{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA116434",
  "communityStandardTitle": [
    "NM_001008216.2(GALE):c.280G>A (p.Val94Met)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=18721[alleleid]",
        "alleleId": 18721,
        "preferredName": "NM_001008216.2(GALE):c.280G>A (p.Val94Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3682",
        "RCV": [
          "RCV000003867",
          "RCV000020292",
          "RCV000727367",
          "RCV002512728"
        ],
        "variationId": 3682
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-24124678-C-T",
        "id": "1-24124678-C-T",
        "variant": "1:24124678 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.24124678C>T?assembly=hg19",
        "id": "chr1:g.24124678C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.23798188C>T?assembly=hg38",
        "id": "chr1:g.23798188C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121908047",
        "rs": 121908047
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-24124678-C-T?dataset=gnomad_r2_1",
        "id": "1-24124678-C-T",
        "variant": "1:24124678 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-23798188-C-T?dataset=gnomad_r3",
        "id": "1-23798188-C-T",
        "variant": "1:23798188 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-23798188-C-T?dataset=gnomad_r4",
        "id": "1-23798188-C-T",
        "variant": "1:23798188 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 23798188,
          "referenceAllele": "C",
          "start": 23798187
        }
      ],
      "hgvs": [
        "NC_000001.11:g.23798188C>T",
        "CM000663.2:g.23798188C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 24124678,
          "referenceAllele": "C",
          "start": 24124677
        }
      ],
      "hgvs": [
        "NC_000001.10:g.24124678C>T",
        "CM000663.1:g.24124678C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 23997265,
          "referenceAllele": "C",
          "start": 23997264
        }
      ],
      "hgvs": [
        "NC_000001.9:g.23997265C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7617,
          "referenceAllele": "G",
          "start": 7616
        }
      ],
      "hgvs": [
        "NG_007068.1:g.7617G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000448"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 399,
          "referenceAllele": "G",
          "start": 398
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004116",
      "geneNCBI_id": 2582,
      "geneSymbol": "GALE",
      "hgvs": [
        "ENST00000617979.5:c.280G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483375.1:p.Val94Met",
        "hgvsWellDefined": "ENSP00000483375.1:p.Val94Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762150",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000617979.5:c.280G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001008216.2:c.280G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000483375.1:p.Val94Met"
          },
          "RefSeq": {
            "hgvs": "NP_001008217.1:p.Val94Met"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 372,
          "referenceAllele": "G",
          "start": 371
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004116",
      "geneNCBI_id": 2582,
      "geneSymbol": "GALE",
      "hgvs": [
        "ENST00000374497.7:c.280G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363621.3:p.Val94Met",
        "hgvsWellDefined": "ENSP00000363621.3:p.Val94Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270275"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 289,
          "referenceAllele": "G",
          "start": 288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004116",
      "geneNCBI_id": 2582,
      "geneSymbol": "GALE",
      "hgvs": [
        "ENST00000418277.5:c.88G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000414719.1:p.Val30Met",
        "hgvsWellDefined": "ENSP00000414719.1:p.Val30Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS285329"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 572,
          "referenceAllele": "G",
          "start": 571
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004116",
      "geneNCBI_id": 2582,
      "geneSymbol": "GALE",
      "hgvs": [
        "ENST00000425913.5:c.280G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000393359.1:p.Val94Met",
        "hgvsWellDefined": "ENSP00000393359.1:p.Val94Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS288978"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 327,
          "referenceAllele": "G",
          "start": 326
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004116",
      "geneNCBI_id": 2582,
      "geneSymbol": "GALE",
      "hgvs": [
        "ENST00000429356.5:c.88G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000398585.1:p.Val30Met",
        "hgvsWellDefined": "ENSP00000398585.1:p.Val30Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS290625"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 490,
          "referenceAllele": "G",
          "start": 489
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004116",
      "geneNCBI_id": 2582,
      "geneSymbol": "GALE",
      "hgvs": [
        "ENST00000445705.1:c.280G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000398257.1:p.Val94Met",
        "hgvsWellDefined": "ENSP00000398257.1:p.Val94Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS298411"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 398,
          "referenceAllele": "G",
          "start": 397
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004116",
      "geneNCBI_id": 2582,
      "geneSymbol": "GALE",
      "hgvs": [
        "ENST00000459934.5:n.398G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS304790"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 740,
          "referenceAllele": "G",
          "start": 739
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004116",
      "geneNCBI_id": 2582,
      "geneSymbol": "GALE",
      "hgvs": [
        "ENST00000467493.5:n.740G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS310614"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 225,
          "referenceAllele": "G",
          "start": 224
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004116",
      "geneNCBI_id": 2582,
      "geneSymbol": "GALE",
      "hgvs": [
        "ENST00000470949.5:n.225G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS313259"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 684,
          "referenceAllele": "G",
          "start": 683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004116",
      "geneNCBI_id": 2582,
      "geneSymbol": "GALE",
      "hgvs": [
        "ENST00000481736.5:n.684G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS321588"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 381,
          "referenceAllele": "G",
          "start": 380
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004116",
      "geneNCBI_id": 2582,
      "geneSymbol": "GALE",
      "hgvs": [
        "ENST00000486382.1:n.381G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS325198"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 449,
          "referenceAllele": "G",
          "start": 448
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004116",
      "geneNCBI_id": 2582,
      "geneSymbol": "GALE",
      "hgvs": [
        "ENST00000617979.4:c.280G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483375.1:p.Val94Met",
        "hgvsWellDefined": "ENSP00000483375.1:p.Val94Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403721"
    },
    {
      "@id": "http://reg.genome.network/allele/PA104728",
      "coordinates": [
        {
          "allele": "A",
          "end": 514,
          "referenceAllele": "G",
          "start": 513
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004116",
      "geneNCBI_id": 2582,
      "geneSymbol": "GALE",
      "hgvs": [
        "NM_000403.3:c.280G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000394.2:p.Val94Met",
        "hgvsWellDefined": "NP_000394.2:p.Val94Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006464"
    },
    {
      "@id": "http://reg.genome.network/allele/PA116435",
      "coordinates": [
        {
          "allele": "A",
          "end": 449,
          "referenceAllele": "G",
          "start": 448
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004116",
      "geneNCBI_id": 2582,
      "geneSymbol": "GALE",
      "hgvs": [
        "NM_001008216.1:c.280G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001008217.1:p.Val94Met",
        "hgvsWellDefined": "NP_001008217.1:p.Val94Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007966"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645466484",
      "coordinates": [
        {
          "allele": "A",
          "end": 490,
          "referenceAllele": "G",
          "start": 489
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004116",
      "geneNCBI_id": 2582,
      "geneSymbol": "GALE",
      "hgvs": [
        "NM_001127621.1:c.280G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121093.1:p.Val94Met",
        "hgvsWellDefined": "NP_001121093.1:p.Val94Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011653"
    },
    {
      "@id": "http://reg.genome.network/allele/PA116435",
      "coordinates": [
        {
          "allele": "A",
          "end": 399,
          "referenceAllele": "G",
          "start": 398
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004116",
      "geneNCBI_id": 2582,
      "geneSymbol": "GALE",
      "hgvs": [
        "NM_001008216.2:c.280G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001008217.1:p.Val94Met",
        "hgvsWellDefined": "NP_001008217.1:p.Val94Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662810",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000617979.5:c.280G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001008216.2:c.280G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000483375.1:p.Val94Met"
          },
          "RefSeq": {
            "hgvs": "NP_001008217.1:p.Val94Met"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA104728",
      "coordinates": [
        {
          "allele": "A",
          "end": 548,
          "referenceAllele": "G",
          "start": 547
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004116",
      "geneNCBI_id": 2582,
      "geneSymbol": "GALE",
      "hgvs": [
        "NM_000403.4:c.280G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000394.2:p.Val94Met",
        "hgvsWellDefined": "NP_000394.2:p.Val94Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674828"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645466484",
      "coordinates": [
        {
          "allele": "A",
          "end": 467,
          "referenceAllele": "G",
          "start": 466
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004116",
      "geneNCBI_id": 2582,
      "geneSymbol": "GALE",
      "hgvs": [
        "NM_001127621.2:c.280G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121093.1:p.Val94Met",
        "hgvsWellDefined": "NP_001121093.1:p.Val94Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676916"
    }
  ],
  "type": "nucleotide"
}