{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA673395",
  "communityStandardTitle": [
    "NM_005529.7(HSPG2):c.1525C>T (p.His509Tyr)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=280796[alleleid]",
        "alleleId": 280796,
        "preferredName": "NM_005529.7(HSPG2):c.1525C>T (p.His509Tyr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/295892",
        "RCV": [
          "RCV000347946",
          "RCV000383784",
          "RCV000887329",
          "RCV000591375"
        ],
        "variationId": 295892
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-22211150-G-A",
        "id": "1-22211150-G-A",
        "variant": "1:22211150 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.22211150G>A?assembly=hg19",
        "id": "chr1:g.22211150G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.21884657G>A?assembly=hg38",
        "id": "chr1:g.21884657G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/142071466",
        "rs": 142071466
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-22211150-G-A?dataset=gnomad_r2_1",
        "id": "1-22211150-G-A",
        "variant": "1:22211150 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-21884657-G-A?dataset=gnomad_r3",
        "id": "1-21884657-G-A",
        "variant": "1:21884657 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-21884657-G-A?dataset=gnomad_r4",
        "id": "1-21884657-G-A",
        "variant": "1:21884657 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 21884657,
          "referenceAllele": "G",
          "start": 21884656
        }
      ],
      "hgvs": [
        "NC_000001.11:g.21884657G>A",
        "CM000663.2:g.21884657G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 22211150,
          "referenceAllele": "G",
          "start": 22211149
        }
      ],
      "hgvs": [
        "NC_000001.10:g.22211150G>A",
        "CM000663.1:g.22211150G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 22083737,
          "referenceAllele": "G",
          "start": 22083736
        }
      ],
      "hgvs": [
        "NC_000001.9:g.22083737G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 57601,
          "referenceAllele": "C",
          "start": 57600
        }
      ],
      "hgvs": [
        "NG_016740.1:g.57601C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003265"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1618,
          "referenceAllele": "C",
          "start": 1617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "ENST00000374695.8:c.1525C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363827.3:p.His509Tyr",
        "hgvsWellDefined": "ENSP00000363827.3:p.His509Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751480",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374695.8:c.1525C>T"
          },
          "RefSeq": {
            "hgvs": "NM_005529.7:c.1525C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363827.3:p.His509Tyr"
          },
          "RefSeq": {
            "hgvs": "NP_005520.4:p.His509Tyr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1605,
          "referenceAllele": "C",
          "start": 1604
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "ENST00000374695.7:c.1525C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363827.3:p.His509Tyr",
        "hgvsWellDefined": "ENSP00000363827.3:p.His509Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270365"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916017890",
      "coordinates": [
        {
          "allele": "T",
          "end": 1608,
          "referenceAllele": "C",
          "start": 1607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "NM_001291860.1:c.1528C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278789.1:p.His510Tyr",
        "hgvsWellDefined": "NP_001278789.1:p.His510Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024346"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645396108",
      "coordinates": [
        {
          "allele": "T",
          "end": 1605,
          "referenceAllele": "C",
          "start": 1604
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "NM_005529.6:c.1525C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005520.4:p.His509Tyr",
        "hgvsWellDefined": "NP_005520.4:p.His509Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030620"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1591,
          "referenceAllele": "C",
          "start": 1590
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_006710594.2:c.1576C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710657.1:p.His526Tyr",
        "hgvsWellDefined": "XP_006710657.1:p.His526Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068699"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1543,
          "referenceAllele": "C",
          "start": 1542
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_006710595.2:c.1528C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710658.1:p.His510Tyr",
        "hgvsWellDefined": "XP_006710658.1:p.His510Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068700"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1594,
          "referenceAllele": "C",
          "start": 1593
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_006710596.2:c.1579C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710659.1:p.His527Tyr",
        "hgvsWellDefined": "XP_006710659.1:p.His527Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068701"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1540,
          "referenceAllele": "C",
          "start": 1539
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_006710597.2:c.1525C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710660.1:p.His509Tyr",
        "hgvsWellDefined": "XP_006710660.1:p.His509Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068702"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1594,
          "referenceAllele": "C",
          "start": 1593
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_011541317.1:c.1579C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539619.1:p.His527Tyr",
        "hgvsWellDefined": "XP_011539619.1:p.His527Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108259"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1594,
          "referenceAllele": "C",
          "start": 1593
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_011541318.1:c.1579C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539620.1:p.His527Tyr",
        "hgvsWellDefined": "XP_011539620.1:p.His527Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108260"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1594,
          "referenceAllele": "C",
          "start": 1593
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_011541319.1:c.1579C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539621.1:p.His527Tyr",
        "hgvsWellDefined": "XP_011539621.1:p.His527Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108261"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1594,
          "referenceAllele": "C",
          "start": 1593
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_011541320.1:c.1579C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539622.1:p.His527Tyr",
        "hgvsWellDefined": "XP_011539622.1:p.His527Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108262"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1594,
          "referenceAllele": "C",
          "start": 1593
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_011541321.1:c.1579C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539623.1:p.His527Tyr",
        "hgvsWellDefined": "XP_011539623.1:p.His527Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108263"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1602,
          "referenceAllele": "C",
          "start": 1601
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_011541322.1:c.1579C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539624.1:p.His527Tyr",
        "hgvsWellDefined": "XP_011539624.1:p.His527Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108264"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1594,
          "referenceAllele": "C",
          "start": 1593
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_011541318.2:c.1579C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539620.1:p.His527Tyr",
        "hgvsWellDefined": "XP_011539620.1:p.His527Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554390"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1735,
          "referenceAllele": "C",
          "start": 1734
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_017001120.1:c.1720C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856609.1:p.His574Tyr",
        "hgvsWellDefined": "XP_016856609.1:p.His574Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557347"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1684,
          "referenceAllele": "C",
          "start": 1683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_017001121.1:c.1669C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856610.1:p.His557Tyr",
        "hgvsWellDefined": "XP_016856610.1:p.His557Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557348"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1681,
          "referenceAllele": "C",
          "start": 1680
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_017001122.1:c.1666C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856611.1:p.His556Tyr",
        "hgvsWellDefined": "XP_016856611.1:p.His556Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557349"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645396108",
      "coordinates": [
        {
          "allele": "T",
          "end": 1618,
          "referenceAllele": "C",
          "start": 1617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "NM_005529.7:c.1525C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005520.4:p.His509Tyr",
        "hgvsWellDefined": "NP_005520.4:p.His509Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667014",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374695.8:c.1525C>T"
          },
          "RefSeq": {
            "hgvs": "NM_005529.7:c.1525C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363827.3:p.His509Tyr"
          },
          "RefSeq": {
            "hgvs": "NP_005520.4:p.His509Tyr"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA916017890",
      "coordinates": [
        {
          "allele": "T",
          "end": 1621,
          "referenceAllele": "C",
          "start": 1620
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "NM_001291860.2:c.1528C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278789.1:p.His510Tyr",
        "hgvsWellDefined": "NP_001278789.1:p.His510Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682883"
    }
  ],
  "type": "nucleotide"
}