{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA6280800",
  "communityStandardTitle": [
    "NM_178510.2(ANKK1):c.952G>T (p.Gly318Trp)"
  ],
  "externalRecords": {
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/11-113268059-G-T",
        "id": "11-113268059-G-T",
        "variant": "11:113268059 G / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.113268059G>T?assembly=hg19",
        "id": "chr11:g.113268059G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.113397337G>T?assembly=hg38",
        "id": "chr11:g.113397337G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/11604671",
        "rs": 11604671
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-113268059-G-T?dataset=gnomad_r2_1",
        "id": "11-113268059-G-T",
        "variant": "11:113268059 G / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-113397337-G-T?dataset=gnomad_r3",
        "id": "11-113397337-G-T",
        "variant": "11:113397337 G / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-113397337-G-T?dataset=gnomad_r4",
        "id": "11-113397337-G-T",
        "variant": "11:113397337 G / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 113397337,
          "referenceAllele": "G",
          "start": 113397336
        }
      ],
      "hgvs": [
        "NC_000011.10:g.113397337G>T",
        "CM000673.2:g.113397337G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 113268059,
          "referenceAllele": "G",
          "start": 113268058
        }
      ],
      "hgvs": [
        "NC_000011.9:g.113268059G>T",
        "CM000673.1:g.113268059G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 112773269,
          "referenceAllele": "G",
          "start": 112773268
        }
      ],
      "hgvs": [
        "NC_000011.8:g.112773269G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14547,
          "referenceAllele": "G",
          "start": 14546
        }
      ],
      "hgvs": [
        "NG_012976.1:g.14547G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002645"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1058,
          "referenceAllele": "G",
          "start": 1057
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021027",
      "geneNCBI_id": 255239,
      "geneSymbol": "ANKK1",
      "hgvs": [
        "ENST00000303941.4:c.952G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000306678.3:p.Gly318Trp",
        "hgvsWellDefined": "ENSP00000306678.3:p.Gly318Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745062",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000303941.4:c.952G>T"
          },
          "RefSeq": {
            "hgvs": "NM_178510.2:c.952G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000306678.3:p.Gly318Trp"
          },
          "RefSeq": {
            "hgvs": "NP_848605.1:p.Gly318Trp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1046,
          "referenceAllele": "G",
          "start": 1045
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021027",
      "geneNCBI_id": 255239,
      "geneSymbol": "ANKK1",
      "hgvs": [
        "ENST00000303941.3:c.952G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000306678.3:p.Gly318Trp",
        "hgvsWellDefined": "ENSP00000306678.3:p.Gly318Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255382"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3077695870",
      "coordinates": [
        {
          "allele": "T",
          "end": 1046,
          "referenceAllele": "G",
          "start": 1045
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021027",
      "geneNCBI_id": 255239,
      "geneSymbol": "ANKK1",
      "hgvs": [
        "NM_178510.1:c.952G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_848605.1:p.Gly318Trp",
        "hgvsWellDefined": "NP_848605.1:p.Gly318Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043562"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2829,
          "referenceAllele": "G",
          "start": 2828
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021027",
      "geneNCBI_id": 255239,
      "geneSymbol": "ANKK1",
      "hgvs": [
        "XM_011542736.1:c.982G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541038.1:p.Gly328Trp",
        "hgvsWellDefined": "XP_011541038.1:p.Gly328Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109665"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2799,
          "referenceAllele": "G",
          "start": 2798
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021027",
      "geneNCBI_id": 255239,
      "geneSymbol": "ANKK1",
      "hgvs": [
        "XM_011542737.1:c.952G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541039.1:p.Gly318Trp",
        "hgvsWellDefined": "XP_011541039.1:p.Gly318Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109666"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3106,
          "referenceAllele": "G",
          "start": 3105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021027",
      "geneNCBI_id": 255239,
      "geneSymbol": "ANKK1",
      "hgvs": [
        "XM_011542738.1:c.760G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541040.1:p.Gly254Trp",
        "hgvsWellDefined": "XP_011541040.1:p.Gly254Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109667"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2853,
          "referenceAllele": "G",
          "start": 2852
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021027",
      "geneNCBI_id": 255239,
      "geneSymbol": "ANKK1",
      "hgvs": [
        "XM_011542736.2:c.982G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541038.1:p.Gly328Trp",
        "hgvsWellDefined": "XP_011541038.1:p.Gly328Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554900"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2823,
          "referenceAllele": "G",
          "start": 2822
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021027",
      "geneNCBI_id": 255239,
      "geneSymbol": "ANKK1",
      "hgvs": [
        "XM_011542737.2:c.952G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541039.1:p.Gly318Trp",
        "hgvsWellDefined": "XP_011541039.1:p.Gly318Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554901"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3111,
          "referenceAllele": "G",
          "start": 3110
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021027",
      "geneNCBI_id": 255239,
      "geneSymbol": "ANKK1",
      "hgvs": [
        "XM_011542738.2:c.760G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541040.1:p.Gly254Trp",
        "hgvsWellDefined": "XP_011541040.1:p.Gly254Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554902"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2853,
          "referenceAllele": "G",
          "start": 2852
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021027",
      "geneNCBI_id": 255239,
      "geneSymbol": "ANKK1",
      "hgvs": [
        "XM_017017475.1:c.982G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016872964.1:p.Gly328Trp",
        "hgvsWellDefined": "XP_016872964.1:p.Gly328Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569673"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3077695870",
      "coordinates": [
        {
          "allele": "T",
          "end": 1058,
          "referenceAllele": "G",
          "start": 1057
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021027",
      "geneNCBI_id": 255239,
      "geneSymbol": "ANKK1",
      "hgvs": [
        "NM_178510.2:c.952G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_848605.1:p.Gly318Trp",
        "hgvsWellDefined": "NP_848605.1:p.Gly318Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700873",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000303941.4:c.952G>T"
          },
          "RefSeq": {
            "hgvs": "NM_178510.2:c.952G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000306678.3:p.Gly318Trp"
          },
          "RefSeq": {
            "hgvs": "NP_848605.1:p.Gly318Trp"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}