{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3495499",
  "communityStandardTitle": [
    "NM_006846.4(SPINK5):c.1194C>T (p.Asn398=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=301645[alleleid]",
        "alleleId": 301645,
        "preferredName": "NM_006846.4(SPINK5):c.1194C>T (p.Asn398=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/351522",
        "RCV": [
          "RCV000262923",
          "RCV003766027"
        ],
        "variationId": 351522
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/5-147480118-C-T",
        "id": "5-147480118-C-T",
        "variant": "5:147480118 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.147480118C>T?assembly=hg19",
        "id": "chr5:g.147480118C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.148100555C>T?assembly=hg38",
        "id": "chr5:g.148100555C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/750608792",
        "rs": 750608792
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-147480118-C-T?dataset=gnomad_r2_1",
        "id": "5-147480118-C-T",
        "variant": "5:147480118 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-148100555-C-T?dataset=gnomad_r3",
        "id": "5-148100555-C-T",
        "variant": "5:148100555 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-148100555-C-T?dataset=gnomad_r4",
        "id": "5-148100555-C-T",
        "variant": "5:148100555 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 148100555,
          "referenceAllele": "C",
          "start": 148100554
        }
      ],
      "hgvs": [
        "NC_000005.10:g.148100555C>T",
        "CM000667.2:g.148100555C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 147480118,
          "referenceAllele": "C",
          "start": 147480117
        }
      ],
      "hgvs": [
        "NC_000005.9:g.147480118C>T",
        "CM000667.1:g.147480118C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "T",
          "end": 147460311,
          "referenceAllele": "C",
          "start": 147460310
        }
      ],
      "hgvs": [
        "NC_000005.8:g.147460311C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 41584,
          "referenceAllele": "C",
          "start": 41583
        }
      ],
      "hgvs": [
        "NG_009633.1:g.41584C>T",
        "LRG_110:g.41584C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001623"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 803,
          "referenceAllele": "C",
          "start": 802
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015464",
      "geneNCBI_id": 11005,
      "geneSymbol": "SPINK5",
      "hgvs": [
        "ENST00000481286.6:n.803C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS905281"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1259,
          "referenceAllele": "C",
          "start": 1258
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015464",
      "geneNCBI_id": 11005,
      "geneSymbol": "SPINK5",
      "hgvs": [
        "ENST00000256084.8:c.1194C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000256084.7:p.Asn398="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741747",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000256084.8:c.1194C>T"
          },
          "RefSeq": {
            "hgvs": "NM_006846.4:c.1194C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000256084.7:p.Asn398="
          },
          "RefSeq": {
            "hgvs": "NP_006837.2:p.Asn398="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1236,
          "referenceAllele": "C",
          "start": 1235
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015464",
      "geneNCBI_id": 11005,
      "geneSymbol": "SPINK5",
      "hgvs": [
        "ENST00000256084.7:c.1194C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000256084.7:p.Asn398="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250143"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1267,
          "referenceAllele": "C",
          "start": 1266
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015464",
      "geneNCBI_id": 11005,
      "geneSymbol": "SPINK5",
      "hgvs": [
        "ENST00000359874.7:c.1194C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352936.3:p.Asn398="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264935"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1267,
          "referenceAllele": "C",
          "start": 1266
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015464",
      "geneNCBI_id": 11005,
      "geneSymbol": "SPINK5",
      "hgvs": [
        "ENST00000398454.5:c.1194C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381472.1:p.Asn398="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278270"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 710,
          "referenceAllele": "C",
          "start": 709
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015464",
      "geneNCBI_id": 11005,
      "geneSymbol": "SPINK5",
      "hgvs": [
        "ENST00000476608.1:n.710C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS317618"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1358,
          "referenceAllele": "C",
          "start": 1357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015464",
      "geneNCBI_id": 11005,
      "geneSymbol": "SPINK5",
      "hgvs": [
        "ENST00000507988.5:n.1358C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS339126"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1202,
          "referenceAllele": "C",
          "start": 1201
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015464",
      "geneNCBI_id": 11005,
      "geneSymbol": "SPINK5",
      "hgvs": [
        "ENST00000508733.5:c.1137C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000421519.1:p.Asn379="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS339685"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825654734",
      "coordinates": [
        {
          "allele": "T",
          "end": 1267,
          "referenceAllele": "C",
          "start": 1266
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015464",
      "geneNCBI_id": 11005,
      "geneSymbol": "SPINK5",
      "hgvs": [
        "NM_001127698.1:c.1194C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121170.1:p.Asn398="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011680"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825655225",
      "coordinates": [
        {
          "allele": "T",
          "end": 1267,
          "referenceAllele": "C",
          "start": 1266
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015464",
      "geneNCBI_id": 11005,
      "geneSymbol": "SPINK5",
      "hgvs": [
        "NM_001127699.1:c.1194C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121171.1:p.Asn398="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011681"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829662556",
      "coordinates": [
        {
          "allele": "T",
          "end": 1267,
          "referenceAllele": "C",
          "start": 1266
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015464",
      "geneNCBI_id": 11005,
      "geneSymbol": "SPINK5",
      "hgvs": [
        "NM_006846.3:c.1194C>T",
        "LRG_110t1:c.1194C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_006837.2:p.Asn398="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031827"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1418,
          "referenceAllele": "C",
          "start": 1417
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015464",
      "geneNCBI_id": 11005,
      "geneSymbol": "SPINK5",
      "hgvs": [
        "XM_011537550.1:c.1137C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535852.1:p.Asn379="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104514"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1370,
          "referenceAllele": "C",
          "start": 1369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015464",
      "geneNCBI_id": 11005,
      "geneSymbol": "SPINK5",
      "hgvs": [
        "XM_011537551.1:c.1110C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535853.1:p.Asn370="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104515"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1353,
          "referenceAllele": "C",
          "start": 1352
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015464",
      "geneNCBI_id": 11005,
      "geneSymbol": "SPINK5",
      "hgvs": [
        "XM_011537551.2:c.1110C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535853.1:p.Asn370="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552929"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825654734",
      "coordinates": [
        {
          "allele": "T",
          "end": 1259,
          "referenceAllele": "C",
          "start": 1258
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015464",
      "geneNCBI_id": 11005,
      "geneSymbol": "SPINK5",
      "hgvs": [
        "NM_001127698.2:c.1194C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121170.1:p.Asn398="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676932"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825655225",
      "coordinates": [
        {
          "allele": "T",
          "end": 1259,
          "referenceAllele": "C",
          "start": 1258
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015464",
      "geneNCBI_id": 11005,
      "geneSymbol": "SPINK5",
      "hgvs": [
        "NM_001127699.2:c.1194C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121171.1:p.Asn398="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676933"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829662556",
      "coordinates": [
        {
          "allele": "T",
          "end": 1259,
          "referenceAllele": "C",
          "start": 1258
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015464",
      "geneNCBI_id": 11005,
      "geneSymbol": "SPINK5",
      "hgvs": [
        "NM_006846.4:c.1194C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_006837.2:p.Asn398="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696831",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000256084.8:c.1194C>T"
          },
          "RefSeq": {
            "hgvs": "NM_006846.4:c.1194C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000256084.7:p.Asn398="
          },
          "RefSeq": {
            "hgvs": "NP_006837.2:p.Asn398="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}