{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA374265000",
  "communityStandardTitle": [
    "NM_000035.4(ALDOB):c.612T>G (p.Tyr204Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=621289[alleleid]",
        "alleleId": 621289,
        "preferredName": "NM_000035.4(ALDOB):c.612T>G (p.Tyr204Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/632627",
        "RCV": [
          "RCV000779689"
        ],
        "variationId": 632627
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.104188849A>C?assembly=hg19",
        "id": "chr9:g.104188849A>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.101426567A>C?assembly=hg38",
        "id": "chr9:g.101426567A>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/370793608",
        "rs": 370793608
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-101426567-A-C?dataset=gnomad_r4",
        "id": "9-101426567-A-C",
        "variant": "9:101426567 A / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "C",
          "end": 101426567,
          "referenceAllele": "A",
          "start": 101426566
        }
      ],
      "hgvs": [
        "NC_000009.12:g.101426567A>C",
        "CM000671.2:g.101426567A>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "C",
          "end": 104188849,
          "referenceAllele": "A",
          "start": 104188848
        }
      ],
      "hgvs": [
        "NC_000009.11:g.104188849A>C",
        "CM000671.1:g.104188849A>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "C",
          "end": 103228670,
          "referenceAllele": "A",
          "start": 103228669
        }
      ],
      "hgvs": [
        "NC_000009.10:g.103228670A>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 14214,
          "referenceAllele": "T",
          "start": 14213
        }
      ],
      "hgvs": [
        "NG_012387.1:g.14214T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002391"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 688,
          "referenceAllele": "T",
          "start": 687
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000417",
      "geneNCBI_id": 229,
      "geneSymbol": "ALDOB",
      "hgvs": [
        "ENST00000647789.2:c.612T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497767.1:p.Tyr204Ter",
        "hgvsWellDefined": "ENSP00000497767.1:p.Tyr204_Tyr364delinsValThrGluLysValLeuAlaAlaValTyrLysAlaLeuAsnAspHisHisValTyrLeuGluGlyThrLeuLeuLysProAsnMetValThrAlaGlyHisAlaCysThrLysLysTyrThrProGluGlnValAlaMetAlaThrValThrAlaLeuHisArgThrValProAlaAlaValProGlyIleCysPheLeuSerGlyGlyMetSerGluGluAspAlaThrLeuAsnLeuAsnAlaIleAsnLeuCysProLeuProLysProTrpLysLeuSerPheSerTyrGlyArgAlaLeuGlnAlaSerAlaLeuAlaAlaTrpGlyGlyLysAlaAlaAsnLysGluAlaThrGlnGluAlaPheMetLysArgAlaMetAlaAsnCysGlnAlaAlaLysGlyGlnTyrValHisThrGlySerSerGlyAlaAlaSerThrGlnSerLeuPheThrAlaCysTyrThrTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769613",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000647789.2:c.612T>G"
          },
          "RefSeq": {
            "hgvs": "NM_000035.4:c.612T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000497767.1:p.Tyr204Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000026.2:p.Tyr204Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 759,
          "referenceAllele": "T",
          "start": 758
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000417",
      "geneNCBI_id": 229,
      "geneSymbol": "ALDOB",
      "hgvs": [
        "ENST00000648064.1:c.612T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497990.1:p.Tyr204Ter",
        "hgvsWellDefined": "ENSP00000497990.1:p.Tyr204_Tyr364delinsValThrGluLysValLeuAlaAlaValTyrLysAlaLeuAsnAspHisHisValTyrLeuGluGlyThrLeuLeuLysProAsnMetValThrAlaGlyHisAlaCysThrLysLysTyrThrProGluGlnValAlaMetAlaThrValThrAlaLeuHisArgThrValProAlaAlaValProGlyIleCysPheLeuSerGlyGlyMetSerGluGluAspAlaThrLeuAsnLeuAsnAlaIleAsnLeuCysProLeuProLysProTrpLysLeuSerPheSerTyrGlyArgAlaLeuGlnAlaSerAlaLeuAlaAlaTrpGlyGlyLysAlaAlaAsnLysGluAlaThrGlnGluAlaPheMetLysArgAlaMetAlaAsnCysGlnAlaAlaLysGlyGlnTyrValHisThrGlySerSerGlyAlaAlaSerThrGlnSerLeuPheThrAlaCysTyrThrTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769770"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 786,
          "referenceAllele": "T",
          "start": 785
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000417",
      "geneNCBI_id": 229,
      "geneSymbol": "ALDOB",
      "hgvs": [
        "ENST00000648758.1:c.612T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497731.1:p.Tyr204Ter",
        "hgvsWellDefined": "ENSP00000497731.1:p.Tyr204_Tyr364delinsValThrGluLysValLeuAlaAlaValTyrLysAlaLeuAsnAspHisHisValTyrLeuGluGlyThrLeuLeuLysProAsnMetValThrAlaGlyHisAlaCysThrLysLysTyrThrProGluGlnValAlaMetAlaThrValThrAlaLeuHisArgThrValProAlaAlaValProGlyIleCysPheLeuSerGlyGlyMetSerGluGluAspAlaThrLeuAsnLeuAsnAlaIleAsnLeuCysProLeuProLysProTrpLysLeuSerPheSerTyrGlyArgAlaLeuGlnAlaSerAlaLeuAlaAlaTrpGlyGlyLysAlaAlaAsnLysGluAlaThrGlnGluAlaPheMetLysArgAlaMetAlaAsnCysGlnAlaAlaLysGlyGlnTyrValHisThrGlySerSerGlyAlaAlaSerThrGlnSerLeuPheThrAlaCysTyrThrTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770160"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 632,
          "referenceAllele": "T",
          "start": 631
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000417",
      "geneNCBI_id": 229,
      "geneSymbol": "ALDOB",
      "hgvs": [
        "ENST00000649902.1:c.612T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497216.1:p.Tyr204Ter",
        "hgvsWellDefined": "ENSP00000497216.1:p.Tyr204_Thr342delinsValThrGluLysValLeuAlaAlaValTyrLysAlaLeuAsnAspHisHisValTyrLeuGluGlyThrLeuLeuLysProAsnMetValThrAlaGlyHisAlaCysThrLysLysTyrThrProGluGlnValAlaMetAlaThrValThrAlaLeuHisArgThrValProAlaAlaValProGlyIleCysPheLeuSerGlyGlyMetSerGluGluAspAlaThrLeuAsnLeuAsnAlaIleAsnLeuCysProLeuProLysProTrpLysLeuSerPheSerTyrGlyArgAlaLeuGlnAlaSerAlaLeuAlaAlaTrpGlyGlyLysAlaAlaAsnLysGluAlaThrGlnGluAlaPheMetLysArgAlaMetValArgCysCysHisLeuLeuSerThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770828"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 737,
          "referenceAllele": "T",
          "start": 736
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000417",
      "geneNCBI_id": 229,
      "geneSymbol": "ALDOB",
      "hgvs": [
        "ENST00000374855.8:c.612T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363988.4:p.Tyr204Ter",
        "hgvsWellDefined": "ENSP00000363988.4:p.Tyr204_Tyr364delinsValThrGluLysValLeuAlaAlaValTyrLysAlaLeuAsnAspHisHisValTyrLeuGluGlyThrLeuLeuLysProAsnMetValThrAlaGlyHisAlaCysThrLysLysTyrThrProGluGlnValAlaMetAlaThrValThrAlaLeuHisArgThrValProAlaAlaValProGlyIleCysPheLeuSerGlyGlyMetSerGluGluAspAlaThrLeuAsnLeuAsnAlaIleAsnLeuCysProLeuProLysProTrpLysLeuSerPheSerTyrGlyArgAlaLeuGlnAlaSerAlaLeuAlaAlaTrpGlyGlyLysAlaAlaAsnLysGluAlaThrGlnGluAlaPheMetLysArgAlaMetAlaAsnCysGlnAlaAlaLysGlyGlnTyrValHisThrGlySerSerGlyAlaAlaSerThrGlnSerLeuPheThrAlaCysTyrThrTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270450"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 139,
          "referenceAllele": "T",
          "start": 138
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000417",
      "geneNCBI_id": 229,
      "geneSymbol": "ALDOB",
      "hgvs": [
        "ENST00000468981.3:n.139T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS311770"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 688,
          "referenceAllele": "T",
          "start": 687
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000417",
      "geneNCBI_id": 229,
      "geneSymbol": "ALDOB",
      "hgvs": [
        "ENST00000616752.1:c.612T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481363.1:p.Tyr204Ter",
        "hgvsWellDefined": "ENSP00000481363.1:p.Tyr204_Leu316delinsValThrGluLysValLeuAlaAlaValTyrLysAlaLeuAsnAspHisHisValTyrLeuGluGlyThrLeuLeuLysProAsnMetValThrAlaGlyHisAlaCysThrLysLysTyrThrProGluGlnValAlaMetAlaThrValThrAlaLeuHisArgThrValProAlaAlaValProGlyIleCysPheLeuSerGlyGlyMetSerGluGluAspAlaThrLeuAsnLeuAsnAlaIleAsnLeuCysProLeuProLysProTrpLysLeuSerPheSerTrpValAlaArgLeuGlnThrArgArgGlnProArgArgLeuLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403187"
    },
    {
      "@id": "http://reg.genome.network/allele/PA199059",
      "coordinates": [
        {
          "allele": "G",
          "end": 694,
          "referenceAllele": "T",
          "start": 693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000417",
      "geneNCBI_id": 229,
      "geneSymbol": "ALDOB",
      "hgvs": [
        "NM_000035.3:c.612T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000026.2:p.Tyr204Ter",
        "hgvsWellDefined": "NP_000026.2:p.Tyr204_Tyr364delinsValThrGluLysValLeuAlaAlaValTyrLysAlaLeuAsnAspHisHisValTyrLeuGluGlyThrLeuLeuLysProAsnMetValThrAlaGlyHisAlaCysThrLysLysTyrThrProGluGlnValAlaMetAlaThrValThrAlaLeuHisArgThrValProAlaAlaValProGlyIleCysPheLeuSerGlyGlyMetSerGluGluAspAlaThrLeuAsnLeuAsnAlaIleAsnLeuCysProLeuProLysProTrpLysLeuSerPheSerTyrGlyArgAlaLeuGlnAlaSerAlaLeuAlaAlaTrpGlyGlyLysAlaAlaAsnLysGluAlaThrGlnGluAlaPheMetLysArgAlaMetAlaAsnCysGlnAlaAlaLysGlyGlnTyrValHisThrGlySerSerGlyAlaAlaSerThrGlnSerLeuPheThrAlaCysTyrThrTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006100"
    },
    {
      "@id": "http://reg.genome.network/allele/PA199059",
      "coordinates": [
        {
          "allele": "G",
          "end": 688,
          "referenceAllele": "T",
          "start": 687
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000417",
      "geneNCBI_id": 229,
      "geneSymbol": "ALDOB",
      "hgvs": [
        "NM_000035.4:c.612T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000026.2:p.Tyr204Ter",
        "hgvsWellDefined": "NP_000026.2:p.Tyr204_Tyr364delinsValThrGluLysValLeuAlaAlaValTyrLysAlaLeuAsnAspHisHisValTyrLeuGluGlyThrLeuLeuLysProAsnMetValThrAlaGlyHisAlaCysThrLysLysTyrThrProGluGlnValAlaMetAlaThrValThrAlaLeuHisArgThrValProAlaAlaValProGlyIleCysPheLeuSerGlyGlyMetSerGluGluAspAlaThrLeuAsnLeuAsnAlaIleAsnLeuCysProLeuProLysProTrpLysLeuSerPheSerTyrGlyArgAlaLeuGlnAlaSerAlaLeuAlaAlaTrpGlyGlyLysAlaAlaAsnLysGluAlaThrGlnGluAlaPheMetLysArgAlaMetAlaAsnCysGlnAlaAlaLysGlyGlnTyrValHisThrGlySerSerGlyAlaAlaSerThrGlnSerLeuPheThrAlaCysTyrThrTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510739",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000647789.2:c.612T>G"
          },
          "RefSeq": {
            "hgvs": "NM_000035.4:c.612T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000497767.1:p.Tyr204Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000026.2:p.Tyr204Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}