{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA672546",
  "communityStandardTitle": [
    "NM_005529.7(HSPG2):c.3707C>A (p.Ala1236Glu)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=440475[alleleid]",
        "alleleId": 440475,
        "preferredName": "NM_005529.7(HSPG2):c.3707C>A (p.Ala1236Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/447549",
        "RCV": [
          "RCV000710146",
          "RCV001096080",
          "RCV002279305",
          "RCV004537844",
          "RCV001096081"
        ],
        "variationId": 447549
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-22200454-G-T",
        "id": "1-22200454-G-T",
        "variant": "1:22200454 G / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.22200454G>T?assembly=hg19",
        "id": "chr1:g.22200454G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.21873961G>T?assembly=hg38",
        "id": "chr1:g.21873961G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/113652076",
        "rs": 113652076
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-22200454-G-T?dataset=gnomad_r2_1",
        "id": "1-22200454-G-T",
        "variant": "1:22200454 G / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-21873961-G-T?dataset=gnomad_r3",
        "id": "1-21873961-G-T",
        "variant": "1:21873961 G / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-21873961-G-T?dataset=gnomad_r4",
        "id": "1-21873961-G-T",
        "variant": "1:21873961 G / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 21873961,
          "referenceAllele": "G",
          "start": 21873960
        }
      ],
      "hgvs": [
        "NC_000001.11:g.21873961G>T",
        "CM000663.2:g.21873961G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 22200454,
          "referenceAllele": "G",
          "start": 22200453
        }
      ],
      "hgvs": [
        "NC_000001.10:g.22200454G>T",
        "CM000663.1:g.22200454G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 22073041,
          "referenceAllele": "G",
          "start": 22073040
        }
      ],
      "hgvs": [
        "NC_000001.9:g.22073041G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 68297,
          "referenceAllele": "C",
          "start": 68296
        }
      ],
      "hgvs": [
        "NG_016740.1:g.68297C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003265"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3800,
          "referenceAllele": "C",
          "start": 3799
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "ENST00000374695.8:c.3707C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363827.3:p.Ala1236Glu",
        "hgvsWellDefined": "ENSP00000363827.3:p.Ala1236Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751480",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374695.8:c.3707C>A"
          },
          "RefSeq": {
            "hgvs": "NM_005529.7:c.3707C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363827.3:p.Ala1236Glu"
          },
          "RefSeq": {
            "hgvs": "NP_005520.4:p.Ala1236Glu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3787,
          "referenceAllele": "C",
          "start": 3786
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "ENST00000374695.7:c.3707C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363827.3:p.Ala1236Glu",
        "hgvsWellDefined": "ENSP00000363827.3:p.Ala1236Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270365"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 270,
          "referenceAllele": "C",
          "start": 269
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "ENST00000427897.1:c.270C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS289929"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916017948",
      "coordinates": [
        {
          "allele": "A",
          "end": 3790,
          "referenceAllele": "C",
          "start": 3789
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "NM_001291860.1:c.3710C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278789.1:p.Ala1237Glu",
        "hgvsWellDefined": "NP_001278789.1:p.Ala1237Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024346"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658675411",
      "coordinates": [
        {
          "allele": "A",
          "end": 3787,
          "referenceAllele": "C",
          "start": 3786
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "NM_005529.6:c.3707C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_005520.4:p.Ala1236Glu",
        "hgvsWellDefined": "NP_005520.4:p.Ala1236Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030620"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3773,
          "referenceAllele": "C",
          "start": 3772
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_006710594.2:c.3758C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710657.1:p.Ala1253Glu",
        "hgvsWellDefined": "XP_006710657.1:p.Ala1253Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068699"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3725,
          "referenceAllele": "C",
          "start": 3724
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_006710595.2:c.3710C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710658.1:p.Ala1237Glu",
        "hgvsWellDefined": "XP_006710658.1:p.Ala1237Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068700"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3776,
          "referenceAllele": "C",
          "start": 3775
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_006710596.2:c.3761C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710659.1:p.Ala1254Glu",
        "hgvsWellDefined": "XP_006710659.1:p.Ala1254Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068701"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3722,
          "referenceAllele": "C",
          "start": 3721
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_006710597.2:c.3707C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710660.1:p.Ala1236Glu",
        "hgvsWellDefined": "XP_006710660.1:p.Ala1236Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068702"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3776,
          "referenceAllele": "C",
          "start": 3775
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_011541317.1:c.3761C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539619.1:p.Ala1254Glu",
        "hgvsWellDefined": "XP_011539619.1:p.Ala1254Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108259"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3776,
          "referenceAllele": "C",
          "start": 3775
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_011541318.1:c.3761C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539620.1:p.Ala1254Glu",
        "hgvsWellDefined": "XP_011539620.1:p.Ala1254Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108260"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3776,
          "referenceAllele": "C",
          "start": 3775
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_011541319.1:c.3761C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539621.1:p.Ala1254Glu",
        "hgvsWellDefined": "XP_011539621.1:p.Ala1254Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108261"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3776,
          "referenceAllele": "C",
          "start": 3775
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_011541320.1:c.3761C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539622.1:p.Ala1254Glu",
        "hgvsWellDefined": "XP_011539622.1:p.Ala1254Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108262"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3776,
          "referenceAllele": "C",
          "start": 3775
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_011541321.1:c.3761C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539623.1:p.Ala1254Glu",
        "hgvsWellDefined": "XP_011539623.1:p.Ala1254Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108263"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3784,
          "referenceAllele": "C",
          "start": 3783
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_011541322.1:c.3761C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539624.1:p.Ala1254Glu",
        "hgvsWellDefined": "XP_011539624.1:p.Ala1254Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108264"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3776,
          "referenceAllele": "C",
          "start": 3775
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_011541318.2:c.3761C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539620.1:p.Ala1254Glu",
        "hgvsWellDefined": "XP_011539620.1:p.Ala1254Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554390"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3917,
          "referenceAllele": "C",
          "start": 3916
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_017001120.1:c.3902C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856609.1:p.Ala1301Glu",
        "hgvsWellDefined": "XP_016856609.1:p.Ala1301Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557347"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3866,
          "referenceAllele": "C",
          "start": 3865
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_017001121.1:c.3851C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856610.1:p.Ala1284Glu",
        "hgvsWellDefined": "XP_016856610.1:p.Ala1284Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557348"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3863,
          "referenceAllele": "C",
          "start": 3862
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_017001122.1:c.3848C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856611.1:p.Ala1283Glu",
        "hgvsWellDefined": "XP_016856611.1:p.Ala1283Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557349"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658675411",
      "coordinates": [
        {
          "allele": "A",
          "end": 3800,
          "referenceAllele": "C",
          "start": 3799
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "NM_005529.7:c.3707C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_005520.4:p.Ala1236Glu",
        "hgvsWellDefined": "NP_005520.4:p.Ala1236Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667014",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374695.8:c.3707C>A"
          },
          "RefSeq": {
            "hgvs": "NM_005529.7:c.3707C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363827.3:p.Ala1236Glu"
          },
          "RefSeq": {
            "hgvs": "NP_005520.4:p.Ala1236Glu"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA916017948",
      "coordinates": [
        {
          "allele": "A",
          "end": 3803,
          "referenceAllele": "C",
          "start": 3802
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "NM_001291860.2:c.3710C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278789.1:p.Ala1237Glu",
        "hgvsWellDefined": "NP_001278789.1:p.Ala1237Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682883"
    }
  ],
  "type": "nucleotide"
}