{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA251722",
  "communityStandardTitle": [
    "NM_032193.4(RNASEH2C):c.428A>T (p.Lys143Ile)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=16300[alleleid]",
        "alleleId": 16300,
        "preferredName": "NM_032193.4(RNASEH2C):c.428A>T (p.Lys143Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1261",
        "RCV": [
          "RCV000001323"
        ],
        "variationId": 1261
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/11-65487556-T-A",
        "id": "11-65487556-T-A",
        "variant": "11:65487556 T / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.65487556T>A?assembly=hg19",
        "id": "chr11:g.65487556T>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.65720085T>A?assembly=hg38",
        "id": "chr11:g.65720085T>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/75146158",
        "rs": 75146158
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-65487556-T-A?dataset=gnomad_r2_1",
        "id": "11-65487556-T-A",
        "variant": "11:65487556 T / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-65720085-T-A?dataset=gnomad_r3",
        "id": "11-65720085-T-A",
        "variant": "11:65720085 T / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-65720085-T-A?dataset=gnomad_r4",
        "id": "11-65720085-T-A",
        "variant": "11:65720085 T / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 65720085,
          "referenceAllele": "T",
          "start": 65720084
        }
      ],
      "hgvs": [
        "NC_000011.10:g.65720085T>A",
        "CM000673.2:g.65720085T>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 65487556,
          "referenceAllele": "T",
          "start": 65487555
        }
      ],
      "hgvs": [
        "NC_000011.9:g.65487556T>A",
        "CM000673.1:g.65487556T>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 65244132,
          "referenceAllele": "T",
          "start": 65244131
        }
      ],
      "hgvs": [
        "NC_000011.8:g.65244132T>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5854,
          "referenceAllele": "A",
          "start": 5853
        }
      ],
      "hgvs": [
        "NG_008976.2:g.5854A>T",
        "LRG_280:g.5854A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001347"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 13084,
          "referenceAllele": "T",
          "start": 13083
        }
      ],
      "hgvs": [
        "NG_033057.1:g.13084T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005389"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 468,
          "referenceAllele": "A",
          "start": 467
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024116",
      "geneNCBI_id": 84153,
      "geneSymbol": "RNASEH2C",
      "hgvs": [
        "ENST00000308418.10:c.428A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000308193.5:p.Lys143Ile",
        "hgvsWellDefined": "ENSP00000308193.5:p.Lys143Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745463",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000308418.10:c.428A>T"
          },
          "RefSeq": {
            "hgvs": "NM_032193.4:c.428A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000308193.5:p.Lys143Ile"
          },
          "RefSeq": {
            "hgvs": "NP_115569.2:p.Lys143Ile"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 657,
          "referenceAllele": "A",
          "start": 656
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024116",
      "geneNCBI_id": 84153,
      "geneSymbol": "RNASEH2C",
      "hgvs": [
        "ENST00000528220.2:n.657A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS759068"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 468,
          "referenceAllele": "A",
          "start": 467
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024116",
      "geneNCBI_id": 84153,
      "geneSymbol": "RNASEH2C",
      "hgvs": [
        "ENST00000531596.6:c.428A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435717.2:p.Lys143Ile",
        "hgvsWellDefined": "ENSP00000435717.2:p.Lys143Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759243"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 468,
          "referenceAllele": "A",
          "start": 467
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024116",
      "geneNCBI_id": 84153,
      "geneSymbol": "RNASEH2C",
      "hgvs": [
        "ENST00000534482.6:c.428A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000432081.2:p.Lys143Ile",
        "hgvsWellDefined": "ENSP00000432081.2:p.Lys143Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759399"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 321,
          "referenceAllele": "A",
          "start": 320
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024116",
      "geneNCBI_id": 84153,
      "geneSymbol": "RNASEH2C",
      "hgvs": [
        "ENST00000642430.1:n.321A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766738"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 502,
          "referenceAllele": "A",
          "start": 501
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024116",
      "geneNCBI_id": 84153,
      "geneSymbol": "RNASEH2C",
      "hgvs": [
        "ENST00000643214.1:n.502A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767154"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 473,
          "referenceAllele": "A",
          "start": 472
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024116",
      "geneNCBI_id": 84153,
      "geneSymbol": "RNASEH2C",
      "hgvs": [
        "ENST00000644142.1:c.428A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493695.1:p.Lys143Ile",
        "hgvsWellDefined": "ENSP00000493695.1:p.Lys143Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767657"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 325,
          "referenceAllele": "A",
          "start": 324
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024116",
      "geneNCBI_id": 84153,
      "geneSymbol": "RNASEH2C",
      "hgvs": [
        "ENST00000644198.1:n.325A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767691"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 365,
          "referenceAllele": "A",
          "start": 364
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024116",
      "geneNCBI_id": 84153,
      "geneSymbol": "RNASEH2C",
      "hgvs": [
        "ENST00000646597.1:n.365A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768964"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 617,
          "referenceAllele": "A",
          "start": 616
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024116",
      "geneNCBI_id": 84153,
      "geneSymbol": "RNASEH2C",
      "hgvs": [
        "ENST00000308418.8:c.428A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000308193.4:p.Lys143Ile",
        "hgvsWellDefined": "ENSP00000308193.4:p.Lys143Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256054"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 471,
          "referenceAllele": "A",
          "start": 470
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024116",
      "geneNCBI_id": 84153,
      "geneSymbol": "RNASEH2C",
      "hgvs": [
        "ENST00000527610.1:c.428A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000432897.1:p.Lys143Ile",
        "hgvsWellDefined": "ENSP00000432897.1:p.Lys143Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS353283"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 657,
          "referenceAllele": "A",
          "start": 656
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024116",
      "geneNCBI_id": 84153,
      "geneSymbol": "RNASEH2C",
      "hgvs": [
        "ENST00000528220.1:c.179A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000431555.1:p.Lys60Ile",
        "hgvsWellDefined": "ENSP00000431555.1:p.Lys60Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS353789"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 545,
          "referenceAllele": "A",
          "start": 544
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024116",
      "geneNCBI_id": 84153,
      "geneSymbol": "RNASEH2C",
      "hgvs": [
        "ENST00000530192.1:n.545A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS355486"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 409,
          "referenceAllele": "A",
          "start": 408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024116",
      "geneNCBI_id": 84153,
      "geneSymbol": "RNASEH2C",
      "hgvs": [
        "ENST00000531596.5:c.409A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS356667"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 307,
          "referenceAllele": "A",
          "start": 306
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024116",
      "geneNCBI_id": 84153,
      "geneSymbol": "RNASEH2C",
      "hgvs": [
        "ENST00000533698.5:c.307A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS358428"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 322,
          "referenceAllele": "A",
          "start": 321
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024116",
      "geneNCBI_id": 84153,
      "geneSymbol": "RNASEH2C",
      "hgvs": [
        "ENST00000534482.5:c.322A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS359088"
    },
    {
      "@id": "http://reg.genome.network/allele/PA094361",
      "coordinates": [
        {
          "allele": "T",
          "end": 608,
          "referenceAllele": "A",
          "start": 607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024116",
      "geneNCBI_id": 84153,
      "geneSymbol": "RNASEH2C",
      "hgvs": [
        "NM_032193.3:c.428A>T",
        "LRG_280t1:c.428A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_115569.2:p.Lys143Ile",
        "hgvsWellDefined": "NP_115569.2:p.Lys143Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS038907"
    },
    {
      "@id": "http://reg.genome.network/allele/PA094361",
      "coordinates": [
        {
          "allele": "T",
          "end": 468,
          "referenceAllele": "A",
          "start": 467
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024116",
      "geneNCBI_id": 84153,
      "geneSymbol": "RNASEH2C",
      "hgvs": [
        "NM_032193.4:c.428A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_115569.2:p.Lys143Ile",
        "hgvsWellDefined": "NP_115569.2:p.Lys143Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699051",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000308418.10:c.428A>T"
          },
          "RefSeq": {
            "hgvs": "NM_032193.4:c.428A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000308193.5:p.Lys143Ile"
          },
          "RefSeq": {
            "hgvs": "NP_115569.2:p.Lys143Ile"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}