{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA392070998",
  "communityStandardTitle": [
    "NM_174916.3(UBR1):c.2261G>A (p.Arg754His)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1017915[alleleid]",
        "alleleId": 1017915,
        "preferredName": "NM_174916.3(UBR1):c.2261G>A (p.Arg754His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1029284",
        "RCV": [
          "RCV001330528",
          "RCV001859277"
        ],
        "variationId": 1029284
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.43322260C>T?assembly=hg19",
        "id": "chr15:g.43322260C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.43030062C>T?assembly=hg38",
        "id": "chr15:g.43030062C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1567131023",
        "rs": 1567131023
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-43030062-C-T?dataset=gnomad_r4",
        "id": "15-43030062-C-T",
        "variant": "15:43030062 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 43030062,
          "referenceAllele": "C",
          "start": 43030061
        }
      ],
      "hgvs": [
        "NC_000015.10:g.43030062C>T",
        "CM000677.2:g.43030062C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 43322260,
          "referenceAllele": "C",
          "start": 43322259
        }
      ],
      "hgvs": [
        "NC_000015.9:g.43322260C>T",
        "CM000677.1:g.43322260C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 41109552,
          "referenceAllele": "C",
          "start": 41109551
        }
      ],
      "hgvs": [
        "NC_000015.8:g.41109552C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 81027,
          "referenceAllele": "G",
          "start": 81026
        }
      ],
      "hgvs": [
        "NG_012182.1:g.81027G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002265"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2277,
          "referenceAllele": "G",
          "start": 2276
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016808",
      "geneNCBI_id": 197131,
      "geneSymbol": "UBR1",
      "hgvs": [
        "ENST00000290650.9:c.2261G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000290650.4:p.Arg754His",
        "hgvsWellDefined": "ENSP00000290650.4:p.Arg754His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744036",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000290650.9:c.2261G>A"
          },
          "RefSeq": {
            "hgvs": "NM_174916.3:c.2261G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000290650.4:p.Arg754His"
          },
          "RefSeq": {
            "hgvs": "NP_777576.1:p.Arg754His"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2340,
          "referenceAllele": "G",
          "start": 2339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016808",
      "geneNCBI_id": 197131,
      "geneSymbol": "UBR1",
      "hgvs": [
        "ENST00000290650.8:c.2261G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000290650.4:p.Arg754His",
        "hgvsWellDefined": "ENSP00000290650.4:p.Arg754His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253673"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2352,
          "referenceAllele": "G",
          "start": 2351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016808",
      "geneNCBI_id": 197131,
      "geneSymbol": "UBR1",
      "hgvs": [
        "ENST00000546274.6:c.2261G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000477932.1:p.Arg754His",
        "hgvsWellDefined": "ENSP00000477932.1:p.Arg754His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS365537"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 296,
          "referenceAllele": "G",
          "start": 295
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016808",
      "geneNCBI_id": 197131,
      "geneSymbol": "UBR1",
      "hgvs": [
        "ENST00000569066.2:c.296G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000456327.1:p.Arg99His",
        "hgvsWellDefined": "ENSP00000456327.1:p.Arg99His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS381216"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499301089",
      "coordinates": [
        {
          "allele": "A",
          "end": 2327,
          "referenceAllele": "G",
          "start": 2326
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016808",
      "geneNCBI_id": 197131,
      "geneSymbol": "UBR1",
      "hgvs": [
        "NM_174916.2:c.2261G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_777576.1:p.Arg754His",
        "hgvsWellDefined": "NP_777576.1:p.Arg754His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043092"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499301089",
      "coordinates": [
        {
          "allele": "A",
          "end": 2277,
          "referenceAllele": "G",
          "start": 2276
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016808",
      "geneNCBI_id": 197131,
      "geneSymbol": "UBR1",
      "hgvs": [
        "NM_174916.3:c.2261G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_777576.1:p.Arg754His",
        "hgvsWellDefined": "NP_777576.1:p.Arg754His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS672747",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000290650.9:c.2261G>A"
          },
          "RefSeq": {
            "hgvs": "NM_174916.3:c.2261G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000290650.4:p.Arg754His"
          },
          "RefSeq": {
            "hgvs": "NP_777576.1:p.Arg754His"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}