{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA406030502",
  "communityStandardTitle": [
    "NM_001022.4(RPS19):c.302G>A (p.Arg101His)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1329648[alleleid]",
        "alleleId": 1329648,
        "preferredName": "NM_001022.4(RPS19):c.302G>A (p.Arg101His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1338641",
        "RCV": [
          "RCV001818012"
        ],
        "variationId": 1338641
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.42373230G>A?assembly=hg19",
        "id": "chr19:g.42373230G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.41869160G>A?assembly=hg38",
        "id": "chr19:g.41869160G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2123284131",
        "rs": 2123284131
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 41869160,
          "referenceAllele": "G",
          "start": 41869159
        }
      ],
      "hgvs": [
        "NC_000019.10:g.41869160G>A",
        "CM000681.2:g.41869160G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 42373230,
          "referenceAllele": "G",
          "start": 42373229
        }
      ],
      "hgvs": [
        "NC_000019.9:g.42373230G>A",
        "CM000681.1:g.42373230G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 47065070,
          "referenceAllele": "G",
          "start": 47065069
        }
      ],
      "hgvs": [
        "NC_000019.8:g.47065070G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 14243,
          "referenceAllele": "G",
          "start": 14242
        }
      ],
      "hgvs": [
        "NG_007080.2:g.14243G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000460"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 14243,
          "referenceAllele": "G",
          "start": 14242
        }
      ],
      "hgvs": [
        "NG_007080.3:g.14243G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616064"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 337,
          "referenceAllele": "G",
          "start": 336
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010402",
      "geneNCBI_id": 6223,
      "geneSymbol": "RPS19",
      "hgvs": [
        "ENST00000598742.6:c.302G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000470972.1:p.Arg101His",
        "hgvsWellDefined": "ENSP00000470972.1:p.Arg101His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761469",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000598742.6:c.302G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001022.4:c.302G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000470972.1:p.Arg101His"
          },
          "RefSeq": {
            "hgvs": "NP_001013.1:p.Arg101His"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 493,
          "referenceAllele": "G",
          "start": 492
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010402",
      "geneNCBI_id": 6223,
      "geneSymbol": "RPS19",
      "hgvs": [
        "ENST00000600467.6:c.302G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000469228.2:p.Arg101His",
        "hgvsWellDefined": "ENSP00000469228.2:p.Arg101His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761515"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 325,
          "referenceAllele": "G",
          "start": 324
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010402",
      "geneNCBI_id": 6223,
      "geneSymbol": "RPS19",
      "hgvs": [
        "ENST00000221975.6:c.80G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000221975.2:p.Arg27His",
        "hgvsWellDefined": "ENSP00000221975.2:p.Arg27His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248331"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 351,
          "referenceAllele": "G",
          "start": 350
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010402",
      "geneNCBI_id": 6223,
      "geneSymbol": "RPS19",
      "hgvs": [
        "ENST00000593863.5:c.302G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000470004.1:p.Arg101His",
        "hgvsWellDefined": "ENSP00000470004.1:p.Arg101His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS394385"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1140,
          "referenceAllele": "G",
          "start": 1139
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010402",
      "geneNCBI_id": 6223,
      "geneSymbol": "RPS19",
      "hgvs": [
        "ENST00000598399.1:c.1140G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000472660.1:n.1140G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS396385"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 674,
          "referenceAllele": "G",
          "start": 673
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010402",
      "geneNCBI_id": 6223,
      "geneSymbol": "RPS19",
      "hgvs": [
        "ENST00000598742.5:c.302G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000470972.1:p.Arg101His",
        "hgvsWellDefined": "ENSP00000470972.1:p.Arg101His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS396529"
    },
    {
      "@id": "http://reg.genome.network/allele/PA113239",
      "coordinates": [
        {
          "allele": "A",
          "end": 674,
          "referenceAllele": "G",
          "start": 673
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010402",
      "geneNCBI_id": 6223,
      "geneSymbol": "RPS19",
      "hgvs": [
        "NM_001022.3:c.302G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001013.1:p.Arg101His",
        "hgvsWellDefined": "NP_001013.1:p.Arg101His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008724"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827111134",
      "coordinates": [
        {
          "allele": "A",
          "end": 351,
          "referenceAllele": "G",
          "start": 350
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010402",
      "geneNCBI_id": 6223,
      "geneSymbol": "RPS19",
      "hgvs": [
        "NM_001321483.1:c.302G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308412.1:p.Arg101His",
        "hgvsWellDefined": "NP_001308412.1:p.Arg101His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514307"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827111316",
      "coordinates": [
        {
          "allele": "A",
          "end": 481,
          "referenceAllele": "G",
          "start": 480
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010402",
      "geneNCBI_id": 6223,
      "geneSymbol": "RPS19",
      "hgvs": [
        "NM_001321484.1:c.302G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308413.1:p.Arg101His",
        "hgvsWellDefined": "NP_001308413.1:p.Arg101His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514308"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827064514",
      "coordinates": [
        {
          "allele": "A",
          "end": 687,
          "referenceAllele": "G",
          "start": 686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010402",
      "geneNCBI_id": 6223,
      "geneSymbol": "RPS19",
      "hgvs": [
        "NM_001321485.1:c.315G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308414.1:p.Pro105="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514309"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 335,
          "referenceAllele": "G",
          "start": 334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010402",
      "geneNCBI_id": 6223,
      "geneSymbol": "RPS19",
      "hgvs": [
        "XM_017027113.2:c.302G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016882602.1:p.Arg101His",
        "hgvsWellDefined": "XP_016882602.1:p.Arg101His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS577107"
    },
    {
      "@id": "http://reg.genome.network/allele/PA113239",
      "coordinates": [
        {
          "allele": "A",
          "end": 337,
          "referenceAllele": "G",
          "start": 336
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010402",
      "geneNCBI_id": 6223,
      "geneSymbol": "RPS19",
      "hgvs": [
        "NM_001022.4:c.302G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001013.1:p.Arg101His",
        "hgvsWellDefined": "NP_001013.1:p.Arg101His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675606",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000598742.6:c.302G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001022.4:c.302G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000470972.1:p.Arg101His"
          },
          "RefSeq": {
            "hgvs": "NP_001013.1:p.Arg101His"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827111134",
      "coordinates": [
        {
          "allele": "A",
          "end": 393,
          "referenceAllele": "G",
          "start": 392
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010402",
      "geneNCBI_id": 6223,
      "geneSymbol": "RPS19",
      "hgvs": [
        "NM_001321483.2:c.302G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308412.1:p.Arg101His",
        "hgvsWellDefined": "NP_001308412.1:p.Arg101His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685350"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827111316",
      "coordinates": [
        {
          "allele": "A",
          "end": 493,
          "referenceAllele": "G",
          "start": 492
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010402",
      "geneNCBI_id": 6223,
      "geneSymbol": "RPS19",
      "hgvs": [
        "NM_001321484.2:c.302G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308413.1:p.Arg101His",
        "hgvsWellDefined": "NP_001308413.1:p.Arg101His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685351"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827064514",
      "coordinates": [
        {
          "allele": "A",
          "end": 350,
          "referenceAllele": "G",
          "start": 349
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010402",
      "geneNCBI_id": 6223,
      "geneSymbol": "RPS19",
      "hgvs": [
        "NM_001321485.2:c.315G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308414.1:p.Pro105="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685352"
    }
  ],
  "type": "nucleotide"
}