{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA404270021",
  "communityStandardTitle": [
    "NM_006397.3(RNASEH2A):c.872G>T (p.Arg291Leu)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=938581[alleleid]",
        "alleleId": 938581,
        "preferredName": "NM_006397.3(RNASEH2A):c.872G>T (p.Arg291Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/940810",
        "RCV": [
          "RCV001210471"
        ],
        "variationId": 940810
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.12924252G>T?assembly=hg19",
        "id": "chr19:g.12924252G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.12813438G>T?assembly=hg38",
        "id": "chr19:g.12813438G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/75037667",
        "rs": 75037667
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-12813438-G-T?dataset=gnomad_r4",
        "id": "19-12813438-G-T",
        "variant": "19:12813438 G / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 12813438,
          "referenceAllele": "G",
          "start": 12813437
        }
      ],
      "hgvs": [
        "NC_000019.10:g.12813438G>T",
        "CM000681.2:g.12813438G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 12924252,
          "referenceAllele": "G",
          "start": 12924251
        }
      ],
      "hgvs": [
        "NC_000019.9:g.12924252G>T",
        "CM000681.1:g.12924252G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 12785252,
          "referenceAllele": "G",
          "start": 12785251
        }
      ],
      "hgvs": [
        "NC_000019.8:g.12785252G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 11825,
          "referenceAllele": "G",
          "start": 11824
        }
      ],
      "hgvs": [
        "NG_012662.1:g.11825G>T",
        "LRG_278:g.11825G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002510"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 962,
          "referenceAllele": "G",
          "start": 961
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018518",
      "geneNCBI_id": 10535,
      "geneSymbol": "RNASEH2A",
      "hgvs": [
        "ENST00000221486.6:c.872G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000221486.4:p.Arg291Leu",
        "hgvsWellDefined": "ENSP00000221486.4:p.Arg291Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740509",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000221486.6:c.872G>T"
          },
          "RefSeq": {
            "hgvs": "NM_006397.3:c.872G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000221486.4:p.Arg291Leu"
          },
          "RefSeq": {
            "hgvs": "NP_006388.2:p.Arg291Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1158,
          "referenceAllele": "G",
          "start": 1157
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018518",
      "geneNCBI_id": 10535,
      "geneSymbol": "RNASEH2A",
      "hgvs": [
        "ENST00000593017.2:n.1158G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS761303"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1108,
          "referenceAllele": "G",
          "start": 1107
        }
      ],
      "gene": "http://reg.genome.network/gene/GN053785",
      "geneNCBI_id": 111644133,
      "geneSymbol": "THSD8",
      "hgvs": [
        "ENST00000639767.2:c.*751G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491410.2:n.*751G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765164"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 907,
          "referenceAllele": "G",
          "start": 906
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018518",
      "geneNCBI_id": 10535,
      "geneSymbol": "RNASEH2A",
      "hgvs": [
        "ENST00000643757.1:n.907G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767453"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 966,
          "referenceAllele": "G",
          "start": 965
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018518",
      "geneNCBI_id": 10535,
      "geneSymbol": "RNASEH2A",
      "hgvs": [
        "ENST00000221486.4:c.872G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000221486.3:p.Arg291Leu",
        "hgvsWellDefined": "ENSP00000221486.3:p.Arg291Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248291"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 41,
          "endIntronDirection": "+",
          "endIntronOffset": 11740,
          "referenceAllele": "C",
          "start": 41,
          "startIntronDirection": "+",
          "startIntronOffset": 11739
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019885",
      "geneNCBI_id": 29911,
      "geneSymbol": "HOOK2",
      "hgvs": [
        "ENST00000589765.1:n.41+11740C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS391723"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1287,
          "referenceAllele": "G",
          "start": 1286
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018518",
      "geneNCBI_id": 10535,
      "geneSymbol": "RNASEH2A",
      "hgvs": [
        "ENST00000593017.1:n.1287G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS393955"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139709599",
      "coordinates": [
        {
          "allele": "T",
          "end": 932,
          "referenceAllele": "G",
          "start": 931
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018518",
      "geneNCBI_id": 10535,
      "geneSymbol": "RNASEH2A",
      "hgvs": [
        "NM_006397.2:c.872G>T",
        "LRG_278t1:c.872G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_006388.2:p.Arg291Leu",
        "hgvsWellDefined": "NP_006388.2:p.Arg291Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031412"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1117,
          "referenceAllele": "G",
          "start": 1116
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018518",
      "geneNCBI_id": 10535,
      "geneSymbol": "RNASEH2A",
      "hgvs": [
        "XM_006722619.2:c.740G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006722682.1:p.Arg247Leu",
        "hgvsWellDefined": "XP_006722682.1:p.Arg247Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074648"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139709599",
      "coordinates": [
        {
          "allele": "T",
          "end": 962,
          "referenceAllele": "G",
          "start": 961
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018518",
      "geneNCBI_id": 10535,
      "geneSymbol": "RNASEH2A",
      "hgvs": [
        "NM_006397.3:c.872G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_006388.2:p.Arg291Leu",
        "hgvsWellDefined": "NP_006388.2:p.Arg291Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696700",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000221486.6:c.872G>T"
          },
          "RefSeq": {
            "hgvs": "NM_006397.3:c.872G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000221486.4:p.Arg291Leu"
          },
          "RefSeq": {
            "hgvs": "NP_006388.2:p.Arg291Leu"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}