{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2299520",
  "communityStandardTitle": [
    "NM_000404.4(GLB1):c.1038G>T (p.Lys346Asn)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=543186[alleleid]",
        "alleleId": 543186,
        "preferredName": "NM_000404.4(GLB1):c.1038G>T (p.Lys346Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/558213",
        "RCV": [
          "RCV000674446",
          "RCV001855609",
          "RCV002271564"
        ],
        "variationId": 558213
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/3-33087642-C-A",
        "id": "3-33087642-C-A",
        "variant": "3:33087642 C / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.33087642C>A?assembly=hg19",
        "id": "chr3:g.33087642C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.33046150C>A?assembly=hg38",
        "id": "chr3:g.33046150C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/749980306",
        "rs": 749980306
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-33087642-C-A?dataset=gnomad_r2_1",
        "id": "3-33087642-C-A",
        "variant": "3:33087642 C / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-33046150-C-A?dataset=gnomad_r3",
        "id": "3-33046150-C-A",
        "variant": "3:33046150 C / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-33046150-C-A?dataset=gnomad_r4",
        "id": "3-33046150-C-A",
        "variant": "3:33046150 C / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 33046150,
          "referenceAllele": "C",
          "start": 33046149
        }
      ],
      "hgvs": [
        "NC_000003.12:g.33046150C>A",
        "CM000665.2:g.33046150C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 33087642,
          "referenceAllele": "C",
          "start": 33087641
        }
      ],
      "hgvs": [
        "NC_000003.11:g.33087642C>A",
        "CM000665.1:g.33087642C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 33062646,
          "referenceAllele": "C",
          "start": 33062645
        }
      ],
      "hgvs": [
        "NC_000003.10:g.33062646C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 56053,
          "referenceAllele": "G",
          "start": 56052
        }
      ],
      "hgvs": [
        "NG_009005.1:g.56053G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001373"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1099,
          "referenceAllele": "G",
          "start": 1098
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "ENST00000307363.10:c.1038G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000306920.4:p.Lys346Asn",
        "hgvsWellDefined": "ENSP00000306920.4:p.Lys346Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745364",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000307363.10:c.1038G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000404.4:c.1038G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000306920.4:p.Lys346Asn"
          },
          "RefSeq": {
            "hgvs": "NP_000395.3:p.Lys346Asn"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1183,
          "referenceAllele": "G",
          "start": 1182
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "ENST00000307363.9:c.1038G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000306920.4:p.Lys346Asn",
        "hgvsWellDefined": "ENSP00000306920.4:p.Lys346Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255876"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 706,
          "referenceAllele": "G",
          "start": 705
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "ENST00000307377.12:c.645G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000305920.8:p.Lys215Asn",
        "hgvsWellDefined": "ENSP00000305920.8:p.Lys215Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255881"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1080,
          "referenceAllele": "G",
          "start": 1079
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "ENST00000399402.7:c.948G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000382333.2:p.Lys316Asn",
        "hgvsWellDefined": "ENSP00000382333.2:p.Lys316Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278664"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 413,
          "referenceAllele": "G",
          "start": 412
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "ENST00000482097.5:n.413G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS321877"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 441,
          "referenceAllele": "G",
          "start": 440
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "ENST00000485698.5:n.441G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS324665"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 43,
          "referenceAllele": "G",
          "start": 42
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "ENST00000490658.2:n.43G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS328422"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 564,
          "referenceAllele": "G",
          "start": 563
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "ENST00000498537.5:n.564G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS334527"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658826736",
      "coordinates": [
        {
          "allele": "T",
          "end": 1155,
          "referenceAllele": "G",
          "start": 1154
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "NM_000404.2:c.1038G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000395.2:p.Lys346Asn",
        "hgvsWellDefined": "NP_000395.2:p.Lys346Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006465"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658826736",
      "coordinates": [
        {
          "allele": "T",
          "end": 1183,
          "referenceAllele": "G",
          "start": 1182
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "NM_000404.3:c.1038G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000395.2:p.Lys346Asn",
        "hgvsWellDefined": "NP_000395.2:p.Lys346Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006466"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1067,
          "referenceAllele": "G",
          "start": 1066
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "NM_001079811.1:c.948G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073279.1:p.Lys316Asn",
        "hgvsWellDefined": "NP_001073279.1:p.Lys316Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010094"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1077,
          "referenceAllele": "G",
          "start": 1076
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "NM_001079811.2:c.948G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073279.1:p.Lys316Asn",
        "hgvsWellDefined": "NP_001073279.1:p.Lys316Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010095"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 762,
          "referenceAllele": "G",
          "start": 761
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "NM_001135602.1:c.645G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129074.1:p.Lys215Asn",
        "hgvsWellDefined": "NP_001129074.1:p.Lys215Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012431"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 790,
          "referenceAllele": "G",
          "start": 789
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "NM_001135602.2:c.645G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129074.1:p.Lys215Asn",
        "hgvsWellDefined": "NP_001129074.1:p.Lys215Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012432"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916021896",
      "coordinates": [
        {
          "allele": "T",
          "end": 1327,
          "referenceAllele": "G",
          "start": 1326
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "NM_001317040.1:c.1182G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001303969.1:p.Lys394Asn",
        "hgvsWellDefined": "NP_001303969.1:p.Lys394Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026699"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825162553",
      "coordinates": [
        {
          "allele": "T",
          "end": 1099,
          "referenceAllele": "G",
          "start": 1098
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "NM_000404.4:c.1038G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000395.3:p.Lys346Asn",
        "hgvsWellDefined": "NP_000395.3:p.Lys346Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662429",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000307363.10:c.1038G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000404.4:c.1038G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000306920.4:p.Lys346Asn"
          },
          "RefSeq": {
            "hgvs": "NP_000395.3:p.Lys346Asn"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825444897",
      "coordinates": [
        {
          "allele": "T",
          "end": 1067,
          "referenceAllele": "G",
          "start": 1066
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "NM_001079811.3:c.948G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073279.2:p.Lys316Asn",
        "hgvsWellDefined": "NP_001073279.2:p.Lys316Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711783"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825794225",
      "coordinates": [
        {
          "allele": "T",
          "end": 706,
          "referenceAllele": "G",
          "start": 705
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "NM_001135602.3:c.645G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129074.2:p.Lys215Asn",
        "hgvsWellDefined": "NP_001129074.2:p.Lys215Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712445"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573070139",
      "coordinates": [
        {
          "allele": "T",
          "end": 1243,
          "referenceAllele": "G",
          "start": 1242
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "NM_001317040.2:c.1182G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001303969.2:p.Lys394Asn",
        "hgvsWellDefined": "NP_001303969.2:p.Lys394Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717394"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829206033",
      "coordinates": [
        {
          "allele": "T",
          "end": 1099,
          "referenceAllele": "G",
          "start": 1098
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "NM_001393580.1:c.1038G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001380509.1:p.Lys346Asn",
        "hgvsWellDefined": "NP_001380509.1:p.Lys346Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS726736"
    }
  ],
  "type": "nucleotide"
}