{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA5016220",
  "communityStandardTitle": [
    "NM_000459.5(TEK):c.1346A>G (p.Asn449Ser)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=723540[alleleid]",
        "alleleId": 723540,
        "preferredName": "NM_000459.5(TEK):c.1346A>G (p.Asn449Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/716945",
        "RCV": [
          "RCV000889664",
          "RCV001166623",
          "RCV003910550"
        ],
        "variationId": 716945
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/9-27190545-A-G",
        "id": "9-27190545-A-G",
        "variant": "9:27190545 A / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.27190545A>G?assembly=hg19",
        "id": "chr9:g.27190545A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.27190547A>G?assembly=hg38",
        "id": "chr9:g.27190547A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/149684174",
        "rs": 149684174
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-27190545-A-G?dataset=gnomad_r2_1",
        "id": "9-27190545-A-G",
        "variant": "9:27190545 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-27190547-A-G?dataset=gnomad_r3",
        "id": "9-27190547-A-G",
        "variant": "9:27190547 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-27190547-A-G?dataset=gnomad_r4",
        "id": "9-27190547-A-G",
        "variant": "9:27190547 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 27190547,
          "referenceAllele": "A",
          "start": 27190546
        }
      ],
      "hgvs": [
        "NC_000009.12:g.27190547A>G",
        "CM000671.2:g.27190547A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 27190545,
          "referenceAllele": "A",
          "start": 27190544
        }
      ],
      "hgvs": [
        "NC_000009.11:g.27190545A>G",
        "CM000671.1:g.27190545A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 27180545,
          "referenceAllele": "A",
          "start": 27180544
        }
      ],
      "hgvs": [
        "NC_000009.10:g.27180545A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 86399,
          "referenceAllele": "A",
          "start": 86398
        }
      ],
      "hgvs": [
        "NG_011828.1:g.86399A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002008"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1712,
          "referenceAllele": "A",
          "start": 1711
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011724",
      "geneNCBI_id": 7010,
      "geneSymbol": "TEK",
      "hgvs": [
        "ENST00000380036.10:c.1346A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369375.4:p.Asn449Ser",
        "hgvsWellDefined": "ENSP00000369375.4:p.Asn449Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752323",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000380036.10:c.1346A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000459.5:c.1346A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000369375.4:p.Asn449Ser"
          },
          "RefSeq": {
            "hgvs": "NP_000450.3:p.Asn449Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1788,
          "referenceAllele": "A",
          "start": 1787
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011724",
      "geneNCBI_id": 7010,
      "geneSymbol": "TEK",
      "hgvs": [
        "ENST00000380036.8:c.1346A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369375.4:p.Asn449Ser",
        "hgvsWellDefined": "ENSP00000369375.4:p.Asn449Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272752"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1392,
          "referenceAllele": "A",
          "start": 1391
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011724",
      "geneNCBI_id": 7010,
      "geneSymbol": "TEK",
      "hgvs": [
        "ENST00000406359.8:c.1217A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000383977.4:p.Asn406Ser",
        "hgvsWellDefined": "ENSP00000383977.4:p.Asn406Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280608"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 914,
          "referenceAllele": "A",
          "start": 913
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011724",
      "geneNCBI_id": 7010,
      "geneSymbol": "TEK",
      "hgvs": [
        "ENST00000519080.1:c.776A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000428337.1:p.Asn259Ser",
        "hgvsWellDefined": "ENSP00000428337.1:p.Asn259Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS346391"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1355,
          "referenceAllele": "A",
          "start": 1354
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011724",
      "geneNCBI_id": 7010,
      "geneSymbol": "TEK",
      "hgvs": [
        "ENST00000519097.5:c.905A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000430686.1:p.Asn302Ser",
        "hgvsWellDefined": "ENSP00000430686.1:p.Asn302Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS346405"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1659,
          "referenceAllele": "A",
          "start": 1658
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011724",
      "geneNCBI_id": 7010,
      "geneSymbol": "TEK",
      "hgvs": [
        "ENST00000615002.4:c.1217A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480251.1:p.Asn406Ser",
        "hgvsWellDefined": "ENSP00000480251.1:p.Asn406Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402436"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1796,
          "referenceAllele": "A",
          "start": 1795
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011724",
      "geneNCBI_id": 7010,
      "geneSymbol": "TEK",
      "hgvs": [
        "NM_000459.4:c.1346A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000450.2:p.Asn449Ser",
        "hgvsWellDefined": "NP_000450.2:p.Asn449Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006521"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1667,
          "referenceAllele": "A",
          "start": 1666
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011724",
      "geneNCBI_id": 7010,
      "geneSymbol": "TEK",
      "hgvs": [
        "NM_001290077.1:c.1217A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001277006.1:p.Asn406Ser",
        "hgvsWellDefined": "NP_001277006.1:p.Asn406Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024015"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1355,
          "referenceAllele": "A",
          "start": 1354
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011724",
      "geneNCBI_id": 7010,
      "geneSymbol": "TEK",
      "hgvs": [
        "NM_001290078.1:c.905A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001277007.1:p.Asn302Ser",
        "hgvsWellDefined": "NP_001277007.1:p.Asn302Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024016"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1463,
          "referenceAllele": "A",
          "start": 1462
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011724",
      "geneNCBI_id": 7010,
      "geneSymbol": "TEK",
      "hgvs": [
        "XM_005251561.1:c.1346A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251618.1:p.Asn449Ser",
        "hgvsWellDefined": "XP_005251618.1:p.Asn449Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059582"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1334,
          "referenceAllele": "A",
          "start": 1333
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011724",
      "geneNCBI_id": 7010,
      "geneSymbol": "TEK",
      "hgvs": [
        "XM_005251563.1:c.1217A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251620.1:p.Asn406Ser",
        "hgvsWellDefined": "XP_005251620.1:p.Asn406Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059583"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1487,
          "referenceAllele": "A",
          "start": 1486
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011724",
      "geneNCBI_id": 7010,
      "geneSymbol": "TEK",
      "hgvs": [
        "XM_005251561.2:c.1346A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251618.1:p.Asn449Ser",
        "hgvsWellDefined": "XP_005251618.1:p.Asn449Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533622"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1358,
          "referenceAllele": "A",
          "start": 1357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011724",
      "geneNCBI_id": 7010,
      "geneSymbol": "TEK",
      "hgvs": [
        "XM_005251563.2:c.1217A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251620.1:p.Asn406Ser",
        "hgvsWellDefined": "XP_005251620.1:p.Asn406Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533623"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825145928",
      "coordinates": [
        {
          "allele": "G",
          "end": 1712,
          "referenceAllele": "A",
          "start": 1711
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011724",
      "geneNCBI_id": 7010,
      "geneSymbol": "TEK",
      "hgvs": [
        "NM_000459.5:c.1346A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000450.3:p.Asn449Ser",
        "hgvsWellDefined": "NP_000450.3:p.Asn449Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674856",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000380036.10:c.1346A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000459.5:c.1346A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000369375.4:p.Asn449Ser"
          },
          "RefSeq": {
            "hgvs": "NP_000450.3:p.Asn449Ser"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA916048996",
      "coordinates": [
        {
          "allele": "G",
          "end": 1487,
          "referenceAllele": "A",
          "start": 1486
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011724",
      "geneNCBI_id": 7010,
      "geneSymbol": "TEK",
      "hgvs": [
        "NM_001375475.1:c.1346A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001362404.1:p.Asn449Ser",
        "hgvsWellDefined": "NP_001362404.1:p.Asn449Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693577"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828607759",
      "coordinates": [
        {
          "allele": "G",
          "end": 1358,
          "referenceAllele": "A",
          "start": 1357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011724",
      "geneNCBI_id": 7010,
      "geneSymbol": "TEK",
      "hgvs": [
        "NM_001375476.1:c.1217A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001362405.1:p.Asn406Ser",
        "hgvsWellDefined": "NP_001362405.1:p.Asn406Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693578"
    }
  ],
  "type": "nucleotide"
}