{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA378932898",
  "communityStandardTitle": [
    "NM_021008.4(DEAF1):c.674G>A (p.Gly225Glu)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1679527[alleleid]",
        "alleleId": 1679527,
        "preferredName": "NM_021008.4(DEAF1):c.674G>A (p.Gly225Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1687234",
        "RCV": [
          "RCV002250916"
        ],
        "variationId": 1687234
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.686988C>T?assembly=hg19",
        "id": "chr11:g.686988C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.686988C>T?assembly=hg38",
        "id": "chr11:g.686988C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2133402741",
        "rs": 2133402741
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 686988,
          "referenceAllele": "C",
          "start": 686987
        }
      ],
      "hgvs": [
        "NC_000011.10:g.686988C>T",
        "CM000673.2:g.686988C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 686988,
          "referenceAllele": "C",
          "start": 686987
        }
      ],
      "hgvs": [
        "NC_000011.9:g.686988C>T",
        "CM000673.1:g.686988C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 676988,
          "referenceAllele": "C",
          "start": 676987
        }
      ],
      "hgvs": [
        "NC_000011.8:g.676988C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 13767,
          "referenceAllele": "G",
          "start": 13766
        }
      ],
      "hgvs": [
        "NG_034156.1:g.13767G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005784"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 25096,
          "referenceAllele": "G",
          "start": 25095
        }
      ],
      "hgvs": [
        "NG_034156.2:g.25096G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673897"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 559,
          "referenceAllele": "G",
          "start": 558
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014677",
      "geneNCBI_id": 10522,
      "geneSymbol": "DEAF1",
      "hgvs": [
        "ENST00000525626.6:n.559G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825710"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 560,
          "referenceAllele": "G",
          "start": 559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014677",
      "geneNCBI_id": 10522,
      "geneSymbol": "DEAF1",
      "hgvs": [
        "ENST00000528864.6:n.560G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825760"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 638,
          "referenceAllele": "G",
          "start": 637
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014677",
      "geneNCBI_id": 10522,
      "geneSymbol": "DEAF1",
      "hgvs": [
        "ENST00000529717.6:c.*379G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000432518.2:n.*379G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825773"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 695,
          "referenceAllele": "G",
          "start": 694
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014677",
      "geneNCBI_id": 10522,
      "geneSymbol": "DEAF1",
      "hgvs": [
        "ENST00000530813.2:c.*297G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508507.1:n.*297G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825795"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 434,
          "referenceAllele": "G",
          "start": 433
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014677",
      "geneNCBI_id": 10522,
      "geneSymbol": "DEAF1",
      "hgvs": [
        "ENST00000682936.1:n.434G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827924"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 932,
          "referenceAllele": "G",
          "start": 931
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014677",
      "geneNCBI_id": 10522,
      "geneSymbol": "DEAF1",
      "hgvs": [
        "ENST00000683307.1:c.-53G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507198.1:n.-53G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828288"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 862,
          "referenceAllele": "G",
          "start": 861
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014677",
      "geneNCBI_id": 10522,
      "geneSymbol": "DEAF1",
      "hgvs": [
        "ENST00000684249.1:n.862G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829206"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 668,
          "referenceAllele": "G",
          "start": 667
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014677",
      "geneNCBI_id": 10522,
      "geneSymbol": "DEAF1",
      "hgvs": [
        "ENST00000685854.1:c.470G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508801.1:p.Gly157Glu",
        "hgvsWellDefined": "ENSP00000508801.1:p.Gly157Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830279"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 668,
          "referenceAllele": "G",
          "start": 667
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014677",
      "geneNCBI_id": 10522,
      "geneSymbol": "DEAF1",
      "hgvs": [
        "ENST00000686001.1:c.470G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508459.1:p.Gly157Glu",
        "hgvsWellDefined": "ENSP00000508459.1:p.Gly157Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830347"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 668,
          "referenceAllele": "G",
          "start": 667
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014677",
      "geneNCBI_id": 10522,
      "geneSymbol": "DEAF1",
      "hgvs": [
        "ENST00000687329.1:c.470G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510598.1:p.Gly157Glu",
        "hgvsWellDefined": "ENSP00000510598.1:p.Gly157Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831036"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 668,
          "referenceAllele": "G",
          "start": 667
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014677",
      "geneNCBI_id": 10522,
      "geneSymbol": "DEAF1",
      "hgvs": [
        "ENST00000689835.1:c.470G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510621.1:p.Gly157Glu",
        "hgvsWellDefined": "ENSP00000510621.1:p.Gly157Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832394"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 668,
          "referenceAllele": "G",
          "start": 667
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014677",
      "geneNCBI_id": 10522,
      "geneSymbol": "DEAF1",
      "hgvs": [
        "ENST00000690068.1:c.470G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509089.1:p.Gly157Glu",
        "hgvsWellDefined": "ENSP00000509089.1:p.Gly157Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832522"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 668,
          "referenceAllele": "G",
          "start": 667
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014677",
      "geneNCBI_id": 10522,
      "geneSymbol": "DEAF1",
      "hgvs": [
        "ENST00000692634.1:c.470G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508859.1:p.Gly157Glu",
        "hgvsWellDefined": "ENSP00000508859.1:p.Gly157Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833802"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 668,
          "referenceAllele": "G",
          "start": 667
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014677",
      "geneNCBI_id": 10522,
      "geneSymbol": "DEAF1",
      "hgvs": [
        "ENST00000693164.1:n.668G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS834095"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 849,
          "referenceAllele": "G",
          "start": 848
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014677",
      "geneNCBI_id": 10522,
      "geneSymbol": "DEAF1",
      "hgvs": [
        "ENST00000382409.4:c.674G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371846.3:p.Gly225Glu",
        "hgvsWellDefined": "ENSP00000371846.3:p.Gly225Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752657",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000382409.4:c.674G>A"
          },
          "RefSeq": {
            "hgvs": "NM_021008.4:c.674G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000371846.3:p.Gly225Glu"
          },
          "RefSeq": {
            "hgvs": "NP_066288.2:p.Gly225Glu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1159,
          "referenceAllele": "G",
          "start": 1158
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014677",
      "geneNCBI_id": 10522,
      "geneSymbol": "DEAF1",
      "hgvs": [
        "ENST00000382409.3:c.674G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371846.3:p.Gly225Glu",
        "hgvsWellDefined": "ENSP00000371846.3:p.Gly225Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273739"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 529,
          "referenceAllele": "G",
          "start": 528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014677",
      "geneNCBI_id": 10522,
      "geneSymbol": "DEAF1",
      "hgvs": [
        "ENST00000525626.5:n.529G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS351618"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 36,
          "referenceAllele": "G",
          "start": 35
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014677",
      "geneNCBI_id": 10522,
      "geneSymbol": "DEAF1",
      "hgvs": [
        "ENST00000527170.5:c.36G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS352921"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 541,
          "referenceAllele": "G",
          "start": 540
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014677",
      "geneNCBI_id": 10522,
      "geneSymbol": "DEAF1",
      "hgvs": [
        "ENST00000528864.5:n.541G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS354339"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 638,
          "referenceAllele": "G",
          "start": 637
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014677",
      "geneNCBI_id": 10522,
      "geneSymbol": "DEAF1",
      "hgvs": [
        "ENST00000529717.5:c.638G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS355081"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1371,
          "endIntronDirection": "+",
          "endIntronOffset": 923,
          "referenceAllele": "G",
          "start": 1371,
          "startIntronDirection": "+",
          "startIntronOffset": 922
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014677",
      "geneNCBI_id": 10522,
      "geneSymbol": "DEAF1",
      "hgvs": [
        "NM_001293634.1:c.664+923G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001280563.1:n.664+923G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024541"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573276797",
      "coordinates": [
        {
          "allele": "A",
          "end": 1381,
          "referenceAllele": "G",
          "start": 1380
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014677",
      "geneNCBI_id": 10522,
      "geneSymbol": "DEAF1",
      "hgvs": [
        "NM_021008.3:c.674G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_066288.2:p.Gly225Glu",
        "hgvsWellDefined": "NP_066288.2:p.Gly225Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036762"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 680,
          "referenceAllele": "G",
          "start": 679
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014677",
      "geneNCBI_id": 10522,
      "geneSymbol": "DEAF1",
      "hgvs": [
        "XM_011519842.1:c.674G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518144.1:p.Gly225Glu",
        "hgvsWellDefined": "XP_011518144.1:p.Gly225Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087012"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 680,
          "referenceAllele": "G",
          "start": 679
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014677",
      "geneNCBI_id": 10522,
      "geneSymbol": "DEAF1",
      "hgvs": [
        "XM_011519843.1:c.674G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518145.1:p.Gly225Glu",
        "hgvsWellDefined": "XP_011518145.1:p.Gly225Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087013"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 680,
          "referenceAllele": "G",
          "start": 679
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014677",
      "geneNCBI_id": 10522,
      "geneSymbol": "DEAF1",
      "hgvs": [
        "XR_428838.2:n.680G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS118183"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 680,
          "referenceAllele": "G",
          "start": 679
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014677",
      "geneNCBI_id": 10522,
      "geneSymbol": "DEAF1",
      "hgvs": [
        "XR_930843.1:n.680G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS126970"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 830,
          "referenceAllele": "G",
          "start": 829
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014677",
      "geneNCBI_id": 10522,
      "geneSymbol": "DEAF1",
      "hgvs": [
        "XM_011519842.3:c.674G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518144.1:p.Gly225Glu",
        "hgvsWellDefined": "XP_011518144.1:p.Gly225Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545498"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 830,
          "referenceAllele": "G",
          "start": 829
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014677",
      "geneNCBI_id": 10522,
      "geneSymbol": "DEAF1",
      "hgvs": [
        "XM_024448325.1:c.674G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024304093.1:p.Gly225Glu",
        "hgvsWellDefined": "XP_024304093.1:p.Gly225Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS581899"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 830,
          "referenceAllele": "G",
          "start": 829
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014677",
      "geneNCBI_id": 10522,
      "geneSymbol": "DEAF1",
      "hgvs": [
        "XM_024448326.1:c.674G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024304094.1:p.Gly225Glu",
        "hgvsWellDefined": "XP_024304094.1:p.Gly225Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS581900"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 830,
          "referenceAllele": "G",
          "start": 829
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014677",
      "geneNCBI_id": 10522,
      "geneSymbol": "DEAF1",
      "hgvs": [
        "XM_024448327.1:c.674G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024304095.1:p.Gly225Glu",
        "hgvsWellDefined": "XP_024304095.1:p.Gly225Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS581901"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 897,
          "referenceAllele": "G",
          "start": 896
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014677",
      "geneNCBI_id": 10522,
      "geneSymbol": "DEAF1",
      "hgvs": [
        "NM_001367390.1:c.-53G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001354319.1:n.-53G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS664553"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573276797",
      "coordinates": [
        {
          "allele": "A",
          "end": 849,
          "referenceAllele": "G",
          "start": 848
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014677",
      "geneNCBI_id": 10522,
      "geneSymbol": "DEAF1",
      "hgvs": [
        "NM_021008.4:c.674G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_066288.2:p.Gly225Glu",
        "hgvsWellDefined": "NP_066288.2:p.Gly225Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698349",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000382409.4:c.674G>A"
          },
          "RefSeq": {
            "hgvs": "NM_021008.4:c.674G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000371846.3:p.Gly225Glu"
          },
          "RefSeq": {
            "hgvs": "NP_066288.2:p.Gly225Glu"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}