{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA158255",
  "communityStandardTitle": [
    "NM_000107.3(DDB2):c.1228G>A (p.Ala410Thr)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=137700[alleleid]",
        "alleleId": 137700,
        "preferredName": "NM_000107.3(DDB2):c.1228G>A (p.Ala410Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/133961",
        "RCV": [
          "RCV000120630",
          "RCV000861341",
          "RCV001102816",
          "RCV002257417",
          "RCV003935146"
        ],
        "variationId": 133961
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/11-47259728-G-A",
        "id": "11-47259728-G-A",
        "variant": "11:47259728 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.47259728G>A?assembly=hg19",
        "id": "chr11:g.47259728G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.47238177G>A?assembly=hg38",
        "id": "chr11:g.47238177G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/143049891",
        "rs": 143049891
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-47259728-G-A?dataset=gnomad_r2_1",
        "id": "11-47259728-G-A",
        "variant": "11:47259728 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-47238177-G-A?dataset=gnomad_r3",
        "id": "11-47238177-G-A",
        "variant": "11:47238177 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-47238177-G-A?dataset=gnomad_r4",
        "id": "11-47238177-G-A",
        "variant": "11:47238177 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 47238177,
          "referenceAllele": "G",
          "start": 47238176
        }
      ],
      "hgvs": [
        "NC_000011.10:g.47238177G>A",
        "CM000673.2:g.47238177G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 47259728,
          "referenceAllele": "G",
          "start": 47259727
        }
      ],
      "hgvs": [
        "NC_000011.9:g.47259728G>A",
        "CM000673.1:g.47259728G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 47216304,
          "referenceAllele": "G",
          "start": 47216303
        }
      ],
      "hgvs": [
        "NC_000011.8:g.47216304G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 28236,
          "referenceAllele": "G",
          "start": 28235
        }
      ],
      "hgvs": [
        "NG_009365.1:g.28236G>A",
        "LRG_467:g.28236G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001573"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 15730,
          "referenceAllele": "C",
          "start": 15729
        }
      ],
      "hgvs": [
        "NG_023296.1:g.15730C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003776"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1391,
          "referenceAllele": "G",
          "start": 1390
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002718",
      "geneNCBI_id": 1643,
      "geneSymbol": "DDB2",
      "hgvs": [
        "ENST00000256996.9:c.1228G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000256996.4:p.Ala410Thr",
        "hgvsWellDefined": "ENSP00000256996.4:p.Ala410Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741810",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000256996.9:c.1228G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000107.3:c.1228G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000256996.4:p.Ala410Thr"
          },
          "RefSeq": {
            "hgvs": "NP_000098.1:p.Ala410Thr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1423,
          "referenceAllele": "G",
          "start": 1422
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002718",
      "geneNCBI_id": 1643,
      "geneSymbol": "DDB2",
      "hgvs": [
        "ENST00000256996.8:c.1228G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000256996.3:p.Ala410Thr",
        "hgvsWellDefined": "ENSP00000256996.3:p.Ala410Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250232"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 661,
          "referenceAllele": "G",
          "start": 660
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002718",
      "geneNCBI_id": 1643,
      "geneSymbol": "DDB2",
      "hgvs": [
        "ENST00000378600.7:c.661G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367863.3:p.Ala221Thr",
        "hgvsWellDefined": "ENSP00000367863.3:p.Ala221Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272107"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1195,
          "referenceAllele": "G",
          "start": 1194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002718",
      "geneNCBI_id": 1643,
      "geneSymbol": "DDB2",
      "hgvs": [
        "ENST00000378601.7:c.*315G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367864.3:n.*315G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272108"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1036,
          "referenceAllele": "G",
          "start": 1035
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002718",
      "geneNCBI_id": 1643,
      "geneSymbol": "DDB2",
      "hgvs": [
        "ENST00000378603.7:c.1036G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367866.3:p.Ala346Thr",
        "hgvsWellDefined": "ENSP00000367866.3:p.Ala346Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272110"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2677,
          "referenceAllele": "G",
          "start": 2676
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002718",
      "geneNCBI_id": 1643,
      "geneSymbol": "DDB2",
      "hgvs": [
        "ENST00000612309.4:n.2677G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS401251"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 236,
          "referenceAllele": "G",
          "start": 235
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002718",
      "geneNCBI_id": 1643,
      "geneSymbol": "DDB2",
      "hgvs": [
        "ENST00000614884.1:n.236G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS402389"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 904,
          "referenceAllele": "G",
          "start": 903
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002718",
      "geneNCBI_id": 1643,
      "geneSymbol": "DDB2",
      "hgvs": [
        "ENST00000616278.4:c.904G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478411.1:n.904G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402996"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1758,
          "referenceAllele": "G",
          "start": 1757
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002718",
      "geneNCBI_id": 1643,
      "geneSymbol": "DDB2",
      "hgvs": [
        "ENST00000617022.4:n.1758G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS403305"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1251,
          "referenceAllele": "G",
          "start": 1250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002718",
      "geneNCBI_id": 1643,
      "geneSymbol": "DDB2",
      "hgvs": [
        "ENST00000617847.4:c.1251G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS403658"
    },
    {
      "@id": "http://reg.genome.network/allele/PA158257",
      "coordinates": [
        {
          "allele": "A",
          "end": 1423,
          "referenceAllele": "G",
          "start": 1422
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002718",
      "geneNCBI_id": 1643,
      "geneSymbol": "DDB2",
      "hgvs": [
        "NM_000107.2:c.1228G>A",
        "LRG_467t1:c.1228G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000098.1:p.Ala410Thr",
        "hgvsWellDefined": "NP_000098.1:p.Ala410Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006170"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826847907",
      "coordinates": [
        {
          "allele": "A",
          "end": 856,
          "referenceAllele": "G",
          "start": 855
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002718",
      "geneNCBI_id": 1643,
      "geneSymbol": "DDB2",
      "hgvs": [
        "NM_001300734.1:c.661G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001287663.1:p.Ala221Thr",
        "hgvsWellDefined": "NP_001287663.1:p.Ala221Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024797"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1218,
          "referenceAllele": "G",
          "start": 1217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002718",
      "geneNCBI_id": 1643,
      "geneSymbol": "DDB2",
      "hgvs": [
        "XR_242780.3:n.1218G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS116358"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1218,
          "referenceAllele": "G",
          "start": 1217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002718",
      "geneNCBI_id": 1643,
      "geneSymbol": "DDB2",
      "hgvs": [
        "XR_242780.4:n.1218G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS605939"
    },
    {
      "@id": "http://reg.genome.network/allele/PA158257",
      "coordinates": [
        {
          "allele": "A",
          "end": 1391,
          "referenceAllele": "G",
          "start": 1390
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002718",
      "geneNCBI_id": 1643,
      "geneSymbol": "DDB2",
      "hgvs": [
        "NM_000107.3:c.1228G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000098.1:p.Ala410Thr",
        "hgvsWellDefined": "NP_000098.1:p.Ala410Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674703",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000256996.9:c.1228G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000107.3:c.1228G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000256996.4:p.Ala410Thr"
          },
          "RefSeq": {
            "hgvs": "NP_000098.1:p.Ala410Thr"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826847907",
      "coordinates": [
        {
          "allele": "A",
          "end": 824,
          "referenceAllele": "G",
          "start": 823
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002718",
      "geneNCBI_id": 1643,
      "geneSymbol": "DDB2",
      "hgvs": [
        "NM_001300734.2:c.661G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001287663.1:p.Ala221Thr",
        "hgvsWellDefined": "NP_001287663.1:p.Ala221Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716855"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1515,
          "referenceAllele": "G",
          "start": 1514
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002718",
      "geneNCBI_id": 1643,
      "geneSymbol": "DDB2",
      "hgvs": [
        "NM_001399874.1:c.1228G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001386803.1:p.Ala410Thr",
        "hgvsWellDefined": "NP_001386803.1:p.Ala410Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS783297"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1513,
          "referenceAllele": "G",
          "start": 1512
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002718",
      "geneNCBI_id": 1643,
      "geneSymbol": "DDB2",
      "hgvs": [
        "NM_001399875.1:c.1228G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001386804.1:p.Ala410Thr",
        "hgvsWellDefined": "NP_001386804.1:p.Ala410Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS783298"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 948,
          "referenceAllele": "G",
          "start": 947
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002718",
      "geneNCBI_id": 1643,
      "geneSymbol": "DDB2",
      "hgvs": [
        "NM_001399876.1:c.661G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001386805.1:p.Ala221Thr",
        "hgvsWellDefined": "NP_001386805.1:p.Ala221Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS783299"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1199,
          "referenceAllele": "G",
          "start": 1198
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002718",
      "geneNCBI_id": 1643,
      "geneSymbol": "DDB2",
      "hgvs": [
        "NM_001399878.1:c.1036G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001386807.1:p.Ala346Thr",
        "hgvsWellDefined": "NP_001386807.1:p.Ala346Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS783300"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1479,
          "referenceAllele": "G",
          "start": 1478
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002718",
      "geneNCBI_id": 1643,
      "geneSymbol": "DDB2",
      "hgvs": [
        "NR_174610.1:n.1479G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS785043"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1457,
          "referenceAllele": "G",
          "start": 1456
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002718",
      "geneNCBI_id": 1643,
      "geneSymbol": "DDB2",
      "hgvs": [
        "NR_174611.1:n.1457G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS785044"
    }
  ],
  "type": "nucleotide"
}