{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10629755",
  "communityStandardTitle": [
    "NM_001025389.2(AMPD3):c.485G>A (p.Arg162Gln)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1182706",
        "active": true,
        "id": "COSM1182706"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=312193[alleleid]",
        "alleleId": 312193,
        "preferredName": "NM_001025389.2(AMPD3):c.485G>A (p.Arg162Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/302156",
        "RCV": [
          "RCV000285685"
        ],
        "variationId": 302156
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.10503668G>A?assembly=hg19",
        "id": "chr11:g.10503668G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.10482121G>A?assembly=hg38",
        "id": "chr11:g.10482121G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/886047586",
        "rs": 886047586
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-10503668-G-A?dataset=gnomad_r2_1",
        "id": "11-10503668-G-A",
        "variant": "11:10503668 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-10482121-G-A?dataset=gnomad_r3",
        "id": "11-10482121-G-A",
        "variant": "11:10482121 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-10482121-G-A?dataset=gnomad_r4",
        "id": "11-10482121-G-A",
        "variant": "11:10482121 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 10482121,
          "referenceAllele": "G",
          "start": 10482120
        }
      ],
      "hgvs": [
        "NC_000011.10:g.10482121G>A",
        "CM000673.2:g.10482121G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 10503668,
          "referenceAllele": "G",
          "start": 10503667
        }
      ],
      "hgvs": [
        "NC_000011.9:g.10503668G>A",
        "CM000673.1:g.10503668G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 10460244,
          "referenceAllele": "G",
          "start": 10460243
        }
      ],
      "hgvs": [
        "NC_000011.8:g.10460244G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 36445,
          "referenceAllele": "G",
          "start": 36444
        }
      ],
      "hgvs": [
        "NG_012041.1:g.36445G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002127"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 675,
          "referenceAllele": "G",
          "start": 674
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000470",
      "geneNCBI_id": 272,
      "geneSymbol": "AMPD3",
      "hgvs": [
        "ENST00000396553.7:c.485G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379801.2:p.Arg162Gln",
        "hgvsWellDefined": "ENSP00000379801.2:p.Arg162Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824504",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000396553.7:c.485G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001025389.2:c.485G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000379801.2:p.Arg162Gln"
          },
          "RefSeq": {
            "hgvs": "NP_001020560.1:p.Arg162Gln"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 619,
          "referenceAllele": "G",
          "start": 618
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000470",
      "geneNCBI_id": 272,
      "geneSymbol": "AMPD3",
      "hgvs": [
        "ENST00000396553.6:c.485G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379801.2:p.Arg162Gln",
        "hgvsWellDefined": "ENSP00000379801.2:p.Arg162Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277324"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 853,
          "referenceAllele": "G",
          "start": 852
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000470",
      "geneNCBI_id": 272,
      "geneSymbol": "AMPD3",
      "hgvs": [
        "ENST00000396554.7:c.512G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379802.3:p.Arg171Gln",
        "hgvsWellDefined": "ENSP00000379802.3:p.Arg171Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277325"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 480,
          "referenceAllele": "G",
          "start": 479
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000470",
      "geneNCBI_id": 272,
      "geneSymbol": "AMPD3",
      "hgvs": [
        "ENST00000444303.6:c.8G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000396000.2:p.Arg3Gln",
        "hgvsWellDefined": "ENSP00000396000.2:p.Arg3Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS297745"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 664,
          "referenceAllele": "G",
          "start": 663
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000470",
      "geneNCBI_id": 272,
      "geneSymbol": "AMPD3",
      "hgvs": [
        "ENST00000524866.5:c.485G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000433284.1:p.Arg162Gln",
        "hgvsWellDefined": "ENSP00000433284.1:p.Arg162Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS350963"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 707,
          "referenceAllele": "G",
          "start": 706
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000470",
      "geneNCBI_id": 272,
      "geneSymbol": "AMPD3",
      "hgvs": [
        "ENST00000528723.5:c.506G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000436987.1:p.Arg169Gln",
        "hgvsWellDefined": "ENSP00000436987.1:p.Arg169Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS354218"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 775,
          "referenceAllele": "G",
          "start": 774
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000470",
      "geneNCBI_id": 272,
      "geneSymbol": "AMPD3",
      "hgvs": [
        "ENST00000529507.5:c.485G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000431648.1:p.Arg162Gln",
        "hgvsWellDefined": "ENSP00000431648.1:p.Arg162Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS354885"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 532,
          "referenceAllele": "G",
          "start": 531
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000470",
      "geneNCBI_id": 272,
      "geneSymbol": "AMPD3",
      "hgvs": [
        "ENST00000529834.5:c.485G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435382.1:p.Arg162Gln",
        "hgvsWellDefined": "ENSP00000435382.1:p.Arg162Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS355180"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 480,
          "referenceAllele": "G",
          "start": 479
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000470",
      "geneNCBI_id": 272,
      "geneSymbol": "AMPD3",
      "hgvs": [
        "ENST00000529835.6:n.480G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS355181"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 239,
          "referenceAllele": "G",
          "start": 238
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000470",
      "geneNCBI_id": 272,
      "geneSymbol": "AMPD3",
      "hgvs": [
        "ENST00000531227.1:n.239G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS356355"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 592,
          "referenceAllele": "G",
          "start": 591
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000470",
      "geneNCBI_id": 272,
      "geneSymbol": "AMPD3",
      "hgvs": [
        "ENST00000534047.5:c.512G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000433937.1:p.Arg171Gln",
        "hgvsWellDefined": "ENSP00000433937.1:p.Arg171Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS358722"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645471807",
      "coordinates": [
        {
          "allele": "A",
          "end": 857,
          "referenceAllele": "G",
          "start": 856
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000470",
      "geneNCBI_id": 272,
      "geneSymbol": "AMPD3",
      "hgvs": [
        "NM_000480.2:c.512G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000471.1:p.Arg171Gln",
        "hgvsWellDefined": "NP_000471.1:p.Arg171Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006534"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825341317",
      "coordinates": [
        {
          "allele": "A",
          "end": 820,
          "referenceAllele": "G",
          "start": 819
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000470",
      "geneNCBI_id": 272,
      "geneSymbol": "AMPD3",
      "hgvs": [
        "NM_001025389.1:c.485G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001020560.1:p.Arg162Gln",
        "hgvsWellDefined": "NP_001020560.1:p.Arg162Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008886"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825341416",
      "coordinates": [
        {
          "allele": "A",
          "end": 959,
          "referenceAllele": "G",
          "start": 958
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000470",
      "geneNCBI_id": 272,
      "geneSymbol": "AMPD3",
      "hgvs": [
        "NM_001025390.1:c.506G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001020561.1:p.Arg169Gln",
        "hgvsWellDefined": "NP_001020561.1:p.Arg169Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008887"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826064468",
      "coordinates": [
        {
          "allele": "A",
          "end": 784,
          "referenceAllele": "G",
          "start": 783
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000470",
      "geneNCBI_id": 272,
      "geneSymbol": "AMPD3",
      "hgvs": [
        "NM_001172430.1:c.485G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001165901.1:p.Arg162Gln",
        "hgvsWellDefined": "NP_001165901.1:p.Arg162Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015460"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915992535",
      "coordinates": [
        {
          "allele": "A",
          "end": 480,
          "referenceAllele": "G",
          "start": 479
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000470",
      "geneNCBI_id": 272,
      "geneSymbol": "AMPD3",
      "hgvs": [
        "NM_001172431.1:c.8G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001165902.1:p.Arg3Gln",
        "hgvsWellDefined": "NP_001165902.1:p.Arg3Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015461"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645471807",
      "coordinates": [
        {
          "allele": "A",
          "end": 843,
          "referenceAllele": "G",
          "start": 842
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000470",
      "geneNCBI_id": 272,
      "geneSymbol": "AMPD3",
      "hgvs": [
        "NM_000480.3:c.512G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000471.1:p.Arg171Gln",
        "hgvsWellDefined": "NP_000471.1:p.Arg171Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674861"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825341317",
      "coordinates": [
        {
          "allele": "A",
          "end": 675,
          "referenceAllele": "G",
          "start": 674
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000470",
      "geneNCBI_id": 272,
      "geneSymbol": "AMPD3",
      "hgvs": [
        "NM_001025389.2:c.485G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001020560.1:p.Arg162Gln",
        "hgvsWellDefined": "NP_001020560.1:p.Arg162Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675688",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000396553.7:c.485G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001025389.2:c.485G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000379801.2:p.Arg162Gln"
          },
          "RefSeq": {
            "hgvs": "NP_001020560.1:p.Arg162Gln"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825341416",
      "coordinates": [
        {
          "allele": "A",
          "end": 837,
          "referenceAllele": "G",
          "start": 836
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000470",
      "geneNCBI_id": 272,
      "geneSymbol": "AMPD3",
      "hgvs": [
        "NM_001025390.2:c.506G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001020561.1:p.Arg169Gln",
        "hgvsWellDefined": "NP_001020561.1:p.Arg169Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675689"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915992535",
      "coordinates": [
        {
          "allele": "A",
          "end": 413,
          "referenceAllele": "G",
          "start": 412
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000470",
      "geneNCBI_id": 272,
      "geneSymbol": "AMPD3",
      "hgvs": [
        "NM_001172431.2:c.8G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001165902.1:p.Arg3Gln",
        "hgvsWellDefined": "NP_001165902.1:p.Arg3Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713425"
    }
  ],
  "type": "nucleotide"
}