{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA406029867",
  "communityStandardTitle": [
    "NM_001022.4(RPS19):c.184C>A (p.Arg62=)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.42373112C>A?assembly=hg19",
        "id": "chr19:g.42373112C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.41869042C>A?assembly=hg38",
        "id": "chr19:g.41869042C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/104894711",
        "rs": 104894711
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-41869042-C-A?dataset=gnomad_r4",
        "id": "19-41869042-C-A",
        "variant": "19:41869042 C / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 41869042,
          "referenceAllele": "C",
          "start": 41869041
        }
      ],
      "hgvs": [
        "NC_000019.10:g.41869042C>A",
        "CM000681.2:g.41869042C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 42373112,
          "referenceAllele": "C",
          "start": 42373111
        }
      ],
      "hgvs": [
        "NC_000019.9:g.42373112C>A",
        "CM000681.1:g.42373112C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 47064952,
          "referenceAllele": "C",
          "start": 47064951
        }
      ],
      "hgvs": [
        "NC_000019.8:g.47064952C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 14125,
          "referenceAllele": "C",
          "start": 14124
        }
      ],
      "hgvs": [
        "NG_007080.2:g.14125C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000460"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 14125,
          "referenceAllele": "C",
          "start": 14124
        }
      ],
      "hgvs": [
        "NG_007080.3:g.14125C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616064"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 209,
          "referenceAllele": "C",
          "start": 208
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010402",
      "geneNCBI_id": 6223,
      "geneSymbol": "RPS19",
      "hgvs": [
        "ENST00000598261.2:c.197C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000469798.1:p.Ala66Glu",
        "hgvsWellDefined": "ENSP00000469798.1:p.Ala66Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761448"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 219,
          "referenceAllele": "C",
          "start": 218
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010402",
      "geneNCBI_id": 6223,
      "geneSymbol": "RPS19",
      "hgvs": [
        "ENST00000598742.6:c.184C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000470972.1:p.Arg62="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761469",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000598742.6:c.184C>A"
          },
          "RefSeq": {
            "hgvs": "NM_001022.4:c.184C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000470972.1:p.Arg62="
          },
          "RefSeq": {
            "hgvs": "NP_001013.1:p.Arg62="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 375,
          "referenceAllele": "C",
          "start": 374
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010402",
      "geneNCBI_id": 6223,
      "geneSymbol": "RPS19",
      "hgvs": [
        "ENST00000600467.6:c.184C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000469228.2:p.Arg62="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761515"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 207,
          "referenceAllele": "C",
          "start": 206
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010402",
      "geneNCBI_id": 6223,
      "geneSymbol": "RPS19",
      "hgvs": [
        "ENST00000221975.6:c.-39C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000221975.2:n.-39C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248331"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 233,
          "referenceAllele": "C",
          "start": 232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010402",
      "geneNCBI_id": 6223,
      "geneSymbol": "RPS19",
      "hgvs": [
        "ENST00000593863.5:c.184C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000470004.1:p.Arg62="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS394385"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 203,
          "referenceAllele": "C",
          "start": 202
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010402",
      "geneNCBI_id": 6223,
      "geneSymbol": "RPS19",
      "hgvs": [
        "ENST00000598261.1:c.197C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000469798.1:p.Ala66Glu",
        "hgvsWellDefined": "ENSP00000469798.1:p.Ala66Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS396322"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1022,
          "referenceAllele": "C",
          "start": 1021
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010402",
      "geneNCBI_id": 6223,
      "geneSymbol": "RPS19",
      "hgvs": [
        "ENST00000598399.1:c.1022C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000472660.1:n.1022C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS396385"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 556,
          "referenceAllele": "C",
          "start": 555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010402",
      "geneNCBI_id": 6223,
      "geneSymbol": "RPS19",
      "hgvs": [
        "ENST00000598742.5:c.184C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000470972.1:p.Arg62="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS396529"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 375,
          "referenceAllele": "C",
          "start": 374
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010402",
      "geneNCBI_id": 6223,
      "geneSymbol": "RPS19",
      "hgvs": [
        "ENST00000600467.5:c.184C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000469228.1:p.Arg62="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS397302"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 300,
          "referenceAllele": "C",
          "start": 299
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010402",
      "geneNCBI_id": 6223,
      "geneSymbol": "RPS19",
      "hgvs": [
        "ENST00000601492.5:c.265C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000471621.1:p.Arg89="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS397756"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3085868708",
      "coordinates": [
        {
          "allele": "A",
          "end": 556,
          "referenceAllele": "C",
          "start": 555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010402",
      "geneNCBI_id": 6223,
      "geneSymbol": "RPS19",
      "hgvs": [
        "NM_001022.3:c.184C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001013.1:p.Arg62="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008724"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 233,
          "referenceAllele": "C",
          "start": 232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010402",
      "geneNCBI_id": 6223,
      "geneSymbol": "RPS19",
      "hgvs": [
        "NM_001321483.1:c.184C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308412.1:p.Arg62="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514307"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 363,
          "referenceAllele": "C",
          "start": 362
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010402",
      "geneNCBI_id": 6223,
      "geneSymbol": "RPS19",
      "hgvs": [
        "NM_001321484.1:c.184C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308413.1:p.Arg62="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514308"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 569,
          "referenceAllele": "C",
          "start": 568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010402",
      "geneNCBI_id": 6223,
      "geneSymbol": "RPS19",
      "hgvs": [
        "NM_001321485.1:c.197C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308414.1:p.Ala66Glu",
        "hgvsWellDefined": "NP_001308414.1:p.Ala66Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514309"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 217,
          "referenceAllele": "C",
          "start": 216
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010402",
      "geneNCBI_id": 6223,
      "geneSymbol": "RPS19",
      "hgvs": [
        "XM_017027113.2:c.184C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016882602.1:p.Arg62="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS577107"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3085868708",
      "coordinates": [
        {
          "allele": "A",
          "end": 219,
          "referenceAllele": "C",
          "start": 218
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010402",
      "geneNCBI_id": 6223,
      "geneSymbol": "RPS19",
      "hgvs": [
        "NM_001022.4:c.184C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001013.1:p.Arg62="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675606",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000598742.6:c.184C>A"
          },
          "RefSeq": {
            "hgvs": "NM_001022.4:c.184C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000470972.1:p.Arg62="
          },
          "RefSeq": {
            "hgvs": "NP_001013.1:p.Arg62="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 275,
          "referenceAllele": "C",
          "start": 274
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010402",
      "geneNCBI_id": 6223,
      "geneSymbol": "RPS19",
      "hgvs": [
        "NM_001321483.2:c.184C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308412.1:p.Arg62="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685350"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 375,
          "referenceAllele": "C",
          "start": 374
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010402",
      "geneNCBI_id": 6223,
      "geneSymbol": "RPS19",
      "hgvs": [
        "NM_001321484.2:c.184C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308413.1:p.Arg62="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685351"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 232,
          "referenceAllele": "C",
          "start": 231
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010402",
      "geneNCBI_id": 6223,
      "geneSymbol": "RPS19",
      "hgvs": [
        "NM_001321485.2:c.197C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308414.1:p.Ala66Glu",
        "hgvsWellDefined": "NP_001308414.1:p.Ala66Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685352"
    }
  ],
  "type": "nucleotide"
}