{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA114613",
  "communityStandardTitle": [
    "NM_006331.8(EMG1):c.257A>G (p.Asp86Gly)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=15929[alleleid]",
        "alleleId": 15929,
        "preferredName": "NM_006331.8(EMG1):c.257A>G (p.Asp86Gly)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/890",
        "RCV": [
          "RCV000000938"
        ],
        "variationId": 890
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/12-7083589-A-G",
        "id": "12-7083589-A-G",
        "variant": "12:7083589 A / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.7083589A>G?assembly=hg19",
        "id": "chr12:g.7083589A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.6974427A>G?assembly=hg38",
        "id": "chr12:g.6974427A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/74435397",
        "rs": 74435397
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-7083589-A-G?dataset=gnomad_r2_1",
        "id": "12-7083589-A-G",
        "variant": "12:7083589 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-6974427-A-G?dataset=gnomad_r3",
        "id": "12-6974427-A-G",
        "variant": "12:6974427 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-6974427-A-G?dataset=gnomad_r4",
        "id": "12-6974427-A-G",
        "variant": "12:6974427 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "G",
          "end": 6974427,
          "referenceAllele": "A",
          "start": 6974426
        }
      ],
      "hgvs": [
        "NC_000012.12:g.6974427A>G",
        "CM000674.2:g.6974427A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "G",
          "end": 7083589,
          "referenceAllele": "A",
          "start": 7083588
        }
      ],
      "hgvs": [
        "NC_000012.11:g.7083589A>G",
        "CM000674.1:g.7083589A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "G",
          "end": 6953850,
          "referenceAllele": "A",
          "start": 6953849
        }
      ],
      "hgvs": [
        "NC_000012.10:g.6953850A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8647,
          "referenceAllele": "A",
          "start": 8646
        }
      ],
      "hgvs": [
        "NG_021408.1:g.8647A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003634"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8647,
          "referenceAllele": "A",
          "start": 8646
        }
      ],
      "hgvs": [
        "NG_021408.2:g.8647A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616255"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 268,
          "referenceAllele": "A",
          "start": 267
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016912",
      "geneNCBI_id": 10436,
      "geneSymbol": "EMG1",
      "hgvs": [
        "ENST00000599672.6:c.257A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000470560.1:p.Asp86Gly",
        "hgvsWellDefined": "ENSP00000470560.1:p.Asp86Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761494",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000599672.6:c.257A>G"
          },
          "RefSeq": {
            "hgvs": "NM_006331.8:c.257A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000470560.1:p.Asp86Gly"
          },
          "RefSeq": {
            "hgvs": "NP_006322.4:p.Asp86Gly"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 239,
          "referenceAllele": "A",
          "start": 238
        }
      ],
      "hgvs": [
        "ENST00000261406.7:c.239A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000476966.2:p.Asp80Gly",
        "hgvsWellDefined": "ENSP00000476966.2:p.Asp80Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250737"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 120,
          "referenceAllele": "A",
          "start": 119
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016912",
      "geneNCBI_id": 10436,
      "geneSymbol": "EMG1",
      "hgvs": [
        "ENST00000539196.2:c.120A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS361723"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 288,
          "referenceAllele": "A",
          "start": 287
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016912",
      "geneNCBI_id": 10436,
      "geneSymbol": "EMG1",
      "hgvs": [
        "ENST00000599672.5:c.257A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000470560.1:p.Asp86Gly",
        "hgvsWellDefined": "ENSP00000470560.1:p.Asp86Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS396937"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 260,
          "referenceAllele": "A",
          "start": 259
        }
      ],
      "hgvs": [
        "ENST00000607161.5:c.260A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480420.1:p.Asp87Gly",
        "hgvsWellDefined": "ENSP00000480420.1:p.Asp87Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS399845"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 268,
          "referenceAllele": "A",
          "start": 267
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016912",
      "geneNCBI_id": 10436,
      "geneSymbol": "EMG1",
      "hgvs": [
        "ENST00000611981.1:n.268A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS401105"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 246,
          "referenceAllele": "A",
          "start": 245
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016912",
      "geneNCBI_id": 10436,
      "geneSymbol": "EMG1",
      "hgvs": [
        "ENST00000620255.1:n.246A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS404749"
    },
    {
      "@id": "http://reg.genome.network/allele/PA109166",
      "coordinates": [
        {
          "allele": "G",
          "end": 400,
          "referenceAllele": "A",
          "start": 399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016912",
      "geneNCBI_id": 10436,
      "geneSymbol": "EMG1",
      "hgvs": [
        "NM_006331.7:c.257A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_006322.4:p.Asp86Gly",
        "hgvsWellDefined": "NP_006322.4:p.Asp86Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031349"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 350,
          "referenceAllele": "A",
          "start": 349
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016912",
      "geneNCBI_id": 10436,
      "geneSymbol": "EMG1",
      "hgvs": [
        "XM_011520907.1:c.257A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519209.1:p.Asp86Gly",
        "hgvsWellDefined": "XP_011519209.1:p.Asp86Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088072"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827040811",
      "coordinates": [
        {
          "allele": "G",
          "end": 400,
          "referenceAllele": "A",
          "start": 399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016912",
      "geneNCBI_id": 10436,
      "geneSymbol": "EMG1",
      "hgvs": [
        "NM_001320049.1:c.257A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001306978.1:p.Asp86Gly",
        "hgvsWellDefined": "NP_001306978.1:p.Asp86Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513453"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 400,
          "referenceAllele": "A",
          "start": 399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016912",
      "geneNCBI_id": 10436,
      "geneSymbol": "EMG1",
      "hgvs": [
        "NR_135131.1:n.400A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS528055"
    },
    {
      "@id": "http://reg.genome.network/allele/PA109166",
      "coordinates": [
        {
          "allele": "G",
          "end": 268,
          "referenceAllele": "A",
          "start": 267
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016912",
      "geneNCBI_id": 10436,
      "geneSymbol": "EMG1",
      "hgvs": [
        "NM_006331.8:c.257A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_006322.4:p.Asp86Gly",
        "hgvsWellDefined": "NP_006322.4:p.Asp86Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667403",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000599672.6:c.257A>G"
          },
          "RefSeq": {
            "hgvs": "NM_006331.8:c.257A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000470560.1:p.Asp86Gly"
          },
          "RefSeq": {
            "hgvs": "NP_006322.4:p.Asp86Gly"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827040811",
      "coordinates": [
        {
          "allele": "G",
          "end": 268,
          "referenceAllele": "A",
          "start": 267
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016912",
      "geneNCBI_id": 10436,
      "geneSymbol": "EMG1",
      "hgvs": [
        "NM_001320049.2:c.257A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001306978.1:p.Asp86Gly",
        "hgvsWellDefined": "NP_001306978.1:p.Asp86Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684835"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 268,
          "referenceAllele": "A",
          "start": 267
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016912",
      "geneNCBI_id": 10436,
      "geneSymbol": "EMG1",
      "hgvs": [
        "NR_135131.2:n.268A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS703594"
    }
  ],
  "type": "nucleotide"
}