{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA333080351",
  "communityStandardTitle": [
    "NM_014467.3(SRPX2):c.602C>T (p.Ala201Val)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=792098[alleleid]",
        "alleleId": 792098,
        "preferredName": "NM_014467.3(SRPX2):c.602C>T (p.Ala201Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/804061",
        "RCV": [
          "RCV000990913"
        ],
        "variationId": 804061
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.99920309C>T?assembly=hg19",
        "id": "chrX:g.99920309C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.100665312C>T?assembly=hg38",
        "id": "chrX:g.100665312C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/915881767",
        "rs": 915881767
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 100665312,
          "referenceAllele": "C",
          "start": 100665311
        }
      ],
      "hgvs": [
        "NC_000023.11:g.100665312C>T",
        "CM000685.2:g.100665312C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 99920309,
          "referenceAllele": "C",
          "start": 99920308
        }
      ],
      "hgvs": [
        "NC_000023.10:g.99920309C>T",
        "CM000685.1:g.99920309C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 99806965,
          "referenceAllele": "C",
          "start": 99806964
        }
      ],
      "hgvs": [
        "NC_000023.9:g.99806965C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 26147,
          "referenceAllele": "C",
          "start": 26146
        }
      ],
      "hgvs": [
        "NG_021337.1:g.26147C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003578"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1049,
          "referenceAllele": "C",
          "start": 1048
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030668",
      "geneNCBI_id": 27286,
      "geneSymbol": "SRPX2",
      "hgvs": [
        "ENST00000373004.5:c.602C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362095.3:p.Ala201Val",
        "hgvsWellDefined": "ENSP00000362095.3:p.Ala201Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751132",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000373004.5:c.602C>T"
          },
          "RefSeq": {
            "hgvs": "NM_014467.3:c.602C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000362095.3:p.Ala201Val"
          },
          "RefSeq": {
            "hgvs": "NP_055282.1:p.Ala201Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 626,
          "referenceAllele": "C",
          "start": 625
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030668",
      "geneNCBI_id": 27286,
      "geneSymbol": "SRPX2",
      "hgvs": [
        "ENST00000638458.1:c.626C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492168.1:p.Ala209Val",
        "hgvsWellDefined": "ENSP00000492168.1:p.Ala209Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764539"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 605,
          "referenceAllele": "C",
          "start": 604
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030668",
      "geneNCBI_id": 27286,
      "geneSymbol": "SRPX2",
      "hgvs": [
        "ENST00000638920.1:n.605C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764769"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 924,
          "referenceAllele": "C",
          "start": 923
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030668",
      "geneNCBI_id": 27286,
      "geneSymbol": "SRPX2",
      "hgvs": [
        "ENST00000640889.1:c.602C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492571.1:p.Ala201Val",
        "hgvsWellDefined": "ENSP00000492571.1:p.Ala201Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765717"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 536,
          "referenceAllele": "C",
          "start": 535
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030668",
      "geneNCBI_id": 27286,
      "geneSymbol": "SRPX2",
      "hgvs": [
        "ENST00000677630.1:n.536C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS777288"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 635,
          "referenceAllele": "C",
          "start": 634
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030668",
      "geneNCBI_id": 27286,
      "geneSymbol": "SRPX2",
      "hgvs": [
        "ENST00000679590.1:n.635C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS779218"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1030,
          "referenceAllele": "C",
          "start": 1029
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030668",
      "geneNCBI_id": 27286,
      "geneSymbol": "SRPX2",
      "hgvs": [
        "ENST00000373004.3:c.602C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362095.3:p.Ala201Val",
        "hgvsWellDefined": "ENSP00000362095.3:p.Ala201Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269433"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916015193",
      "coordinates": [
        {
          "allele": "T",
          "end": 1082,
          "referenceAllele": "C",
          "start": 1081
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030668",
      "geneNCBI_id": 27286,
      "geneSymbol": "SRPX2",
      "hgvs": [
        "NM_014467.2:c.602C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_055282.1:p.Ala201Val",
        "hgvsWellDefined": "NP_055282.1:p.Ala201Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033204"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 924,
          "referenceAllele": "C",
          "start": 923
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030668",
      "geneNCBI_id": 27286,
      "geneSymbol": "SRPX2",
      "hgvs": [
        "XM_005262121.2:c.602C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262178.1:p.Ala201Val",
        "hgvsWellDefined": "XP_005262178.1:p.Ala201Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063332"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916015193",
      "coordinates": [
        {
          "allele": "T",
          "end": 1049,
          "referenceAllele": "C",
          "start": 1048
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030668",
      "geneNCBI_id": 27286,
      "geneSymbol": "SRPX2",
      "hgvs": [
        "NM_014467.3:c.602C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_055282.1:p.Ala201Val",
        "hgvsWellDefined": "NP_055282.1:p.Ala201Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668355",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000373004.5:c.602C>T"
          },
          "RefSeq": {
            "hgvs": "NM_014467.3:c.602C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000362095.3:p.Ala201Val"
          },
          "RefSeq": {
            "hgvs": "NP_055282.1:p.Ala201Val"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}