{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA59742520",
  "communityStandardTitle": [
    "NM_004482.4(GALNT3):c.1696C>T (p.Gln566Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1922756[alleleid]",
        "alleleId": 1922756,
        "preferredName": "NM_004482.4(GALNT3):c.1696C>T (p.Gln566Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2192673",
        "RCV": [
          "RCV003236597",
          "RCV002643794"
        ],
        "variationId": 2192673
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.166606335G>A?assembly=hg19",
        "id": "chr2:g.166606335G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.165749825G>A?assembly=hg38",
        "id": "chr2:g.165749825G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/571016917",
        "rs": 571016917
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-166606335-G-A?dataset=gnomad_r2_1",
        "id": "2-166606335-G-A",
        "variant": "2:166606335 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-165749825-G-A?dataset=gnomad_r3",
        "id": "2-165749825-G-A",
        "variant": "2:165749825 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-165749825-G-A?dataset=gnomad_r4",
        "id": "2-165749825-G-A",
        "variant": "2:165749825 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 165749825,
          "referenceAllele": "G",
          "start": 165749824
        }
      ],
      "hgvs": [
        "NC_000002.12:g.165749825G>A",
        "CM000664.2:g.165749825G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 166606335,
          "referenceAllele": "G",
          "start": 166606334
        }
      ],
      "hgvs": [
        "NC_000002.11:g.166606335G>A",
        "CM000664.1:g.166606335G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 166314581,
          "referenceAllele": "G",
          "start": 166314580
        }
      ],
      "hgvs": [
        "NC_000002.10:g.166314581G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 49469,
          "referenceAllele": "C",
          "start": 49468
        }
      ],
      "hgvs": [
        "NG_012069.1:g.49469C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002154"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2037,
          "referenceAllele": "C",
          "start": 2036
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004125",
      "geneNCBI_id": 2591,
      "geneSymbol": "GALNT3",
      "hgvs": [
        "ENST00000392701.8:c.1696C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376465.3:p.Gln566Ter",
        "hgvsWellDefined": "ENSP00000376465.3:p.Gln566_Asp633delinsGlyLeuValGlnLeuLysAlaCysThrTyrLysGlyHisLysThrValValThrGlyGluGlnIleTrpGluIleGlnLysAspGlnLeuLeuTyrAsnProPheLeuLysMetCysLeuSerAlaAsnGlyGluHisProSerLeuValSerCysAsnProSerAspProLeuGlnLysTrpIleLeuSerGlnAsnAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753041",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000392701.8:c.1696C>T"
          },
          "RefSeq": {
            "hgvs": "NM_004482.4:c.1696C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000376465.3:p.Gln566Ter"
          },
          "RefSeq": {
            "hgvs": "NP_004473.2:p.Gln566Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2472,
          "referenceAllele": "C",
          "start": 2471
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004125",
      "geneNCBI_id": 2591,
      "geneSymbol": "GALNT3",
      "hgvs": [
        "ENST00000392701.7:c.1696C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376465.3:p.Gln566Ter",
        "hgvsWellDefined": "ENSP00000376465.3:p.Gln566_Asp633delinsGlyLeuValGlnLeuLysAlaCysThrTyrLysGlyHisLysThrValValThrGlyGluGlnIleTrpGluIleGlnLysAspGlnLeuLeuTyrAsnProPheLeuLysMetCysLeuSerAlaAsnGlyGluHisProSerLeuValSerCysAsnProSerAspProLeuGlnLysTrpIleLeuSerGlnAsnAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275243"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 923,
          "referenceAllele": "C",
          "start": 922
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004125",
      "geneNCBI_id": 2591,
      "geneSymbol": "GALNT3",
      "hgvs": [
        "ENST00000409882.5:c.910C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386955.1:p.Gln304Ter",
        "hgvsWellDefined": "ENSP00000386955.1:p.Gln304_Asp371delinsGlyLeuValGlnLeuLysAlaCysThrTyrLysGlyHisLysThrValValThrGlyGluGlnIleTrpGluIleGlnLysAspGlnLeuLeuTyrAsnProPheLeuLysMetCysLeuSerAlaAsnGlyGluHisProSerLeuValSerCysAsnProSerAspProLeuGlnLysTrpIleLeuSerGlnAsnAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281931"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580314600",
      "coordinates": [
        {
          "allele": "T",
          "end": 2083,
          "referenceAllele": "C",
          "start": 2082
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004125",
      "geneNCBI_id": 2591,
      "geneSymbol": "GALNT3",
      "hgvs": [
        "NM_004482.3:c.1696C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004473.2:p.Gln566Ter",
        "hgvsWellDefined": "NP_004473.2:p.Gln566_Asp633delinsGlyLeuValGlnLeuLysAlaCysThrTyrLysGlyHisLysThrValValThrGlyGluGlnIleTrpGluIleGlnLysAspGlnLeuLeuTyrAsnProPheLeuLysMetCysLeuSerAlaAsnGlyGluHisProSerLeuValSerCysAsnProSerAspProLeuGlnLysTrpIleLeuSerGlnAsnAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029642"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2231,
          "referenceAllele": "C",
          "start": 2230
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004125",
      "geneNCBI_id": 2591,
      "geneSymbol": "GALNT3",
      "hgvs": [
        "XM_005246449.1:c.1696C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246506.1:p.Gln566Ter",
        "hgvsWellDefined": "XP_005246506.1:p.Gln566_Asp633delinsGlyLeuValGlnLeuLysAlaCysThrTyrLysGlyHisLysThrValValThrGlyGluGlnIleTrpGluIleGlnLysAspGlnLeuLeuTyrAsnProPheLeuLysMetCysLeuSerAlaAsnGlyGluHisProSerLeuValSerCysAsnProSerAspProLeuGlnLysTrpIleLeuSerGlnAsnAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057630"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1966,
          "referenceAllele": "C",
          "start": 1965
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004125",
      "geneNCBI_id": 2591,
      "geneSymbol": "GALNT3",
      "hgvs": [
        "XM_011510929.1:c.1696C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509231.1:p.Gln566Ter",
        "hgvsWellDefined": "XP_011509231.1:p.Gln566_Asp633delinsGlyLeuValGlnLeuLysAlaCysThrTyrLysGlyHisLysThrValValThrGlyGluGlnIleTrpGluIleGlnLysAspGlnLeuLeuTyrAsnProPheLeuLysMetCysLeuSerAlaAsnGlyGluHisProSerLeuValSerCysAsnProSerAspProLeuGlnLysTrpIleLeuSerGlnAsnAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078190"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3832,
          "referenceAllele": "C",
          "start": 3831
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004125",
      "geneNCBI_id": 2591,
      "geneSymbol": "GALNT3",
      "hgvs": [
        "XM_017003770.1:c.1696C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016859259.1:p.Gln566Ter",
        "hgvsWellDefined": "XP_016859259.1:p.Gln566_Asp633delinsGlyLeuValGlnLeuLysAlaCysThrTyrLysGlyHisLysThrValValThrGlyGluGlnIleTrpGluIleGlnLysAspGlnLeuLeuTyrAsnProPheLeuLysMetCysLeuSerAlaAsnGlyGluHisProSerLeuValSerCysAsnProSerAspProLeuGlnLysTrpIleLeuSerGlnAsnAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559418"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580314600",
      "coordinates": [
        {
          "allele": "T",
          "end": 2037,
          "referenceAllele": "C",
          "start": 2036
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004125",
      "geneNCBI_id": 2591,
      "geneSymbol": "GALNT3",
      "hgvs": [
        "NM_004482.4:c.1696C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004473.2:p.Gln566Ter",
        "hgvsWellDefined": "NP_004473.2:p.Gln566_Asp633delinsGlyLeuValGlnLeuLysAlaCysThrTyrLysGlyHisLysThrValValThrGlyGluGlnIleTrpGluIleGlnLysAspGlnLeuLeuTyrAsnProPheLeuLysMetCysLeuSerAlaAsnGlyGluHisProSerLeuValSerCysAsnProSerAspProLeuGlnLysTrpIleLeuSerGlnAsnAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696151",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000392701.8:c.1696C>T"
          },
          "RefSeq": {
            "hgvs": "NM_004482.4:c.1696C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000376465.3:p.Gln566Ter"
          },
          "RefSeq": {
            "hgvs": "NP_004473.2:p.Gln566Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}