{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1562134",
  "communityStandardTitle": [
    "NM_145038.5(DRC1):c.1093G>A (p.Glu365Lys)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=450937[alleleid]",
        "alleleId": 450937,
        "preferredName": "NM_145038.5(DRC1):c.1093G>A (p.Glu365Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/454975",
        "RCV": [
          "RCV000525299"
        ],
        "variationId": 454975
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/2-26667154-G-A",
        "id": "2-26667154-G-A",
        "variant": "2:26667154 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.26667154G>A?assembly=hg19",
        "id": "chr2:g.26667154G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.26444286G>A?assembly=hg38",
        "id": "chr2:g.26444286G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/35094910",
        "rs": 35094910
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-26667154-G-A?dataset=gnomad_r2_1",
        "id": "2-26667154-G-A",
        "variant": "2:26667154 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-26444286-G-A?dataset=gnomad_r3",
        "id": "2-26444286-G-A",
        "variant": "2:26444286 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-26444286-G-A?dataset=gnomad_r4",
        "id": "2-26444286-G-A",
        "variant": "2:26444286 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 26444286,
          "referenceAllele": "G",
          "start": 26444285
        }
      ],
      "hgvs": [
        "NC_000002.12:g.26444286G>A",
        "CM000664.2:g.26444286G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 26667154,
          "referenceAllele": "G",
          "start": 26667153
        }
      ],
      "hgvs": [
        "NC_000002.11:g.26667154G>A",
        "CM000664.1:g.26667154G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 26520658,
          "referenceAllele": "G",
          "start": 26520657
        }
      ],
      "hgvs": [
        "NC_000002.10:g.26520658G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 47375,
          "referenceAllele": "G",
          "start": 47374
        }
      ],
      "hgvs": [
        "NG_042824.1:g.47375G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS006026"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1163,
          "referenceAllele": "G",
          "start": 1162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024245",
      "geneNCBI_id": 92749,
      "geneSymbol": "DRC1",
      "hgvs": [
        "ENST00000288710.7:c.1093G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000288710.2:p.Glu365Lys",
        "hgvsWellDefined": "ENSP00000288710.2:p.Glu365Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743956",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000288710.7:c.1093G>A"
          },
          "RefSeq": {
            "hgvs": "NM_145038.5:c.1093G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000288710.2:p.Glu365Lys"
          },
          "RefSeq": {
            "hgvs": "NP_659475.2:p.Glu365Lys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 939,
          "referenceAllele": "G",
          "start": 938
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024245",
      "geneNCBI_id": 92749,
      "geneSymbol": "DRC1",
      "hgvs": [
        "ENST00000649059.1:c.939G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS770324"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1167,
          "referenceAllele": "G",
          "start": 1166
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024245",
      "geneNCBI_id": 92749,
      "geneSymbol": "DRC1",
      "hgvs": [
        "ENST00000288710.6:c.1093G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000288710.2:p.Glu365Lys",
        "hgvsWellDefined": "ENSP00000288710.2:p.Glu365Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253532"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 821,
          "referenceAllele": "G",
          "start": 820
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024245",
      "geneNCBI_id": 92749,
      "geneSymbol": "DRC1",
      "hgvs": [
        "ENST00000421869.5:c.*406G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000414375.1:n.*406G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS287008"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 694,
          "referenceAllele": "G",
          "start": 693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024245",
      "geneNCBI_id": 92749,
      "geneSymbol": "DRC1",
      "hgvs": [
        "ENST00000483675.1:n.694G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS323088"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658669710",
      "coordinates": [
        {
          "allele": "A",
          "end": 1167,
          "referenceAllele": "G",
          "start": 1166
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024245",
      "geneNCBI_id": 92749,
      "geneSymbol": "DRC1",
      "hgvs": [
        "NM_145038.3:c.1093G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_659475.2:p.Glu365Lys",
        "hgvsWellDefined": "NP_659475.2:p.Glu365Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247073"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658669710",
      "coordinates": [
        {
          "allele": "A",
          "end": 1171,
          "referenceAllele": "G",
          "start": 1170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024245",
      "geneNCBI_id": 92749,
      "geneSymbol": "DRC1",
      "hgvs": [
        "NM_145038.4:c.1093G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_659475.2:p.Glu365Lys",
        "hgvsWellDefined": "NP_659475.2:p.Glu365Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS041323"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 979,
          "referenceAllele": "G",
          "start": 978
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024245",
      "geneNCBI_id": 92749,
      "geneSymbol": "DRC1",
      "hgvs": [
        "XM_005264637.3:c.475G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264694.1:p.Glu159Lys",
        "hgvsWellDefined": "XP_005264694.1:p.Glu159Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064321"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 526,
          "referenceAllele": "G",
          "start": 525
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024245",
      "geneNCBI_id": 92749,
      "geneSymbol": "DRC1",
      "hgvs": [
        "XM_005264638.3:c.73G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264695.1:p.Glu25Lys",
        "hgvsWellDefined": "XP_005264695.1:p.Glu25Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064322"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 939,
          "referenceAllele": "G",
          "start": 938
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024245",
      "geneNCBI_id": 92749,
      "geneSymbol": "DRC1",
      "hgvs": [
        "XM_017005271.1:c.73G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860760.1:p.Glu25Lys",
        "hgvsWellDefined": "XP_016860760.1:p.Glu25Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560590"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 824,
          "referenceAllele": "G",
          "start": 823
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024245",
      "geneNCBI_id": 92749,
      "geneSymbol": "DRC1",
      "hgvs": [
        "XM_024453218.1:c.73G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308986.1:p.Glu25Lys",
        "hgvsWellDefined": "XP_024308986.1:p.Glu25Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586604"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658669710",
      "coordinates": [
        {
          "allele": "A",
          "end": 1163,
          "referenceAllele": "G",
          "start": 1162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024245",
      "geneNCBI_id": 92749,
      "geneSymbol": "DRC1",
      "hgvs": [
        "NM_145038.5:c.1093G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_659475.2:p.Glu365Lys",
        "hgvsWellDefined": "NP_659475.2:p.Glu365Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS672127",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000288710.7:c.1093G>A"
          },
          "RefSeq": {
            "hgvs": "NM_145038.5:c.1093G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000288710.2:p.Glu365Lys"
          },
          "RefSeq": {
            "hgvs": "NP_659475.2:p.Glu365Lys"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}