg335="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679696"
    }
  ],
  "type": "nucleotide"
}