{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA128932486",
  "communityStandardTitle": [
    "NM_006846.4(SPINK5):c.1941A>G (p.Thr647=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=795648[alleleid]",
        "alleleId": 795648,
        "preferredName": "NM_006846.4(SPINK5):c.1941A>G (p.Thr647=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/809815",
        "RCV": [
          "RCV000998456",
          "RCV003769368"
        ],
        "variationId": 809815
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.147493978A>G?assembly=hg19",
        "id": "chr5:g.147493978A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.148114415A>G?assembly=hg38",
        "id": "chr5:g.148114415A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/927214297",
        "rs": 927214297
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-147493978-A-G?dataset=gnomad_r2_1",
        "id": "5-147493978-A-G",
        "variant": "5:147493978 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-148114415-A-G?dataset=gnomad_r4",
        "id": "5-148114415-A-G",
        "variant": "5:148114415 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "G",
          "end": 148114415,
          "referenceAllele": "A",
          "start": 148114414
        }
      ],
      "hgvs": [
        "NC_000005.10:g.148114415A>G",
        "CM000667.2:g.148114415A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "G",
          "end": 147493978,
          "referenceAllele": "A",
          "start": 147493977
        }
      ],
      "hgvs": [
        "NC_000005.9:g.147493978A>G",
        "CM000667.1:g.147493978A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "G",
          "end": 147474171,
          "referenceAllele": "A",
          "start": 147474170
        }
      ],
      "hgvs": [
        "NC_000005.8:g.147474171A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 55444,
          "referenceAllele": "A",
          "start": 55443
        }
      ],
      "hgvs": [
        "NG_009633.1:g.55444A>G",
        "LRG_110:g.55444A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001623"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2006,
          "referenceAllele": "A",
          "start": 2005
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015464",
      "geneNCBI_id": 11005,
      "geneSymbol": "SPINK5",
      "hgvs": [
        "ENST00000256084.8:c.1941A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000256084.7:p.Thr647="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741747",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000256084.8:c.1941A>G"
          },
          "RefSeq": {
            "hgvs": "NM_006846.4:c.1941A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000256084.7:p.Thr647="
          },
          "RefSeq": {
            "hgvs": "NP_006837.2:p.Thr647="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1983,
          "referenceAllele": "A",
          "start": 1982
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015464",
      "geneNCBI_id": 11005,
      "geneSymbol": "SPINK5",
      "hgvs": [
        "ENST00000256084.7:c.1941A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000256084.7:p.Thr647="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250143"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2014,
          "referenceAllele": "A",
          "start": 2013
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015464",
      "geneNCBI_id": 11005,
      "geneSymbol": "SPINK5",
      "hgvs": [
        "ENST00000359874.7:c.1941A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352936.3:p.Thr647="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264935"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2014,
          "referenceAllele": "A",
          "start": 2013
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015464",
      "geneNCBI_id": 11005,
      "geneSymbol": "SPINK5",
      "hgvs": [
        "ENST00000398454.5:c.1941A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381472.1:p.Thr647="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278270"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2105,
          "referenceAllele": "A",
          "start": 2104
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015464",
      "geneNCBI_id": 11005,
      "geneSymbol": "SPINK5",
      "hgvs": [
        "ENST00000507988.5:n.2105A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS339126"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1949,
          "referenceAllele": "A",
          "start": 1948
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015464",
      "geneNCBI_id": 11005,
      "geneSymbol": "SPINK5",
      "hgvs": [
        "ENST00000508733.5:c.1884A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000421519.1:p.Thr628="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS339685"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825654864",
      "coordinates": [
        {
          "allele": "G",
          "end": 2014,
          "referenceAllele": "A",
          "start": 2013
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015464",
      "geneNCBI_id": 11005,
      "geneSymbol": "SPINK5",
      "hgvs": [
        "NM_001127698.1:c.1941A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121170.1:p.Thr647="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011680"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825655355",
      "coordinates": [
        {
          "allele": "G",
          "end": 2014,
          "referenceAllele": "A",
          "start": 2013
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015464",
      "geneNCBI_id": 11005,
      "geneSymbol": "SPINK5",
      "hgvs": [
        "NM_001127699.1:c.1941A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121171.1:p.Thr647="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011681"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829662646",
      "coordinates": [
        {
          "allele": "G",
          "end": 2014,
          "referenceAllele": "A",
          "start": 2013
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015464",
      "geneNCBI_id": 11005,
      "geneSymbol": "SPINK5",
      "hgvs": [
        "NM_006846.3:c.1941A>G",
        "LRG_110t1:c.1941A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_006837.2:p.Thr647="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031827"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2165,
          "referenceAllele": "A",
          "start": 2164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015464",
      "geneNCBI_id": 11005,
      "geneSymbol": "SPINK5",
      "hgvs": [
        "XM_011537550.1:c.1884A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535852.1:p.Thr628="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104514"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2117,
          "referenceAllele": "A",
          "start": 2116
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015464",
      "geneNCBI_id": 11005,
      "geneSymbol": "SPINK5",
      "hgvs": [
        "XM_011537551.1:c.1857A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535853.1:p.Thr619="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104515"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2100,
          "referenceAllele": "A",
          "start": 2099
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015464",
      "geneNCBI_id": 11005,
      "geneSymbol": "SPINK5",
      "hgvs": [
        "XM_011537551.2:c.1857A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535853.1:p.Thr619="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552929"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825654864",
      "coordinates": [
        {
          "allele": "G",
          "end": 2006,
          "referenceAllele": "A",
          "start": 2005
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015464",
      "geneNCBI_id": 11005,
      "geneSymbol": "SPINK5",
      "hgvs": [
        "NM_001127698.2:c.1941A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121170.1:p.Thr647="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676932"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825655355",
      "coordinates": [
        {
          "allele": "G",
          "end": 2006,
          "referenceAllele": "A",
          "start": 2005
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015464",
      "geneNCBI_id": 11005,
      "geneSymbol": "SPINK5",
      "hgvs": [
        "NM_001127699.2:c.1941A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121171.1:p.Thr647="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676933"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829662646",
      "coordinates": [
        {
          "allele": "G",
          "end": 2006,
          "referenceAllele": "A",
          "start": 2005
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015464",
      "geneNCBI_id": 11005,
      "geneSymbol": "SPINK5",
      "hgvs": [
        "NM_006846.4:c.1941A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_006837.2:p.Thr647="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696831",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000256084.8:c.1941A>G"
          },
          "RefSeq": {
            "hgvs": "NM_006846.4:c.1941A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000256084.7:p.Thr647="
          },
          "RefSeq": {
            "hgvs": "NP_006837.2:p.Thr647="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}