{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA474217959",
  "communityStandardTitle": [
    "NM_005055.5(RAPSN):c.957G>A (p.Val319=)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.47462719C>T?assembly=hg19",
        "id": "chr11:g.47462719C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/794727796",
        "rs": 794727796
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-47441168-C-T?dataset=gnomad_r4",
        "id": "11-47441168-C-T",
        "variant": "11:47441168 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 47441168,
          "referenceAllele": "C",
          "start": 47441167
        }
      ],
      "hgvs": [
        "NC_000011.10:g.47441168C>T",
        "CM000673.2:g.47441168C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 47462719,
          "referenceAllele": "C",
          "start": 47462718
        }
      ],
      "hgvs": [
        "NC_000011.9:g.47462719C>T",
        "CM000673.1:g.47462719C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 47419295,
          "referenceAllele": "C",
          "start": 47419294
        }
      ],
      "hgvs": [
        "NC_000011.8:g.47419295C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 13012,
          "referenceAllele": "G",
          "start": 13011
        }
      ],
      "hgvs": [
        "NG_008312.1:g.13012G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001021"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1129,
          "referenceAllele": "G",
          "start": 1128
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009863",
      "geneNCBI_id": 5913,
      "geneSymbol": "RAPSN",
      "hgvs": [
        "ENST00000298854.7:c.957G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000298854.2:p.Val319="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744628",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000298854.7:c.957G>A"
          },
          "RefSeq": {
            "hgvs": "NM_005055.5:c.957G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000298854.2:p.Val319="
          },
          "RefSeq": {
            "hgvs": "NP_005046.2:p.Val319="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1171,
          "referenceAllele": "G",
          "start": 1170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009863",
      "geneNCBI_id": 5913,
      "geneSymbol": "RAPSN",
      "hgvs": [
        "ENST00000298854.6:c.957G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000298854.2:p.Val319="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254641"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 968,
          "endIntronDirection": "+",
          "endIntronOffset": 655,
          "referenceAllele": "G",
          "start": 968,
          "startIntronDirection": "+",
          "startIntronOffset": 654
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009863",
      "geneNCBI_id": 5913,
      "geneSymbol": "RAPSN",
      "hgvs": [
        "ENST00000352508.7:c.789+655G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000298853.3:n.789+655G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262876"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 970,
          "referenceAllele": "G",
          "start": 969
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009863",
      "geneNCBI_id": 5913,
      "geneSymbol": "RAPSN",
      "hgvs": [
        "ENST00000524487.5:c.798G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435551.2:p.Val266="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS350638"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 121,
          "endIntronDirection": "+",
          "endIntronOffset": 443,
          "referenceAllele": "G",
          "start": 121,
          "startIntronDirection": "+",
          "startIntronOffset": 442
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009863",
      "geneNCBI_id": 5913,
      "geneSymbol": "RAPSN",
      "hgvs": [
        "ENST00000528356.1:n.121+443G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS353907"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 961,
          "endIntronDirection": "+",
          "endIntronOffset": 655,
          "referenceAllele": "G",
          "start": 961,
          "startIntronDirection": "+",
          "startIntronOffset": 654
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009863",
      "geneNCBI_id": 5913,
      "geneSymbol": "RAPSN",
      "hgvs": [
        "ENST00000529341.1:c.789+655G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000431732.1:n.789+655G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS354737"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829576444",
      "coordinates": [
        {
          "allele": "A",
          "end": 1171,
          "referenceAllele": "G",
          "start": 1170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009863",
      "geneNCBI_id": 5913,
      "geneSymbol": "RAPSN",
      "hgvs": [
        "NM_005055.4:c.957G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_005046.2:p.Val319="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030184"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1003,
          "endIntronDirection": "+",
          "endIntronOffset": 655,
          "referenceAllele": "G",
          "start": 1003,
          "startIntronDirection": "+",
          "startIntronOffset": 654
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009863",
      "geneNCBI_id": 5913,
      "geneSymbol": "RAPSN",
      "hgvs": [
        "NM_032645.4:c.789+655G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_116034.2:n.789+655G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039240"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1084,
          "endIntronDirection": "+",
          "endIntronOffset": 443,
          "referenceAllele": "G",
          "start": 1084,
          "startIntronDirection": "+",
          "startIntronOffset": 442
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009863",
      "geneNCBI_id": 5913,
      "geneSymbol": "RAPSN",
      "hgvs": [
        "XM_005253042.2:c.912+443G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005253099.1:n.912+443G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060134"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1006,
          "referenceAllele": "G",
          "start": 1005
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009863",
      "geneNCBI_id": 5913,
      "geneSymbol": "RAPSN",
      "hgvs": [
        "XM_005253043.2:c.834G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005253100.1:p.Val278="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060135"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1214,
          "referenceAllele": "G",
          "start": 1213
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009863",
      "geneNCBI_id": 5913,
      "geneSymbol": "RAPSN",
      "hgvs": [
        "XM_011520252.1:c.1042G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518554.1:p.Gly348Arg",
        "hgvsWellDefined": "XP_011518554.1:p.Gly348Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087421"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1153,
          "referenceAllele": "G",
          "start": 1152
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009863",
      "geneNCBI_id": 5913,
      "geneSymbol": "RAPSN",
      "hgvs": [
        "XM_011520253.1:c.981G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518555.1:p.Val327="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087422"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1084,
          "endIntronDirection": "+",
          "endIntronOffset": 443,
          "referenceAllele": "G",
          "start": 1084,
          "startIntronDirection": "+",
          "startIntronOffset": 442
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009863",
      "geneNCBI_id": 5913,
      "geneSymbol": "RAPSN",
      "hgvs": [
        "XM_005253042.3:c.912+443G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005253099.1:n.912+443G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533890"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1006,
          "referenceAllele": "G",
          "start": 1005
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009863",
      "geneNCBI_id": 5913,
      "geneSymbol": "RAPSN",
      "hgvs": [
        "XM_005253043.3:c.834G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005253100.1:p.Val278="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533891"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829576444",
      "coordinates": [
        {
          "allele": "A",
          "end": 1129,
          "referenceAllele": "G",
          "start": 1128
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009863",
      "geneNCBI_id": 5913,
      "geneSymbol": "RAPSN",
      "hgvs": [
        "NM_005055.5:c.957G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_005046.2:p.Val319="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666793",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000298854.7:c.957G>A"
          },
          "RefSeq": {
            "hgvs": "NM_005055.5:c.957G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000298854.2:p.Val319="
          },
          "RefSeq": {
            "hgvs": "NP_005046.2:p.Val319="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 961,
          "endIntronDirection": "+",
          "endIntronOffset": 655,
          "referenceAllele": "G",
          "start": 961,
          "startIntronDirection": "+",
          "startIntronOffset": 654
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009863",
      "geneNCBI_id": 5913,
      "geneSymbol": "RAPSN",
      "hgvs": [
        "NM_032645.5:c.789+655G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_116034.2:n.789+655G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699166"
    }
  ],
  "type": "nucleotide"
}