{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA5056560",
  "communityStandardTitle": [
    "NM_005476.7(GNE):c.1132G>T (p.Asp378Tyr)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "active": false,
        "id": "COSM4640922"
      },
      {
        "active": false,
        "id": "COSM4640923"
      },
      {
        "active": false,
        "id": "COSM4640924"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=267515[alleleid]",
        "alleleId": 267515,
        "preferredName": "NM_005476.7(GNE):c.1132G>T (p.Asp378Tyr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/283278",
        "RCV": [
          "RCV000484722",
          "RCV000596066",
          "RCV000707707",
          "RCV001165685",
          "RCV004021128"
        ],
        "variationId": 283278
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/9-36227394-C-A",
        "id": "9-36227394-C-A",
        "variant": "9:36227394 C / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.36227394C>A?assembly=hg19",
        "id": "chr9:g.36227394C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.36227397C>A?assembly=hg38",
        "id": "chr9:g.36227397C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/199877522",
        "rs": 199877522
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-36227394-C-A?dataset=gnomad_r2_1",
        "id": "9-36227394-C-A",
        "variant": "9:36227394 C / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-36227397-C-A?dataset=gnomad_r3",
        "id": "9-36227397-C-A",
        "variant": "9:36227397 C / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-36227397-C-A?dataset=gnomad_r4",
        "id": "9-36227397-C-A",
        "variant": "9:36227397 C / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "A",
          "end": 36227397,
          "referenceAllele": "C",
          "start": 36227396
        }
      ],
      "hgvs": [
        "NC_000009.12:g.36227397C>A",
        "CM000671.2:g.36227397C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "A",
          "end": 36227394,
          "referenceAllele": "C",
          "start": 36227393
        }
      ],
      "hgvs": [
        "NC_000009.11:g.36227394C>A",
        "CM000671.1:g.36227394C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "A",
          "end": 36217394,
          "referenceAllele": "C",
          "start": 36217393
        }
      ],
      "hgvs": [
        "NC_000009.10:g.36217394C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 54648,
          "referenceAllele": "G",
          "start": 54647
        }
      ],
      "hgvs": [
        "NG_008246.1:g.54648G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000977"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1259,
          "referenceAllele": "G",
          "start": 1258
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "ENST00000396594.8:c.1225G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379839.3:p.Asp409Tyr",
        "hgvsWellDefined": "ENSP00000379839.3:p.Asp409Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753539",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000396594.8:c.1225G>T"
          },
          "RefSeq": {
            "hgvs": "NM_001128227.3:c.1225G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000379839.3:p.Asp409Tyr"
          },
          "RefSeq": {
            "hgvs": "NP_001121699.1:p.Asp409Tyr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1117,
          "referenceAllele": "G",
          "start": 1116
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "ENST00000543356.7:c.955G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437765.3:p.Asp319Tyr",
        "hgvsWellDefined": "ENSP00000437765.3:p.Asp319Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759730"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1302,
          "referenceAllele": "G",
          "start": 1301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "ENST00000642385.2:c.1132G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494141.2:p.Asp378Tyr",
        "hgvsWellDefined": "ENSP00000494141.2:p.Asp378Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766712",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000642385.2:c.1132G>T"
          },
          "RefSeq": {
            "hgvs": "NM_005476.7:c.1132G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000494141.2:p.Asp378Tyr"
          },
          "RefSeq": {
            "hgvs": "NP_005467.1:p.Asp378Tyr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1353,
          "referenceAllele": "G",
          "start": 1352
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "ENST00000377902.5:c.1132G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367134.4:p.Asp378Tyr",
        "hgvsWellDefined": "ENSP00000367134.4:p.Asp378Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271797"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1337,
          "referenceAllele": "G",
          "start": 1336
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "ENST00000396594.7:c.1225G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379839.3:p.Asp409Tyr",
        "hgvsWellDefined": "ENSP00000379839.3:p.Asp409Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277344"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1183,
          "referenceAllele": "G",
          "start": 1182
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "ENST00000447283.6:c.1132G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000414760.2:p.Asp378Tyr",
        "hgvsWellDefined": "ENSP00000414760.2:p.Asp378Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299151"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 611,
          "endIntronDirection": "+",
          "endIntronOffset": 23218,
          "referenceAllele": "C",
          "start": 611,
          "startIntronDirection": "+",
          "startIntronOffset": 23217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002090",
      "geneNCBI_id": 1211,
      "geneSymbol": "CLTA",
      "hgvs": [
        "ENST00000464497.5:c.485+23218C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419158.1:n.485+23218C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS308313"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 940,
          "referenceAllele": "G",
          "start": 939
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "ENST00000539208.5:c.802G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000445117.1:p.Asp268Tyr",
        "hgvsWellDefined": "ENSP00000445117.1:p.Asp268Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS361731"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1173,
          "referenceAllele": "G",
          "start": 1172
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "ENST00000539815.5:c.1132G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000439155.1:p.Asp378Tyr",
        "hgvsWellDefined": "ENSP00000439155.1:p.Asp378Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362067"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1117,
          "referenceAllele": "G",
          "start": 1116
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "ENST00000543356.6:c.1117G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437765.2:p.Asp373Tyr",
        "hgvsWellDefined": "ENSP00000437765.2:p.Asp373Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363956"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645423793",
      "coordinates": [
        {
          "allele": "T",
          "end": 1337,
          "referenceAllele": "G",
          "start": 1336
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "NM_001128227.2:c.1225G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121699.1:p.Asp409Tyr",
        "hgvsWellDefined": "NP_001121699.1:p.Asp409Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011763"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826157647",
      "coordinates": [
        {
          "allele": "T",
          "end": 1353,
          "referenceAllele": "G",
          "start": 1352
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "NM_001190383.1:c.1132G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001177312.1:p.Asp378Tyr",
        "hgvsWellDefined": "NP_001177312.1:p.Asp378Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016168"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826158078",
      "coordinates": [
        {
          "allele": "T",
          "end": 994,
          "referenceAllele": "G",
          "start": 993
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "NM_001190384.1:c.802G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001177313.1:p.Asp268Tyr",
        "hgvsWellDefined": "NP_001177313.1:p.Asp268Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016169"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1131,
          "referenceAllele": "G",
          "start": 1130
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "NM_001190388.1:c.1117G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001177317.1:p.Asp373Tyr",
        "hgvsWellDefined": "NP_001177317.1:p.Asp373Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016170"
    },
    {
      "@id": "http://reg.genome.network/allele/PA103046",
      "coordinates": [
        {
          "allele": "T",
          "end": 1353,
          "referenceAllele": "G",
          "start": 1352
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "NM_005476.5:c.1132G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005467.1:p.Asp378Tyr",
        "hgvsWellDefined": "NP_005467.1:p.Asp378Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030569"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1184,
          "referenceAllele": "G",
          "start": 1183
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "XM_005251334.3:c.1072G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251391.1:p.Asp358Tyr",
        "hgvsWellDefined": "XP_005251391.1:p.Asp358Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059507"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826157647",
      "coordinates": [
        {
          "allele": "T",
          "end": 1302,
          "referenceAllele": "G",
          "start": 1301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "NM_001190383.2:c.1132G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001177312.1:p.Asp378Tyr",
        "hgvsWellDefined": "NP_001177312.1:p.Asp378Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511761"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826158078",
      "coordinates": [
        {
          "allele": "T",
          "end": 943,
          "referenceAllele": "G",
          "start": 942
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "NM_001190384.2:c.802G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001177313.1:p.Asp268Tyr",
        "hgvsWellDefined": "NP_001177313.1:p.Asp268Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511762"
    },
    {
      "@id": "http://reg.genome.network/allele/PA103046",
      "coordinates": [
        {
          "allele": "T",
          "end": 1302,
          "referenceAllele": "G",
          "start": 1301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "NM_005476.6:c.1132G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005467.1:p.Asp378Tyr",
        "hgvsWellDefined": "NP_005467.1:p.Asp378Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525317"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1184,
          "referenceAllele": "G",
          "start": 1183
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "XM_005251334.4:c.1072G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251391.1:p.Asp358Tyr",
        "hgvsWellDefined": "XP_005251391.1:p.Asp358Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533584"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1198,
          "referenceAllele": "G",
          "start": 1197
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "XM_017014167.1:c.1132G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016869656.1:p.Asp378Tyr",
        "hgvsWellDefined": "XP_016869656.1:p.Asp378Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567199"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1177,
          "referenceAllele": "G",
          "start": 1176
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "XM_017014168.1:c.979G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016869657.1:p.Asp327Tyr",
        "hgvsWellDefined": "XP_016869657.1:p.Asp327Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567200"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645423793",
      "coordinates": [
        {
          "allele": "T",
          "end": 1259,
          "referenceAllele": "G",
          "start": 1258
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "NM_001128227.3:c.1225G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121699.1:p.Asp409Tyr",
        "hgvsWellDefined": "NP_001121699.1:p.Asp409Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676980",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000396594.8:c.1225G>T"
          },
          "RefSeq": {
            "hgvs": "NM_001128227.3:c.1225G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000379839.3:p.Asp409Tyr"
          },
          "RefSeq": {
            "hgvs": "NP_001121699.1:p.Asp409Tyr"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826157647",
      "coordinates": [
        {
          "allele": "T",
          "end": 1302,
          "referenceAllele": "G",
          "start": 1301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "NM_001190383.3:c.1132G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001177312.1:p.Asp378Tyr",
        "hgvsWellDefined": "NP_001177312.1:p.Asp378Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679106"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826158078",
      "coordinates": [
        {
          "allele": "T",
          "end": 943,
          "referenceAllele": "G",
          "start": 942
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "NM_001190384.3:c.802G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001177313.1:p.Asp268Tyr",
        "hgvsWellDefined": "NP_001177313.1:p.Asp268Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679107"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826158621",
      "coordinates": [
        {
          "allele": "T",
          "end": 1053,
          "referenceAllele": "G",
          "start": 1052
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "NM_001190388.2:c.955G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001177317.2:p.Asp319Tyr",
        "hgvsWellDefined": "NP_001177317.2:p.Asp319Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679108"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828550257",
      "coordinates": [
        {
          "allele": "T",
          "end": 1149,
          "referenceAllele": "G",
          "start": 1148
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "NM_001374797.1:c.979G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361726.1:p.Asp327Tyr",
        "hgvsWellDefined": "NP_001361726.1:p.Asp327Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693367"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828551345",
      "coordinates": [
        {
          "allele": "T",
          "end": 1096,
          "referenceAllele": "G",
          "start": 1095
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "NM_001374798.1:c.955G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361727.1:p.Asp319Tyr",
        "hgvsWellDefined": "NP_001361727.1:p.Asp319Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693368"
    },
    {
      "@id": "http://reg.genome.network/allele/PA103046",
      "coordinates": [
        {
          "allele": "T",
          "end": 1302,
          "referenceAllele": "G",
          "start": 1301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "NM_005476.7:c.1132G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005467.1:p.Asp378Tyr",
        "hgvsWellDefined": "NP_005467.1:p.Asp378Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696430",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000642385.2:c.1132G>T"
          },
          "RefSeq": {
            "hgvs": "NM_005476.7:c.1132G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000494141.2:p.Asp378Tyr"
          },
          "RefSeq": {
            "hgvs": "NP_005467.1:p.Asp378Tyr"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}