{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA406047260",
  "communityStandardTitle": [
    "NM_001022.4(RPS19):c.162C>G (p.Tyr54Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1834057[alleleid]",
        "alleleId": 1834057,
        "preferredName": "NM_001022.4(RPS19):c.162C>G (p.Tyr54Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1776783",
        "RCV": [
          "RCV002401241"
        ],
        "variationId": 1776783
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.42365271C>G?assembly=hg19",
        "id": "chr19:g.42365271C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.41861202C>G?assembly=hg38",
        "id": "chr19:g.41861202C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2513667411",
        "rs": 2513667411
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "G",
          "end": 41861202,
          "referenceAllele": "C",
          "start": 41861201
        }
      ],
      "hgvs": [
        "NC_000019.10:g.41861202C>G",
        "CM000681.2:g.41861202C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "G",
          "end": 42365271,
          "referenceAllele": "C",
          "start": 42365270
        }
      ],
      "hgvs": [
        "NC_000019.9:g.42365271C>G",
        "CM000681.1:g.42365271C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "G",
          "end": 47057111,
          "referenceAllele": "C",
          "start": 47057110
        }
      ],
      "hgvs": [
        "NC_000019.8:g.47057111C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6284,
          "referenceAllele": "C",
          "start": 6283
        }
      ],
      "hgvs": [
        "NG_007080.2:g.6284C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000460"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6285,
          "referenceAllele": "C",
          "start": 6284
        }
      ],
      "hgvs": [
        "NG_007080.3:g.6285C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616064"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 174,
          "referenceAllele": "C",
          "start": 173
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010402",
      "geneNCBI_id": 6223,
      "geneSymbol": "RPS19",
      "hgvs": [
        "ENST00000598261.2:c.162C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000469798.1:p.Tyr54Ter",
        "hgvsWellDefined": "ENSP00000469798.1:p.Tyr54Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761448"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 197,
          "referenceAllele": "C",
          "start": 196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010402",
      "geneNCBI_id": 6223,
      "geneSymbol": "RPS19",
      "hgvs": [
        "ENST00000598742.6:c.162C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000470972.1:p.Tyr54Ter",
        "hgvsWellDefined": "ENSP00000470972.1:p.Tyr54_His145delinsThrArgAlaAlaSerThrAlaArgHisLeuTyrLeuArgGlyGlyAlaGlyValGlySerMetThrLysIleTyrGlyGlyArgGlnArgAsnGlyValMetProSerHisPheSerArgGlySerLysSerValAlaArgArgValLeuGlnAlaLeuGluGlyLeuLysMetValGluLysAspGlnAspGlyGlyArgLysLeuThrProGlnGlyGlnArgAspLeuAspArgIleAlaGlyGlnValAlaAlaAlaAsnLysLysHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761469",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000598742.6:c.162C>G"
          },
          "RefSeq": {
            "hgvs": "NM_001022.4:c.162C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000470972.1:p.Tyr54Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001013.1:p.Tyr54Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 353,
          "referenceAllele": "C",
          "start": 352
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010402",
      "geneNCBI_id": 6223,
      "geneSymbol": "RPS19",
      "hgvs": [
        "ENST00000600467.6:c.162C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000469228.2:p.Tyr54Ter",
        "hgvsWellDefined": "ENSP00000469228.2:p.Tyr54_His145delinsThrArgAlaAlaSerThrAlaArgHisLeuTyrLeuArgGlyGlyAlaGlyValGlySerMetThrLysIleTyrGlyGlyArgGlnArgAsnGlyValMetProSerHisPheSerArgGlySerLysSerValAlaArgArgValLeuGlnAlaLeuGluGlyLeuLysMetValGluLysAspGlnAspGlyGlyArgLysLeuThrProGlnGlyGlnArgAspLeuAspArgIleAlaGlyGlnValAlaAlaAlaAsnLysLysHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761515"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 185,
          "referenceAllele": "C",
          "start": 184
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010402",
      "geneNCBI_id": 6223,
      "geneSymbol": "RPS19",
      "hgvs": [
        "ENST00000221975.6:c.-61C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000221975.2:n.-61C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248331"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 211,
          "referenceAllele": "C",
          "start": 210
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010402",
      "geneNCBI_id": 6223,
      "geneSymbol": "RPS19",
      "hgvs": [
        "ENST00000593863.5:c.162C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000470004.1:p.Tyr54Ter",
        "hgvsWellDefined": "ENSP00000470004.1:p.Tyr54_His145delinsThrArgAlaAlaSerThrAlaArgHisLeuTyrLeuArgGlyGlyAlaGlyValGlySerMetThrLysIleTyrGlyGlyArgGlnArgAsnGlyValMetProSerHisPheSerArgGlySerLysSerValAlaArgArgValLeuGlnAlaLeuGluGlyLeuLysMetValGluLysAspGlnAspGlyGlyArgLysLeuThrProGlnGlyGlnArgAspLeuAspArgIleAlaGlyGlnValAlaAlaAlaAsnLysLysHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS394385"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 168,
          "referenceAllele": "C",
          "start": 167
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010402",
      "geneNCBI_id": 6223,
      "geneSymbol": "RPS19",
      "hgvs": [
        "ENST00000598261.1:c.162C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000469798.1:p.Tyr54Ter",
        "hgvsWellDefined": "ENSP00000469798.1:p.Tyr54Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS396322"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 159,
          "referenceAllele": "C",
          "start": 158
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010402",
      "geneNCBI_id": 6223,
      "geneSymbol": "RPS19",
      "hgvs": [
        "ENST00000598399.1:c.159C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000472660.1:p.Tyr53Ter",
        "hgvsWellDefined": "ENSP00000472660.1:p.Tyr53_Gly71delinsThrArgAlaGluLeuHisCysHisGlnAlaGlyValHisTrpCysArgLeuGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS396385"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 197,
          "referenceAllele": "C",
          "start": 196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010402",
      "geneNCBI_id": 6223,
      "geneSymbol": "RPS19",
      "hgvs": [
        "ENST00000598466.5:n.197C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS396415"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 534,
          "referenceAllele": "C",
          "start": 533
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010402",
      "geneNCBI_id": 6223,
      "geneSymbol": "RPS19",
      "hgvs": [
        "ENST00000598742.5:c.162C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000470972.1:p.Tyr54Ter",
        "hgvsWellDefined": "ENSP00000470972.1:p.Tyr54_His145delinsThrArgAlaAlaSerThrAlaArgHisLeuTyrLeuArgGlyGlyAlaGlyValGlySerMetThrLysIleTyrGlyGlyArgGlnArgAsnGlyValMetProSerHisPheSerArgGlySerLysSerValAlaArgArgValLeuGlnAlaLeuGluGlyLeuLysMetValGluLysAspGlnAspGlyGlyArgLysLeuThrProGlnGlyGlnArgAspLeuAspArgIleAlaGlyGlnValAlaAlaAlaAsnLysLysHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS396529"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 353,
          "referenceAllele": "C",
          "start": 352
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010402",
      "geneNCBI_id": 6223,
      "geneSymbol": "RPS19",
      "hgvs": [
        "ENST00000600467.5:c.162C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000469228.1:p.Tyr54Ter",
        "hgvsWellDefined": "ENSP00000469228.1:p.Tyr54Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS397302"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 197,
          "referenceAllele": "C",
          "start": 196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010402",
      "geneNCBI_id": 6223,
      "geneSymbol": "RPS19",
      "hgvs": [
        "ENST00000601492.5:c.162C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000471621.1:p.Tyr54Ter",
        "hgvsWellDefined": "ENSP00000471621.1:p.Tyr54Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS397756"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825299253",
      "coordinates": [
        {
          "allele": "G",
          "end": 534,
          "referenceAllele": "C",
          "start": 533
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010402",
      "geneNCBI_id": 6223,
      "geneSymbol": "RPS19",
      "hgvs": [
        "NM_001022.3:c.162C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001013.1:p.Tyr54Ter",
        "hgvsWellDefined": "NP_001013.1:p.Tyr54_His145delinsThrArgAlaAlaSerThrAlaArgHisLeuTyrLeuArgGlyGlyAlaGlyValGlySerMetThrLysIleTyrGlyGlyArgGlnArgAsnGlyValMetProSerHisPheSerArgGlySerLysSerValAlaArgArgValLeuGlnAlaLeuGluGlyLeuLysMetValGluLysAspGlnAspGlyGlyArgLysLeuThrProGlnGlyGlnArgAspLeuAspArgIleAlaGlyGlnValAlaAlaAlaAsnLysLysHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008724"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827111063",
      "coordinates": [
        {
          "allele": "G",
          "end": 211,
          "referenceAllele": "C",
          "start": 210
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010402",
      "geneNCBI_id": 6223,
      "geneSymbol": "RPS19",
      "hgvs": [
        "NM_001321483.1:c.162C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308412.1:p.Tyr54Ter",
        "hgvsWellDefined": "NP_001308412.1:p.Tyr54_His145delinsThrArgAlaAlaSerThrAlaArgHisLeuTyrLeuArgGlyGlyAlaGlyValGlySerMetThrLysIleTyrGlyGlyArgGlnArgAsnGlyValMetProSerHisPheSerArgGlySerLysSerValAlaArgArgValLeuGlnAlaLeuGluGlyLeuLysMetValGluLysAspGlnAspGlyGlyArgLysLeuThrProGlnGlyGlnArgAspLeuAspArgIleAlaGlyGlnValAlaAlaAlaAsnLysLysHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514307"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827111256",
      "coordinates": [
        {
          "allele": "G",
          "end": 341,
          "referenceAllele": "C",
          "start": 340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010402",
      "geneNCBI_id": 6223,
      "geneSymbol": "RPS19",
      "hgvs": [
        "NM_001321484.1:c.162C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308413.1:p.Tyr54Ter",
        "hgvsWellDefined": "NP_001308413.1:p.Tyr54_His145delinsThrArgAlaAlaSerThrAlaArgHisLeuTyrLeuArgGlyGlyAlaGlyValGlySerMetThrLysIleTyrGlyGlyArgGlnArgAsnGlyValMetProSerHisPheSerArgGlySerLysSerValAlaArgArgValLeuGlnAlaLeuGluGlyLeuLysMetValGluLysAspGlnAspGlyGlyArgLysLeuThrProGlnGlyGlnArgAspLeuAspArgIleAlaGlyGlnValAlaAlaAlaAsnLysLysHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514308"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580210361",
      "coordinates": [
        {
          "allele": "G",
          "end": 534,
          "referenceAllele": "C",
          "start": 533
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010402",
      "geneNCBI_id": 6223,
      "geneSymbol": "RPS19",
      "hgvs": [
        "NM_001321485.1:c.162C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308414.1:p.Tyr54Ter",
        "hgvsWellDefined": "NP_001308414.1:p.Tyr54_Gly156delinsThrArgAlaGlyGluGluLeuSerPheHisSerAlaAlaProValProProGlyTrpArgTrpGlyTrpLeuHisAspGlnAspLeuTrpGlyThrSerGluLysArgArgHisAlaGlnProLeuGlnProArgLeuGlnGluCysGlyProProGlyProProSerProGlyGlyAlaGluAsnGlyGlyLysGlyProArgTrpArgProGlnThrAspThrSerGlyThrLysArgSerGlyGlnAsnArgArgThrGlyGlySerCysGlnGlnGluAlaLeuGluGlnThrMetLeuGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514309"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 195,
          "referenceAllele": "C",
          "start": 194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010402",
      "geneNCBI_id": 6223,
      "geneSymbol": "RPS19",
      "hgvs": [
        "XM_017027113.2:c.162C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016882602.1:p.Tyr54Ter",
        "hgvsWellDefined": "XP_016882602.1:p.Tyr54_Val193delinsThrArgAlaAlaSerThrAlaArgHisLeuTyrLeuArgGlyGlyAlaGlyValGlySerMetThrLysIleTyrGlyGlyArgGlnArgAsnGlyValMetProSerHisPheSerArgGlySerLysSerValAlaArgArgValLeuGlnAlaLeuGluGlyLeuLysMetValGluLysAspGlnAspGlyGlyArgLysLeuThrProGlnGlyGlnArgAspLeuAspArgIleAlaGlyGlnValArgProAlaPheGlyValGlyLeuGlyProLeuValAlaAlaGlnAlaPheProLysProIleLeuCysGlnValAspLeuPheProSerLeuGluGlyThrAlaGlnGlyAlaGlyGlyValArgGlyGlyLeuProArgAspArgArgLysAspSerProValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS577107"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825299253",
      "coordinates": [
        {
          "allele": "G",
          "end": 197,
          "referenceAllele": "C",
          "start": 196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010402",
      "geneNCBI_id": 6223,
      "geneSymbol": "RPS19",
      "hgvs": [
        "NM_001022.4:c.162C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001013.1:p.Tyr54Ter",
        "hgvsWellDefined": "NP_001013.1:p.Tyr54_His145delinsThrArgAlaAlaSerThrAlaArgHisLeuTyrLeuArgGlyGlyAlaGlyValGlySerMetThrLysIleTyrGlyGlyArgGlnArgAsnGlyValMetProSerHisPheSerArgGlySerLysSerValAlaArgArgValLeuGlnAlaLeuGluGlyLeuLysMetValGluLysAspGlnAspGlyGlyArgLysLeuThrProGlnGlyGlnArgAspLeuAspArgIleAlaGlyGlnValAlaAlaAlaAsnLysLysHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675606",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000598742.6:c.162C>G"
          },
          "RefSeq": {
            "hgvs": "NM_001022.4:c.162C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000470972.1:p.Tyr54Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001013.1:p.Tyr54Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827111063",
      "coordinates": [
        {
          "allele": "G",
          "end": 253,
          "referenceAllele": "C",
          "start": 252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010402",
      "geneNCBI_id": 6223,
      "geneSymbol": "RPS19",
      "hgvs": [
        "NM_001321483.2:c.162C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308412.1:p.Tyr54Ter",
        "hgvsWellDefined": "NP_001308412.1:p.Tyr54_His145delinsThrArgAlaAlaSerThrAlaArgHisLeuTyrLeuArgGlyGlyAlaGlyValGlySerMetThrLysIleTyrGlyGlyArgGlnArgAsnGlyValMetProSerHisPheSerArgGlySerLysSerValAlaArgArgValLeuGlnAlaLeuGluGlyLeuLysMetValGluLysAspGlnAspGlyGlyArgLysLeuThrProGlnGlyGlnArgAspLeuAspArgIleAlaGlyGlnValAlaAlaAlaAsnLysLysHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685350"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827111256",
      "coordinates": [
        {
          "allele": "G",
          "end": 353,
          "referenceAllele": "C",
          "start": 352
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010402",
      "geneNCBI_id": 6223,
      "geneSymbol": "RPS19",
      "hgvs": [
        "NM_001321484.2:c.162C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308413.1:p.Tyr54Ter",
        "hgvsWellDefined": "NP_001308413.1:p.Tyr54_His145delinsThrArgAlaAlaSerThrAlaArgHisLeuTyrLeuArgGlyGlyAlaGlyValGlySerMetThrLysIleTyrGlyGlyArgGlnArgAsnGlyValMetProSerHisPheSerArgGlySerLysSerValAlaArgArgValLeuGlnAlaLeuGluGlyLeuLysMetValGluLysAspGlnAspGlyGlyArgLysLeuThrProGlnGlyGlnArgAspLeuAspArgIleAlaGlyGlnValAlaAlaAlaAsnLysLysHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685351"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580210361",
      "coordinates": [
        {
          "allele": "G",
          "end": 197,
          "referenceAllele": "C",
          "start": 196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010402",
      "geneNCBI_id": 6223,
      "geneSymbol": "RPS19",
      "hgvs": [
        "NM_001321485.2:c.162C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308414.1:p.Tyr54Ter",
        "hgvsWellDefined": "NP_001308414.1:p.Tyr54_Gly156delinsThrArgAlaGlyGluGluLeuSerPheHisSerAlaAlaProValProProGlyTrpArgTrpGlyTrpLeuHisAspGlnAspLeuTrpGlyThrSerGluLysArgArgHisAlaGlnProLeuGlnProArgLeuGlnGluCysGlyProProGlyProProSerProGlyGlyAlaGluAsnGlyGlyLysGlyProArgTrpArgProGlnThrAspThrSerGlyThrLysArgSerGlyGlnAsnArgArgThrGlyGlySerCysGlnGlnGluAlaLeuGluGlnThrMetLeuGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685352"
    }
  ],
  "type": "nucleotide"
}