{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA406047298",
  "communityStandardTitle": [
    "NM_001022.4(RPS19):c.167G>T (p.Arg56Leu)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1837815[alleleid]",
        "alleleId": 1837815,
        "preferredName": "NM_001022.4(RPS19):c.167G>T (p.Arg56Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1777881",
        "RCV": [
          "RCV002406012"
        ],
        "variationId": 1777881
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.42365276G>T?assembly=hg19",
        "id": "chr19:g.42365276G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.41861207G>T?assembly=hg38",
        "id": "chr19:g.41861207G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2513667441",
        "rs": 2513667441
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 41861207,
          "referenceAllele": "G",
          "start": 41861206
        }
      ],
      "hgvs": [
        "NC_000019.10:g.41861207G>T",
        "CM000681.2:g.41861207G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 42365276,
          "referenceAllele": "G",
          "start": 42365275
        }
      ],
      "hgvs": [
        "NC_000019.9:g.42365276G>T",
        "CM000681.1:g.42365276G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 47057116,
          "referenceAllele": "G",
          "start": 47057115
        }
      ],
      "hgvs": [
        "NC_000019.8:g.47057116G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6289,
          "referenceAllele": "G",
          "start": 6288
        }
      ],
      "hgvs": [
        "NG_007080.2:g.6289G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000460"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6290,
          "referenceAllele": "G",
          "start": 6289
        }
      ],
      "hgvs": [
        "NG_007080.3:g.6290G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616064"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 179,
          "referenceAllele": "G",
          "start": 178
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010402",
      "geneNCBI_id": 6223,
      "geneSymbol": "RPS19",
      "hgvs": [
        "ENST00000598261.2:c.167G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000469798.1:p.Arg56Leu",
        "hgvsWellDefined": "ENSP00000469798.1:p.Arg56Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761448"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 202,
          "referenceAllele": "G",
          "start": 201
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010402",
      "geneNCBI_id": 6223,
      "geneSymbol": "RPS19",
      "hgvs": [
        "ENST00000598742.6:c.167G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000470972.1:p.Arg56Leu",
        "hgvsWellDefined": "ENSP00000470972.1:p.Arg56Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761469",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000598742.6:c.167G>T"
          },
          "RefSeq": {
            "hgvs": "NM_001022.4:c.167G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000470972.1:p.Arg56Leu"
          },
          "RefSeq": {
            "hgvs": "NP_001013.1:p.Arg56Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 358,
          "referenceAllele": "G",
          "start": 357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010402",
      "geneNCBI_id": 6223,
      "geneSymbol": "RPS19",
      "hgvs": [
        "ENST00000600467.6:c.167G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000469228.2:p.Arg56Leu",
        "hgvsWellDefined": "ENSP00000469228.2:p.Arg56Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761515"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 190,
          "referenceAllele": "G",
          "start": 189
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010402",
      "geneNCBI_id": 6223,
      "geneSymbol": "RPS19",
      "hgvs": [
        "ENST00000221975.6:c.-56G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000221975.2:n.-56G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248331"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 216,
          "referenceAllele": "G",
          "start": 215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010402",
      "geneNCBI_id": 6223,
      "geneSymbol": "RPS19",
      "hgvs": [
        "ENST00000593863.5:c.167G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000470004.1:p.Arg56Leu",
        "hgvsWellDefined": "ENSP00000470004.1:p.Arg56Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS394385"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 173,
          "referenceAllele": "G",
          "start": 172
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010402",
      "geneNCBI_id": 6223,
      "geneSymbol": "RPS19",
      "hgvs": [
        "ENST00000598261.1:c.167G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000469798.1:p.Arg56Leu",
        "hgvsWellDefined": "ENSP00000469798.1:p.Arg56Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS396322"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 164,
          "referenceAllele": "G",
          "start": 163
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010402",
      "geneNCBI_id": 6223,
      "geneSymbol": "RPS19",
      "hgvs": [
        "ENST00000598399.1:c.164G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000472660.1:p.Arg55Leu",
        "hgvsWellDefined": "ENSP00000472660.1:p.Arg55Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS396385"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 202,
          "referenceAllele": "G",
          "start": 201
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010402",
      "geneNCBI_id": 6223,
      "geneSymbol": "RPS19",
      "hgvs": [
        "ENST00000598466.5:n.202G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS396415"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 539,
          "referenceAllele": "G",
          "start": 538
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010402",
      "geneNCBI_id": 6223,
      "geneSymbol": "RPS19",
      "hgvs": [
        "ENST00000598742.5:c.167G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000470972.1:p.Arg56Leu",
        "hgvsWellDefined": "ENSP00000470972.1:p.Arg56Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS396529"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 358,
          "referenceAllele": "G",
          "start": 357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010402",
      "geneNCBI_id": 6223,
      "geneSymbol": "RPS19",
      "hgvs": [
        "ENST00000600467.5:c.167G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000469228.1:p.Arg56Leu",
        "hgvsWellDefined": "ENSP00000469228.1:p.Arg56Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS397302"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 202,
          "referenceAllele": "G",
          "start": 201
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010402",
      "geneNCBI_id": 6223,
      "geneSymbol": "RPS19",
      "hgvs": [
        "ENST00000601492.5:c.167G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000471621.1:p.Arg56Leu",
        "hgvsWellDefined": "ENSP00000471621.1:p.Arg56Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS397756"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825299255",
      "coordinates": [
        {
          "allele": "T",
          "end": 539,
          "referenceAllele": "G",
          "start": 538
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010402",
      "geneNCBI_id": 6223,
      "geneSymbol": "RPS19",
      "hgvs": [
        "NM_001022.3:c.167G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001013.1:p.Arg56Leu",
        "hgvsWellDefined": "NP_001013.1:p.Arg56Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008724"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827111071",
      "coordinates": [
        {
          "allele": "T",
          "end": 216,
          "referenceAllele": "G",
          "start": 215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010402",
      "geneNCBI_id": 6223,
      "geneSymbol": "RPS19",
      "hgvs": [
        "NM_001321483.1:c.167G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308412.1:p.Arg56Leu",
        "hgvsWellDefined": "NP_001308412.1:p.Arg56Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514307"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827111265",
      "coordinates": [
        {
          "allele": "T",
          "end": 346,
          "referenceAllele": "G",
          "start": 345
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010402",
      "geneNCBI_id": 6223,
      "geneSymbol": "RPS19",
      "hgvs": [
        "NM_001321484.1:c.167G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308413.1:p.Arg56Leu",
        "hgvsWellDefined": "NP_001308413.1:p.Arg56Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514308"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580210372",
      "coordinates": [
        {
          "allele": "T",
          "end": 539,
          "referenceAllele": "G",
          "start": 538
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010402",
      "geneNCBI_id": 6223,
      "geneSymbol": "RPS19",
      "hgvs": [
        "NM_001321485.1:c.167G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308414.1:p.Arg56Leu",
        "hgvsWellDefined": "NP_001308414.1:p.Arg56Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514309"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 200,
          "referenceAllele": "G",
          "start": 199
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010402",
      "geneNCBI_id": 6223,
      "geneSymbol": "RPS19",
      "hgvs": [
        "XM_017027113.2:c.167G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016882602.1:p.Arg56Leu",
        "hgvsWellDefined": "XP_016882602.1:p.Arg56Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS577107"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825299255",
      "coordinates": [
        {
          "allele": "T",
          "end": 202,
          "referenceAllele": "G",
          "start": 201
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010402",
      "geneNCBI_id": 6223,
      "geneSymbol": "RPS19",
      "hgvs": [
        "NM_001022.4:c.167G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001013.1:p.Arg56Leu",
        "hgvsWellDefined": "NP_001013.1:p.Arg56Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675606",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000598742.6:c.167G>T"
          },
          "RefSeq": {
            "hgvs": "NM_001022.4:c.167G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000470972.1:p.Arg56Leu"
          },
          "RefSeq": {
            "hgvs": "NP_001013.1:p.Arg56Leu"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827111071",
      "coordinates": [
        {
          "allele": "T",
          "end": 258,
          "referenceAllele": "G",
          "start": 257
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010402",
      "geneNCBI_id": 6223,
      "geneSymbol": "RPS19",
      "hgvs": [
        "NM_001321483.2:c.167G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308412.1:p.Arg56Leu",
        "hgvsWellDefined": "NP_001308412.1:p.Arg56Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685350"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827111265",
      "coordinates": [
        {
          "allele": "T",
          "end": 358,
          "referenceAllele": "G",
          "start": 357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010402",
      "geneNCBI_id": 6223,
      "geneSymbol": "RPS19",
      "hgvs": [
        "NM_001321484.2:c.167G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308413.1:p.Arg56Leu",
        "hgvsWellDefined": "NP_001308413.1:p.Arg56Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685351"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580210372",
      "coordinates": [
        {
          "allele": "T",
          "end": 202,
          "referenceAllele": "G",
          "start": 201
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010402",
      "geneNCBI_id": 6223,
      "geneSymbol": "RPS19",
      "hgvs": [
        "NM_001321485.2:c.167G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308414.1:p.Arg56Leu",
        "hgvsWellDefined": "NP_001308414.1:p.Arg56Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685352"
    }
  ],
  "type": "nucleotide"
}