{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA126954682",
  "communityStandardTitle": [
    "NM_001256545.2(MEGF10):c.*551G>A"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=892781[alleleid]",
        "alleleId": 892781,
        "preferredName": "NM_001256545.2(MEGF10):c.*551G>A"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/907608",
        "RCV": [
          "RCV001157574"
        ],
        "variationId": 907608
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.127457869G>A?assembly=hg38",
        "id": "chr5:g.127457869G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1025283407",
        "rs": 1025283407
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 127457869,
          "referenceAllele": "G",
          "start": 127457868
        }
      ],
      "hgvs": [
        "NC_000005.10:g.127457869G>A",
        "CM000667.2:g.127457869G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 126793561,
          "referenceAllele": "G",
          "start": 126793560
        }
      ],
      "hgvs": [
        "NC_000005.9:g.126793561G>A",
        "CM000667.1:g.126793561G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 126821460,
          "referenceAllele": "G",
          "start": 126821459
        }
      ],
      "hgvs": [
        "NC_000005.8:g.126821460G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 172106,
          "referenceAllele": "G",
          "start": 172105
        }
      ],
      "hgvs": [
        "NG_032072.1:g.172106G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005117"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 172106,
          "referenceAllele": "G",
          "start": 172105
        }
      ],
      "hgvs": [
        "NG_032072.2:g.172106G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673860"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4253,
          "referenceAllele": "G",
          "start": 4252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029634",
      "geneNCBI_id": 84466,
      "geneSymbol": "MEGF10",
      "hgvs": [
        "ENST00000503335.7:c.*551G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423354.2:n.*551G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757972",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000503335.7:c.*551G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001256545.2:c.*551G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000423354.2:n.*551G>A"
          },
          "RefSeq": {
            "hgvs": "NP_001243474.1:n.*551G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4241,
          "referenceAllele": "G",
          "start": 4240
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029634",
      "geneNCBI_id": 84466,
      "geneSymbol": "MEGF10",
      "hgvs": [
        "ENST00000274473.6:c.*551G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000274473.6:n.*551G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252543"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4218,
          "referenceAllele": "G",
          "start": 4217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029634",
      "geneNCBI_id": 84466,
      "geneSymbol": "MEGF10",
      "hgvs": [
        "ENST00000503335.6:c.*551G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423354.2:n.*551G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS335671"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 433,
          "endIntronDirection": "+",
          "endIntronOffset": 2262,
          "referenceAllele": "G",
          "start": 433,
          "startIntronDirection": "+",
          "startIntronOffset": 2261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029634",
      "geneNCBI_id": 84466,
      "geneSymbol": "MEGF10",
      "hgvs": [
        "ENST00000515622.1:n.433+2262G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS344805"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4285,
          "referenceAllele": "G",
          "start": 4284
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029634",
      "geneNCBI_id": 84466,
      "geneSymbol": "MEGF10",
      "hgvs": [
        "NM_001256545.1:c.*551G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243474.1:n.*551G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019309"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4336,
          "referenceAllele": "G",
          "start": 4335
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029634",
      "geneNCBI_id": 84466,
      "geneSymbol": "MEGF10",
      "hgvs": [
        "NM_032446.2:c.*551G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_115822.1:n.*551G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039091"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4269,
          "referenceAllele": "G",
          "start": 4268
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029634",
      "geneNCBI_id": 84466,
      "geneSymbol": "MEGF10",
      "hgvs": [
        "XM_011543692.1:c.*551G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541994.1:n.*551G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110609"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4061,
          "referenceAllele": "G",
          "start": 4060
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029634",
      "geneNCBI_id": 84466,
      "geneSymbol": "MEGF10",
      "hgvs": [
        "XM_011543693.1:c.*551G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541995.1:n.*551G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110610"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4048,
          "referenceAllele": "G",
          "start": 4047
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029634",
      "geneNCBI_id": 84466,
      "geneSymbol": "MEGF10",
      "hgvs": [
        "XM_011543694.1:c.*551G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541996.1:n.*551G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110611"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4581,
          "referenceAllele": "G",
          "start": 4580
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029634",
      "geneNCBI_id": 84466,
      "geneSymbol": "MEGF10",
      "hgvs": [
        "XM_017009987.1:c.*551G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865476.1:n.*551G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564156"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3354,
          "referenceAllele": "G",
          "start": 3353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029634",
      "geneNCBI_id": 84466,
      "geneSymbol": "MEGF10",
      "hgvs": [
        "XM_017009988.1:c.*551G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865477.1:n.*551G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564157"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4253,
          "referenceAllele": "G",
          "start": 4252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029634",
      "geneNCBI_id": 84466,
      "geneSymbol": "MEGF10",
      "hgvs": [
        "NM_001256545.2:c.*551G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243474.1:n.*551G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS664087",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000503335.7:c.*551G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001256545.2:c.*551G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000423354.2:n.*551G>A"
          },
          "RefSeq": {
            "hgvs": "NP_001243474.1:n.*551G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4304,
          "referenceAllele": "G",
          "start": 4303
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029634",
      "geneNCBI_id": 84466,
      "geneSymbol": "MEGF10",
      "hgvs": [
        "NM_032446.3:c.*551G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_115822.1:n.*551G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699106"
    }
  ],
  "type": "nucleotide"
}