{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA670199",
  "communityStandardTitle": [
    "NM_005529.7(HSPG2):c.10187C>T (p.Ala3396Val)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=273645[alleleid]",
        "alleleId": 273645,
        "preferredName": "NM_005529.7(HSPG2):c.10187C>T (p.Ala3396Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/289408",
        "RCV": [
          "RCV000369617",
          "RCV000726320",
          "RCV001096488",
          "RCV001096489",
          "RCV002522005"
        ],
        "variationId": 289408
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-22163463-G-A",
        "id": "1-22163463-G-A",
        "variant": "1:22163463 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.22163463G>A?assembly=hg19",
        "id": "chr1:g.22163463G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.21836970G>A?assembly=hg38",
        "id": "chr1:g.21836970G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/200225298",
        "rs": 200225298
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-22163463-G-A?dataset=gnomad_r2_1",
        "id": "1-22163463-G-A",
        "variant": "1:22163463 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-21836970-G-A?dataset=gnomad_r3",
        "id": "1-21836970-G-A",
        "variant": "1:21836970 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-21836970-G-A?dataset=gnomad_r4",
        "id": "1-21836970-G-A",
        "variant": "1:21836970 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 21836970,
          "referenceAllele": "G",
          "start": 21836969
        }
      ],
      "hgvs": [
        "NC_000001.11:g.21836970G>A",
        "CM000663.2:g.21836970G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 22163463,
          "referenceAllele": "G",
          "start": 22163462
        }
      ],
      "hgvs": [
        "NC_000001.10:g.22163463G>A",
        "CM000663.1:g.22163463G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 22036050,
          "referenceAllele": "G",
          "start": 22036049
        }
      ],
      "hgvs": [
        "NC_000001.9:g.22036050G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 105288,
          "referenceAllele": "C",
          "start": 105287
        }
      ],
      "hgvs": [
        "NG_016740.1:g.105288C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003265"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10280,
          "referenceAllele": "C",
          "start": 10279
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "ENST00000374695.8:c.10187C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363827.3:p.Ala3396Val",
        "hgvsWellDefined": "ENSP00000363827.3:p.Ala3396Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751480",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374695.8:c.10187C>T"
          },
          "RefSeq": {
            "hgvs": "NM_005529.7:c.10187C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363827.3:p.Ala3396Val"
          },
          "RefSeq": {
            "hgvs": "NP_005520.4:p.Ala3396Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 182,
          "endIntronDirection": "-",
          "endIntronOffset": 1332,
          "referenceAllele": "C",
          "start": 182,
          "startIntronDirection": "-",
          "startIntronOffset": 1333
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "ENST00000374676.4:c.183-1333C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS270356"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10267,
          "referenceAllele": "C",
          "start": 10266
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "ENST00000374695.7:c.10187C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363827.3:p.Ala3396Val",
        "hgvsWellDefined": "ENSP00000363827.3:p.Ala3396Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270365"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916018105",
      "coordinates": [
        {
          "allele": "T",
          "end": 10270,
          "referenceAllele": "C",
          "start": 10269
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "NM_001291860.1:c.10190C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278789.1:p.Ala3397Val",
        "hgvsWellDefined": "NP_001278789.1:p.Ala3397Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024346"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645396321",
      "coordinates": [
        {
          "allele": "T",
          "end": 10267,
          "referenceAllele": "C",
          "start": 10266
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "NM_005529.6:c.10187C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005520.4:p.Ala3396Val",
        "hgvsWellDefined": "NP_005520.4:p.Ala3396Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030620"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10748,
          "referenceAllele": "C",
          "start": 10747
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_006710594.2:c.10733C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710657.1:p.Ala3578Val",
        "hgvsWellDefined": "XP_006710657.1:p.Ala3578Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068699"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10700,
          "referenceAllele": "C",
          "start": 10699
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_006710595.2:c.10685C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710658.1:p.Ala3562Val",
        "hgvsWellDefined": "XP_006710658.1:p.Ala3562Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068700"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10679,
          "referenceAllele": "C",
          "start": 10678
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_006710596.2:c.10664C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710659.1:p.Ala3555Val",
        "hgvsWellDefined": "XP_006710659.1:p.Ala3555Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068701"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10202,
          "referenceAllele": "C",
          "start": 10201
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_006710597.2:c.10187C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710660.1:p.Ala3396Val",
        "hgvsWellDefined": "XP_006710660.1:p.Ala3396Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068702"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10751,
          "referenceAllele": "C",
          "start": 10750
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_011541317.1:c.10736C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539619.1:p.Ala3579Val",
        "hgvsWellDefined": "XP_011539619.1:p.Ala3579Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108259"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10751,
          "referenceAllele": "C",
          "start": 10750
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_011541318.1:c.10736C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539620.1:p.Ala3579Val",
        "hgvsWellDefined": "XP_011539620.1:p.Ala3579Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108260"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10751,
          "referenceAllele": "C",
          "start": 10750
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_011541319.1:c.10736C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539621.1:p.Ala3579Val",
        "hgvsWellDefined": "XP_011539621.1:p.Ala3579Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108261"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10472,
          "referenceAllele": "C",
          "start": 10471
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_011541320.1:c.10457C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539622.1:p.Ala3486Val",
        "hgvsWellDefined": "XP_011539622.1:p.Ala3486Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108262"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10256,
          "referenceAllele": "C",
          "start": 10255
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_011541321.1:c.10241C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539623.1:p.Ala3414Val",
        "hgvsWellDefined": "XP_011539623.1:p.Ala3414Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108263"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10751,
          "referenceAllele": "C",
          "start": 10750
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_011541318.2:c.10736C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539620.1:p.Ala3579Val",
        "hgvsWellDefined": "XP_011539620.1:p.Ala3579Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554390"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10397,
          "referenceAllele": "C",
          "start": 10396
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_017001120.1:c.10382C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856609.1:p.Ala3461Val",
        "hgvsWellDefined": "XP_016856609.1:p.Ala3461Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557347"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10346,
          "referenceAllele": "C",
          "start": 10345
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_017001121.1:c.10331C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856610.1:p.Ala3444Val",
        "hgvsWellDefined": "XP_016856610.1:p.Ala3444Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557348"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10343,
          "referenceAllele": "C",
          "start": 10342
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_017001122.1:c.10328C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856611.1:p.Ala3443Val",
        "hgvsWellDefined": "XP_016856611.1:p.Ala3443Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557349"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645396321",
      "coordinates": [
        {
          "allele": "T",
          "end": 10280,
          "referenceAllele": "C",
          "start": 10279
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "NM_005529.7:c.10187C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005520.4:p.Ala3396Val",
        "hgvsWellDefined": "NP_005520.4:p.Ala3396Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667014",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374695.8:c.10187C>T"
          },
          "RefSeq": {
            "hgvs": "NM_005529.7:c.10187C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363827.3:p.Ala3396Val"
          },
          "RefSeq": {
            "hgvs": "NP_005520.4:p.Ala3396Val"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA916018105",
      "coordinates": [
        {
          "allele": "T",
          "end": 10283,
          "referenceAllele": "C",
          "start": 10282
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "NM_001291860.2:c.10190C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278789.1:p.Ala3397Val",
        "hgvsWellDefined": "NP_001278789.1:p.Ala3397Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682883"
    }
  ],
  "type": "nucleotide"
}