{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA5161480",
  "communityStandardTitle": [
    "NM_000035.4(ALDOB):c.770T>C (p.Leu257Pro)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1054199[alleleid]",
        "alleleId": 1054199,
        "preferredName": "NM_000035.4(ALDOB):c.770T>C (p.Leu257Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1065855",
        "RCV": [
          "RCV001376709"
        ],
        "variationId": 1065855
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/9-104187764-A-G",
        "id": "9-104187764-A-G",
        "variant": "9:104187764 A / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.104187764A>G?assembly=hg19",
        "id": "chr9:g.104187764A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.101425482A>G?assembly=hg38",
        "id": "chr9:g.101425482A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/764701775",
        "rs": 764701775
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-104187764-A-G?dataset=gnomad_r2_1",
        "id": "9-104187764-A-G",
        "variant": "9:104187764 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-101425482-A-G?dataset=gnomad_r4",
        "id": "9-101425482-A-G",
        "variant": "9:101425482 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 101425482,
          "referenceAllele": "A",
          "start": 101425481
        }
      ],
      "hgvs": [
        "NC_000009.12:g.101425482A>G",
        "CM000671.2:g.101425482A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 104187764,
          "referenceAllele": "A",
          "start": 104187763
        }
      ],
      "hgvs": [
        "NC_000009.11:g.104187764A>G",
        "CM000671.1:g.104187764A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 103227585,
          "referenceAllele": "A",
          "start": 103227584
        }
      ],
      "hgvs": [
        "NC_000009.10:g.103227585A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 15299,
          "referenceAllele": "T",
          "start": 15298
        }
      ],
      "hgvs": [
        "NG_012387.1:g.15299T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002391"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 846,
          "referenceAllele": "T",
          "start": 845
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000417",
      "geneNCBI_id": 229,
      "geneSymbol": "ALDOB",
      "hgvs": [
        "ENST00000647789.2:c.770T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497767.1:p.Leu257Pro",
        "hgvsWellDefined": "ENSP00000497767.1:p.Leu257Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769613",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000647789.2:c.770T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000035.4:c.770T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000497767.1:p.Leu257Pro"
          },
          "RefSeq": {
            "hgvs": "NP_000026.2:p.Leu257Pro"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 917,
          "referenceAllele": "T",
          "start": 916
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000417",
      "geneNCBI_id": 229,
      "geneSymbol": "ALDOB",
      "hgvs": [
        "ENST00000648064.1:c.770T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497990.1:p.Leu257Pro",
        "hgvsWellDefined": "ENSP00000497990.1:p.Leu257Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769770"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 944,
          "referenceAllele": "T",
          "start": 943
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000417",
      "geneNCBI_id": 229,
      "geneSymbol": "ALDOB",
      "hgvs": [
        "ENST00000648758.1:c.770T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497731.1:p.Leu257Pro",
        "hgvsWellDefined": "ENSP00000497731.1:p.Leu257Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770160"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 790,
          "referenceAllele": "T",
          "start": 789
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000417",
      "geneNCBI_id": 229,
      "geneSymbol": "ALDOB",
      "hgvs": [
        "ENST00000649902.1:c.770T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497216.1:p.Leu257Pro",
        "hgvsWellDefined": "ENSP00000497216.1:p.Leu257Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770828"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 895,
          "referenceAllele": "T",
          "start": 894
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000417",
      "geneNCBI_id": 229,
      "geneSymbol": "ALDOB",
      "hgvs": [
        "ENST00000374855.8:c.770T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363988.4:p.Leu257Pro",
        "hgvsWellDefined": "ENSP00000363988.4:p.Leu257Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270450"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 846,
          "referenceAllele": "T",
          "start": 845
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000417",
      "geneNCBI_id": 229,
      "geneSymbol": "ALDOB",
      "hgvs": [
        "ENST00000616752.1:c.770T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481363.1:p.Leu257Pro",
        "hgvsWellDefined": "ENSP00000481363.1:p.Leu257Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403187"
    },
    {
      "@id": "http://reg.genome.network/allele/PA091513",
      "coordinates": [
        {
          "allele": "C",
          "end": 852,
          "referenceAllele": "T",
          "start": 851
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000417",
      "geneNCBI_id": 229,
      "geneSymbol": "ALDOB",
      "hgvs": [
        "NM_000035.3:c.770T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000026.2:p.Leu257Pro",
        "hgvsWellDefined": "NP_000026.2:p.Leu257Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006100"
    },
    {
      "@id": "http://reg.genome.network/allele/PA091513",
      "coordinates": [
        {
          "allele": "C",
          "end": 846,
          "referenceAllele": "T",
          "start": 845
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000417",
      "geneNCBI_id": 229,
      "geneSymbol": "ALDOB",
      "hgvs": [
        "NM_000035.4:c.770T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000026.2:p.Leu257Pro",
        "hgvsWellDefined": "NP_000026.2:p.Leu257Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510739",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000647789.2:c.770T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000035.4:c.770T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000497767.1:p.Leu257Pro"
          },
          "RefSeq": {
            "hgvs": "NP_000026.2:p.Leu257Pro"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}