{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA5835332",
  "communityStandardTitle": [
    "NM_001004752.2(OR51F1):c.100G>T (p.Val34Phe)",
    "NM_021801.5(MMP26):c.-145+2498C>A"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2207459[alleleid]",
        "alleleId": 2207459,
        "preferredName": "NM_001004752.2(OR51F1):c.100G>T (p.Val34Phe)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2221441",
        "RCV": [
          "RCV004089943"
        ],
        "variationId": 2221441
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/11-4791069-C-A",
        "id": "11-4791069-C-A",
        "variant": "11:4791069 C / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.4791069C>A?assembly=hg19",
        "id": "chr11:g.4791069C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.4769839C>A?assembly=hg38",
        "id": "chr11:g.4769839C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/149434362",
        "rs": 149434362
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-4791069-C-A?dataset=gnomad_r2_1",
        "id": "11-4791069-C-A",
        "variant": "11:4791069 C / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-4769839-C-A?dataset=gnomad_r3",
        "id": "11-4769839-C-A",
        "variant": "11:4769839 C / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-4769839-C-A?dataset=gnomad_r4",
        "id": "11-4769839-C-A",
        "variant": "11:4769839 C / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 4769839,
          "referenceAllele": "C",
          "start": 4769838
        }
      ],
      "hgvs": [
        "NC_000011.10:g.4769839C>A",
        "CM000673.2:g.4769839C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 4791069,
          "referenceAllele": "C",
          "start": 4791068
        }
      ],
      "hgvs": [
        "NC_000011.9:g.4791069C>A",
        "CM000673.1:g.4791069C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 4747645,
          "referenceAllele": "C",
          "start": 4747644
        }
      ],
      "hgvs": [
        "NC_000011.8:g.4747645C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 191,
          "endIntronDirection": "+",
          "endIntronOffset": 2498,
          "referenceAllele": "C",
          "start": 191,
          "startIntronDirection": "+",
          "startIntronOffset": 2497
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014249",
      "geneNCBI_id": 56547,
      "geneSymbol": "MMP26",
      "hgvs": [
        "ENST00000300762.2:c.-153+2498C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000300762.2:n.-153+2498C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS823739"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 334,
          "endIntronDirection": "+",
          "endIntronOffset": 2498,
          "referenceAllele": "C",
          "start": 334,
          "startIntronDirection": "+",
          "startIntronOffset": 2497
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014249",
      "geneNCBI_id": 56547,
      "geneSymbol": "MMP26",
      "hgvs": [
        "ENST00000380390.6:c.-145+2498C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369753.1:n.-145+2498C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824386",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000380390.6:c.-145+2498C>A"
          },
          "RefSeq": {
            "hgvs": "NM_021801.5:c.-145+2498C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000369753.1:n.-145+2498C>A"
          },
          "RefSeq": {
            "hgvs": "NP_068573.2:n.-145+2498C>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 100,
          "referenceAllele": "G",
          "start": 99
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015196",
      "geneNCBI_id": 256892,
      "geneSymbol": "OR51F1",
      "hgvs": [
        "ENST00000624103.2:c.100G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000485387.2:p.Val34Phe",
        "hgvsWellDefined": "ENSP00000485387.2:p.Val34Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826593",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000624103.2:c.100G>T"
          },
          "RefSeq": {
            "hgvs": "NM_001004752.2:c.100G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000485387.2:p.Val34Phe"
          },
          "RefSeq": {
            "hgvs": "NP_001004752.2:p.Val34Phe"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 79,
          "referenceAllele": "G",
          "start": 78
        }
      ],
      "hgvs": [
        "ENST00000343430.3:c.79G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000345163.3:p.Val27Phe",
        "hgvsWellDefined": "ENSP00000345163.3:p.Val27Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261762"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 100,
          "referenceAllele": "G",
          "start": 99
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015196",
      "geneNCBI_id": 256892,
      "geneSymbol": "OR51F1",
      "hgvs": [
        "ENST00000380383.1:c.100G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369744.1:p.Val34Phe",
        "hgvsWellDefined": "ENSP00000369744.1:p.Val34Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272905"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 72,
          "endIntronDirection": "+",
          "endIntronOffset": 2498,
          "referenceAllele": "C",
          "start": 72,
          "startIntronDirection": "+",
          "startIntronOffset": 2497
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014249",
      "geneNCBI_id": 56547,
      "geneSymbol": "MMP26",
      "hgvs": [
        "ENST00000380390.5:c.-145+2498C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369753.1:n.-145+2498C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272908"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 191,
          "endIntronDirection": "+",
          "endIntronOffset": 2498,
          "referenceAllele": "C",
          "start": 191,
          "startIntronDirection": "+",
          "startIntronOffset": 2497
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014249",
      "geneNCBI_id": 56547,
      "geneSymbol": "MMP26",
      "hgvs": [
        "ENST00000477339.5:n.191+2498C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS318178"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 79,
          "referenceAllele": "G",
          "start": 78
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015196",
      "geneNCBI_id": 256892,
      "geneSymbol": "OR51F1",
      "hgvs": [
        "ENST00000624103.1:c.79G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000485387.1:p.Val27Phe",
        "hgvsWellDefined": "ENSP00000485387.1:p.Val27Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS406250"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 79,
          "referenceAllele": "G",
          "start": 78
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015196",
      "geneNCBI_id": 256892,
      "geneSymbol": "OR51F1",
      "hgvs": [
        "NM_001004752.1:c.79G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001004752.1:p.Val27Phe",
        "hgvsWellDefined": "NP_001004752.1:p.Val27Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007572"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580125146",
      "coordinates": [
        {
          "allele": "T",
          "end": 100,
          "referenceAllele": "G",
          "start": 99
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015196",
      "geneNCBI_id": 256892,
      "geneSymbol": "OR51F1",
      "hgvs": [
        "NM_001004752.2:c.100G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001004752.2:p.Val34Phe",
        "hgvsWellDefined": "NP_001004752.2:p.Val34Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662772",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000624103.2:c.100G>T"
          },
          "RefSeq": {
            "hgvs": "NM_001004752.2:c.100G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000485387.2:p.Val34Phe"
          },
          "RefSeq": {
            "hgvs": "NP_001004752.2:p.Val34Phe"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 334,
          "endIntronDirection": "+",
          "endIntronOffset": 2498,
          "referenceAllele": "C",
          "start": 334,
          "startIntronDirection": "+",
          "startIntronOffset": 2497
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014249",
      "geneNCBI_id": 56547,
      "geneSymbol": "MMP26",
      "hgvs": [
        "NM_001384608.1:c.-153+2498C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001371537.1:n.-153+2498C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS723003"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 334,
          "endIntronDirection": "+",
          "endIntronOffset": 2498,
          "referenceAllele": "C",
          "start": 334,
          "startIntronDirection": "+",
          "startIntronOffset": 2497
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014249",
      "geneNCBI_id": 56547,
      "geneSymbol": "MMP26",
      "hgvs": [
        "NM_021801.5:c.-145+2498C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_068573.2:n.-145+2498C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728541",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000380390.6:c.-145+2498C>A"
          },
          "RefSeq": {
            "hgvs": "NM_021801.5:c.-145+2498C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000369753.1:n.-145+2498C>A"
          },
          "RefSeq": {
            "hgvs": "NP_068573.2:n.-145+2498C>A"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}