{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA114308",
  "communityStandardTitle": [
    "NM_000035.4(ALDOB):c.720C>A (p.Cys240Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=15507[alleleid]",
        "alleleId": 15507,
        "preferredName": "NM_000035.4(ALDOB):c.720C>A (p.Cys240Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/468",
        "RCV": [
          "RCV000000497"
        ],
        "variationId": 468
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.104187814G>T?assembly=hg19",
        "id": "chr9:g.104187814G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.101425532G>T?assembly=hg38",
        "id": "chr9:g.101425532G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/118204426",
        "rs": 118204426
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 101425532,
          "referenceAllele": "G",
          "start": 101425531
        }
      ],
      "hgvs": [
        "NC_000009.12:g.101425532G>T",
        "CM000671.2:g.101425532G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 104187814,
          "referenceAllele": "G",
          "start": 104187813
        }
      ],
      "hgvs": [
        "NC_000009.11:g.104187814G>T",
        "CM000671.1:g.104187814G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 103227635,
          "referenceAllele": "G",
          "start": 103227634
        }
      ],
      "hgvs": [
        "NC_000009.10:g.103227635G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 15249,
          "referenceAllele": "C",
          "start": 15248
        }
      ],
      "hgvs": [
        "NG_012387.1:g.15249C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002391"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 796,
          "referenceAllele": "C",
          "start": 795
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000417",
      "geneNCBI_id": 229,
      "geneSymbol": "ALDOB",
      "hgvs": [
        "ENST00000647789.2:c.720C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497767.1:p.Cys240Ter",
        "hgvsWellDefined": "ENSP00000497767.1:p.Cys240_Tyr364delinsThrLysLysTyrThrProGluGlnValAlaMetAlaThrValThrAlaLeuHisArgThrValProAlaAlaValProGlyIleCysPheLeuSerGlyGlyMetSerGluGluAspAlaThrLeuAsnLeuAsnAlaIleAsnLeuCysProLeuProLysProTrpLysLeuSerPheSerTyrGlyArgAlaLeuGlnAlaSerAlaLeuAlaAlaTrpGlyGlyLysAlaAlaAsnLysGluAlaThrGlnGluAlaPheMetLysArgAlaMetAlaAsnCysGlnAlaAlaLysGlyGlnTyrValHisThrGlySerSerGlyAlaAlaSerThrGlnSerLeuPheThrAlaCysTyrThrTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769613",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000647789.2:c.720C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000035.4:c.720C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000497767.1:p.Cys240Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000026.2:p.Cys240Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 867,
          "referenceAllele": "C",
          "start": 866
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000417",
      "geneNCBI_id": 229,
      "geneSymbol": "ALDOB",
      "hgvs": [
        "ENST00000648064.1:c.720C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497990.1:p.Cys240Ter",
        "hgvsWellDefined": "ENSP00000497990.1:p.Cys240_Tyr364delinsThrLysLysTyrThrProGluGlnValAlaMetAlaThrValThrAlaLeuHisArgThrValProAlaAlaValProGlyIleCysPheLeuSerGlyGlyMetSerGluGluAspAlaThrLeuAsnLeuAsnAlaIleAsnLeuCysProLeuProLysProTrpLysLeuSerPheSerTyrGlyArgAlaLeuGlnAlaSerAlaLeuAlaAlaTrpGlyGlyLysAlaAlaAsnLysGluAlaThrGlnGluAlaPheMetLysArgAlaMetAlaAsnCysGlnAlaAlaLysGlyGlnTyrValHisThrGlySerSerGlyAlaAlaSerThrGlnSerLeuPheThrAlaCysTyrThrTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769770"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 894,
          "referenceAllele": "C",
          "start": 893
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000417",
      "geneNCBI_id": 229,
      "geneSymbol": "ALDOB",
      "hgvs": [
        "ENST00000648758.1:c.720C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497731.1:p.Cys240Ter",
        "hgvsWellDefined": "ENSP00000497731.1:p.Cys240_Tyr364delinsThrLysLysTyrThrProGluGlnValAlaMetAlaThrValThrAlaLeuHisArgThrValProAlaAlaValProGlyIleCysPheLeuSerGlyGlyMetSerGluGluAspAlaThrLeuAsnLeuAsnAlaIleAsnLeuCysProLeuProLysProTrpLysLeuSerPheSerTyrGlyArgAlaLeuGlnAlaSerAlaLeuAlaAlaTrpGlyGlyLysAlaAlaAsnLysGluAlaThrGlnGluAlaPheMetLysArgAlaMetAlaAsnCysGlnAlaAlaLysGlyGlnTyrValHisThrGlySerSerGlyAlaAlaSerThrGlnSerLeuPheThrAlaCysTyrThrTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770160"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 740,
          "referenceAllele": "C",
          "start": 739
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000417",
      "geneNCBI_id": 229,
      "geneSymbol": "ALDOB",
      "hgvs": [
        "ENST00000649902.1:c.720C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497216.1:p.Cys240Ter",
        "hgvsWellDefined": "ENSP00000497216.1:p.Cys240_Thr342delinsThrLysLysTyrThrProGluGlnValAlaMetAlaThrValThrAlaLeuHisArgThrValProAlaAlaValProGlyIleCysPheLeuSerGlyGlyMetSerGluGluAspAlaThrLeuAsnLeuAsnAlaIleAsnLeuCysProLeuProLysProTrpLysLeuSerPheSerTyrGlyArgAlaLeuGlnAlaSerAlaLeuAlaAlaTrpGlyGlyLysAlaAlaAsnLysGluAlaThrGlnGluAlaPheMetLysArgAlaMetValArgCysCysHisLeuLeuSerThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770828"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 845,
          "referenceAllele": "C",
          "start": 844
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000417",
      "geneNCBI_id": 229,
      "geneSymbol": "ALDOB",
      "hgvs": [
        "ENST00000374855.8:c.720C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363988.4:p.Cys240Ter",
        "hgvsWellDefined": "ENSP00000363988.4:p.Cys240_Tyr364delinsThrLysLysTyrThrProGluGlnValAlaMetAlaThrValThrAlaLeuHisArgThrValProAlaAlaValProGlyIleCysPheLeuSerGlyGlyMetSerGluGluAspAlaThrLeuAsnLeuAsnAlaIleAsnLeuCysProLeuProLysProTrpLysLeuSerPheSerTyrGlyArgAlaLeuGlnAlaSerAlaLeuAlaAlaTrpGlyGlyLysAlaAlaAsnLysGluAlaThrGlnGluAlaPheMetLysArgAlaMetAlaAsnCysGlnAlaAlaLysGlyGlnTyrValHisThrGlySerSerGlyAlaAlaSerThrGlnSerLeuPheThrAlaCysTyrThrTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270450"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 796,
          "referenceAllele": "C",
          "start": 795
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000417",
      "geneNCBI_id": 229,
      "geneSymbol": "ALDOB",
      "hgvs": [
        "ENST00000616752.1:c.720C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481363.1:p.Cys240Ter",
        "hgvsWellDefined": "ENSP00000481363.1:p.Cys240_Leu316delinsThrLysLysTyrThrProGluGlnValAlaMetAlaThrValThrAlaLeuHisArgThrValProAlaAlaValProGlyIleCysPheLeuSerGlyGlyMetSerGluGluAspAlaThrLeuAsnLeuAsnAlaIleAsnLeuCysProLeuProLysProTrpLysLeuSerPheSerTrpValAlaArgLeuGlnThrArgArgGlnProArgArgLeuLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403187"
    },
    {
      "@id": "http://reg.genome.network/allele/PA114309",
      "coordinates": [
        {
          "allele": "A",
          "end": 802,
          "referenceAllele": "C",
          "start": 801
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000417",
      "geneNCBI_id": 229,
      "geneSymbol": "ALDOB",
      "hgvs": [
        "NM_000035.3:c.720C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000026.2:p.Cys240Ter",
        "hgvsWellDefined": "NP_000026.2:p.Cys240_Tyr364delinsThrLysLysTyrThrProGluGlnValAlaMetAlaThrValThrAlaLeuHisArgThrValProAlaAlaValProGlyIleCysPheLeuSerGlyGlyMetSerGluGluAspAlaThrLeuAsnLeuAsnAlaIleAsnLeuCysProLeuProLysProTrpLysLeuSerPheSerTyrGlyArgAlaLeuGlnAlaSerAlaLeuAlaAlaTrpGlyGlyLysAlaAlaAsnLysGluAlaThrGlnGluAlaPheMetLysArgAlaMetAlaAsnCysGlnAlaAlaLysGlyGlnTyrValHisThrGlySerSerGlyAlaAlaSerThrGlnSerLeuPheThrAlaCysTyrThrTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006100"
    },
    {
      "@id": "http://reg.genome.network/allele/PA114309",
      "coordinates": [
        {
          "allele": "A",
          "end": 796,
          "referenceAllele": "C",
          "start": 795
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000417",
      "geneNCBI_id": 229,
      "geneSymbol": "ALDOB",
      "hgvs": [
        "NM_000035.4:c.720C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000026.2:p.Cys240Ter",
        "hgvsWellDefined": "NP_000026.2:p.Cys240_Tyr364delinsThrLysLysTyrThrProGluGlnValAlaMetAlaThrValThrAlaLeuHisArgThrValProAlaAlaValProGlyIleCysPheLeuSerGlyGlyMetSerGluGluAspAlaThrLeuAsnLeuAsnAlaIleAsnLeuCysProLeuProLysProTrpLysLeuSerPheSerTyrGlyArgAlaLeuGlnAlaSerAlaLeuAlaAlaTrpGlyGlyLysAlaAlaAsnLysGluAlaThrGlnGluAlaPheMetLysArgAlaMetAlaAsnCysGlnAlaAlaLysGlyGlnTyrValHisThrGlySerSerGlyAlaAlaSerThrGlnSerLeuPheThrAlaCysTyrThrTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510739",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000647789.2:c.720C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000035.4:c.720C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000497767.1:p.Cys240Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000026.2:p.Cys240Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}