{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA200314095",
  "communityStandardTitle": [
    "NM_001114753.3(ENG):c.575G>A (p.Arg192His)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=637702[alleleid]",
        "alleleId": 637702,
        "preferredName": "NM_001114753.3(ENG):c.575G>A (p.Arg192His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/644991",
        "RCV": [
          "RCV000799001",
          "RCV002345775"
        ],
        "variationId": 644991
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.130588088C>T?assembly=hg19",
        "id": "chr9:g.130588088C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.127825809C>T?assembly=hg38",
        "id": "chr9:g.127825809C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1029569378",
        "rs": 1029569378
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-130588088-C-T?dataset=gnomad_r2_1",
        "id": "9-130588088-C-T",
        "variant": "9:130588088 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-127825809-C-T?dataset=gnomad_r3",
        "id": "9-127825809-C-T",
        "variant": "9:127825809 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-127825809-C-T?dataset=gnomad_r4",
        "id": "9-127825809-C-T",
        "variant": "9:127825809 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 127825809,
          "referenceAllele": "C",
          "start": 127825808
        }
      ],
      "hgvs": [
        "NC_000009.12:g.127825809C>T",
        "CM000671.2:g.127825809C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 130588088,
          "referenceAllele": "C",
          "start": 130588087
        }
      ],
      "hgvs": [
        "NC_000009.11:g.130588088C>T",
        "CM000671.1:g.130588088C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 129627909,
          "referenceAllele": "C",
          "start": 129627908
        }
      ],
      "hgvs": [
        "NC_000009.10:g.129627909C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 33960,
          "referenceAllele": "G",
          "start": 33959
        }
      ],
      "hgvs": [
        "NG_009551.1:g.33960G>A",
        "LRG_589:g.33960G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001605"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 737,
          "referenceAllele": "G",
          "start": 736
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003349",
      "geneNCBI_id": 2022,
      "geneSymbol": "ENG",
      "hgvs": [
        "ENST00000480266.6:c.29G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479015.1:p.Arg10His",
        "hgvsWellDefined": "ENSP00000479015.1:p.Arg10His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914135"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 878,
          "referenceAllele": "G",
          "start": 877
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003349",
      "geneNCBI_id": 2022,
      "geneSymbol": "ENG",
      "hgvs": [
        "ENST00000373203.9:c.575G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362299.4:p.Arg192His",
        "hgvsWellDefined": "ENSP00000362299.4:p.Arg192His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751176",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000373203.9:c.575G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001114753.3:c.575G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000362299.4:p.Arg192His"
          },
          "RefSeq": {
            "hgvs": "NP_001108225.1:p.Arg192His"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 856,
          "referenceAllele": "G",
          "start": 855
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003349",
      "geneNCBI_id": 2022,
      "geneSymbol": "ENG",
      "hgvs": [
        "ENST00000344849.4:c.575G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000341917.3:p.Arg192His",
        "hgvsWellDefined": "ENSP00000341917.3:p.Arg192His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262075"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 976,
          "referenceAllele": "G",
          "start": 975
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003349",
      "geneNCBI_id": 2022,
      "geneSymbol": "ENG",
      "hgvs": [
        "ENST00000373203.8:c.575G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362299.4:p.Arg192His",
        "hgvsWellDefined": "ENSP00000362299.4:p.Arg192His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269560"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 475,
          "referenceAllele": "G",
          "start": 474
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003349",
      "geneNCBI_id": 2022,
      "geneSymbol": "ENG",
      "hgvs": [
        "ENST00000462196.1:n.475G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS306511"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 733,
          "referenceAllele": "G",
          "start": 732
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003349",
      "geneNCBI_id": 2022,
      "geneSymbol": "ENG",
      "hgvs": [
        "ENST00000480266.5:c.29G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479015.1:p.Arg10His",
        "hgvsWellDefined": "ENSP00000479015.1:p.Arg10His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS320452"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825044148",
      "coordinates": [
        {
          "allele": "A",
          "end": 993,
          "referenceAllele": "G",
          "start": 992
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003349",
      "geneNCBI_id": 2022,
      "geneSymbol": "ENG",
      "hgvs": [
        "NM_000118.3:c.575G>A",
        "LRG_589t1:c.575G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000109.1:p.Arg192His",
        "hgvsWellDefined": "NP_000109.1:p.Arg192His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006180"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915976614",
      "coordinates": [
        {
          "allele": "A",
          "end": 993,
          "referenceAllele": "G",
          "start": 992
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003349",
      "geneNCBI_id": 2022,
      "geneSymbol": "ENG",
      "hgvs": [
        "NM_001114753.2:c.575G>A",
        "LRG_589t2:c.575G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001108225.1:p.Arg192His",
        "hgvsWellDefined": "NP_001108225.1:p.Arg192His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011346"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826581316",
      "coordinates": [
        {
          "allele": "A",
          "end": 733,
          "referenceAllele": "G",
          "start": 732
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003349",
      "geneNCBI_id": 2022,
      "geneSymbol": "ENG",
      "hgvs": [
        "NM_001278138.1:c.29G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001265067.1:p.Arg10His",
        "hgvsWellDefined": "NP_001265067.1:p.Arg10His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021073"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 82,
          "endIntronDirection": "+",
          "endIntronOffset": 351,
          "referenceAllele": "C",
          "start": 82,
          "startIntronDirection": "+",
          "startIntronOffset": 350
        }
      ],
      "hgvs": [
        "XR_001746952.2:n.82+351C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS595197"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915976614",
      "coordinates": [
        {
          "allele": "A",
          "end": 878,
          "referenceAllele": "G",
          "start": 877
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003349",
      "geneNCBI_id": 2022,
      "geneSymbol": "ENG",
      "hgvs": [
        "NM_001114753.3:c.575G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001108225.1:p.Arg192His",
        "hgvsWellDefined": "NP_001108225.1:p.Arg192His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712132",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000373203.9:c.575G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001114753.3:c.575G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000362299.4:p.Arg192His"
          },
          "RefSeq": {
            "hgvs": "NP_001108225.1:p.Arg192His"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826581316",
      "coordinates": [
        {
          "allele": "A",
          "end": 701,
          "referenceAllele": "G",
          "start": 700
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003349",
      "geneNCBI_id": 2022,
      "geneSymbol": "ENG",
      "hgvs": [
        "NM_001278138.2:c.29G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001265067.1:p.Arg10His",
        "hgvsWellDefined": "NP_001265067.1:p.Arg10His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715455"
    }
  ],
  "type": "nucleotide"
}