{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA8175566",
  "communityStandardTitle": [
    "NM_021615.5(CHST6):c.172C>T (p.Gln58Ter)"
  ],
  "externalRecords": {
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=488950[alleleid]",
        "alleleId": 488950,
        "preferredName": "NM_021615.5(CHST6):c.172C>T (p.Gln58Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/497526",
        "RCV": [
          "RCV000598391",
          "RCV002506409"
        ],
        "variationId": 497526
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/16-75513555-G-A",
        "id": "16-75513555-G-A",
        "variant": "16:75513555 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.75513555G>A?assembly=hg19",
        "id": "chr16:g.75513555G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.75479657G>A?assembly=hg38",
        "id": "chr16:g.75479657G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/756036451",
        "rs": 756036451
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    "gnomAD_2": [
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        "@id": "http://gnomad.broadinstitute.org/variant/16-75513555-G-A?dataset=gnomad_r2_1",
        "id": "16-75513555-G-A",
        "variant": "16:75513555 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-75479657-G-A?dataset=gnomad_r4",
        "id": "16-75479657-G-A",
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      }
    ]
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      "chromosome": "16",
      "coordinates": [
        {
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          "referenceAllele": "G",
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      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
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      "referenceGenome": "GRCh37",
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    },
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      "chromosome": "16",
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      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
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          "referenceAllele": "C",
          "start": 20371
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      "referenceSequence": "http://reg.genome.network/refseq/RS003191"
    },
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          "end": 20785,
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      "referenceSequence": "http://reg.genome.network/refseq/RS616227"
    }
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  "transcriptAlleles": [
    {
      "coordinates": [
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747218",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
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            "hgvs": "NM_021615.5:c.172C>T"
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752869"
    },
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      "coordinates": [
        {
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          "referenceAllele": "C",
          "start": 768
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      "referenceSequence": "http://reg.genome.network/refseq/RS770486"
    },
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        {
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      "referenceSequence": "http://reg.genome.network/refseq/RS770779"
    },
    {
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        {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259532"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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          "start": 863
        }
      ],
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274641"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658806655",
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        {
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        }
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036977"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061106"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 528,
          "referenceAllele": "C",
          "start": 527
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      ],
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      "hgvs": [
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        "hgvsWellDefined": "XP_011521387.1:p.Gln58_Asn395delinsLeuPheAsnGlnHisProAspValPheTyrLeuMetGluProAlaTrpHisValTrpThrThrLeuSerGlnGlySerAlaAlaThrLeuHisMetAlaValArgAspLeuValArgSerValPheLeuCysAspMetAspValPheAspAlaTyrLeuProTrpArgArgAsnLeuSerAspLeuPheGlnTrpAlaValSerArgAlaLeuCysSerProProAlaCysSerAlaPheProArgGlyAlaIleSerSerGluAlaValCysLysProLeuCysAlaArgGlnSerPheThrLeuAlaArgGluAlaCysArgSerTyrSerHisValValLeuLysGluValArgPhePheAsnLeuGlnValLeuTyrProLeuLeuSerAspProAlaLeuAsnLeuArgIleValHisLeuValArgAspProArgAlaValLeuArgSerArgGluGlnThrAlaLysAlaLeuAlaArgAspAsnGlyIleValLeuGlyThrAsnGlyThrTrpValGluAlaAspProGlyLeuArgValValArgGluValCysArgSerHisValArgIleAlaGluAlaAlaThrLeuLysProProProPheLeuArgGlyArgTyrArgLeuValArgPheGluAspLeuAlaArgGluProLeuAlaGluIleArgAlaLeuTyrAlaPheThrGlyLeuSerLeuThrProGlnLeuGluAlaTrpIleHisAsnIleThrHisGlySerGlyProGlyAlaArgArgGluAlaPheLysThrSerSerArgAsnAlaLeuAsnValSerGlnAlaTrpArgHisAlaLeuProPheAlaLysIleArgArgValGlnGluLeuCysAlaGlyAlaLeuGlnLeuLeuGlyTyrArgProValTyrSerGluAspGluGlnArgAsnLeuAlaLeuAspLeuValLeuProArgGlyLeuAsnGlyPheThrTrpAlaSerSerThrAlaSerHisProArgAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090225"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658806655",
      "coordinates": [
        {
          "allele": "T",
          "end": 765,
          "referenceAllele": "C",
          "start": 764
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006938",
      "geneNCBI_id": 4166,
      "geneSymbol": "CHST6",
      "hgvs": [
        "NM_021615.5:c.172C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_067628.1:p.Gln58Ter",
        "hgvsWellDefined": "NP_067628.1:p.Gln58_Asn395delinsLeuPheAsnGlnHisProAspValPheTyrLeuMetGluProAlaTrpHisValTrpThrThrLeuSerGlnGlySerAlaAlaThrLeuHisMetAlaValArgAspLeuValArgSerValPheLeuCysAspMetAspValPheAspAlaTyrLeuProTrpArgArgAsnLeuSerAspLeuPheGlnTrpAlaValSerArgAlaLeuCysSerProProAlaCysSerAlaPheProArgGlyAlaIleSerSerGluAlaValCysLysProLeuCysAlaArgGlnSerPheThrLeuAlaArgGluAlaCysArgSerTyrSerHisValValLeuLysGluValArgPhePheAsnLeuGlnValLeuTyrProLeuLeuSerAspProAlaLeuAsnLeuArgIleValHisLeuValArgAspProArgAlaValLeuArgSerArgGluGlnThrAlaLysAlaLeuAlaArgAspAsnGlyIleValLeuGlyThrAsnGlyThrTrpValGluAlaAspProGlyLeuArgValValArgGluValCysArgSerHisValArgIleAlaGluAlaAlaThrLeuLysProProProPheLeuArgGlyArgTyrArgLeuValArgPheGluAspLeuAlaArgGluProLeuAlaGluIleArgAlaLeuTyrAlaPheThrGlyLeuSerLeuThrProGlnLeuGluAlaTrpIleHisAsnIleThrHisGlySerGlyProGlyAlaArgArgGluAlaPheLysThrSerSerArgAsnAlaLeuAsnValSerGlnAlaTrpArgHisAlaLeuProPheAlaLysIleArgArgValGlnGluLeuCysAlaGlyAlaLeuGlnLeuLeuGlyTyrArgProValTyrSerGluAspGluGlnArgAsnLeuAlaLeuAspLeuValLeuProArgGlyLeuAsnGlyPheThrTrpAlaSerSerThrAlaSerHisProArgAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526053",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000332272.9:c.172C>T"
          },
          "RefSeq": {
            "hgvs": "NM_021615.5:c.172C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000328983.4:p.Gln58Ter"
          },
          "RefSeq": {
            "hgvs": "NP_067628.1:p.Gln58Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 910,
          "referenceAllele": "C",
          "start": 909
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006938",
      "geneNCBI_id": 4166,
      "geneSymbol": "CHST6",
      "hgvs": [
        "XM_005255955.5:c.172C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005256012.1:p.Gln58Ter",
        "hgvsWellDefined": "XP_005256012.1:p.Gln58_Asn395delinsLeuPheAsnGlnHisProAspValPheTyrLeuMetGluProAlaTrpHisValTrpThrThrLeuSerGlnGlySerAlaAlaThrLeuHisMetAlaValArgAspLeuValArgSerValPheLeuCysAspMetAspValPheAspAlaTyrLeuProTrpArgArgAsnLeuSerAspLeuPheGlnTrpAlaValSerArgAlaLeuCysSerProProAlaCysSerAlaPheProArgGlyAlaIleSerSerGluAlaValCysLysProLeuCysAlaArgGlnSerPheThrLeuAlaArgGluAlaCysArgSerTyrSerHisValValLeuLysGluValArgPhePheAsnLeuGlnValLeuTyrProLeuLeuSerAspProAlaLeuAsnLeuArgIleValHisLeuValArgAspProArgAlaValLeuArgSerArgGluGlnThrAlaLysAlaLeuAlaArgAspAsnGlyIleValLeuGlyThrAsnGlyThrTrpValGluAlaAspProGlyLeuArgValValArgGluValCysArgSerHisValArgIleAlaGluAlaAlaThrLeuLysProProProPheLeuArgGlyArgTyrArgLeuValArgPheGluAspLeuAlaArgGluProLeuAlaGluIleArgAlaLeuTyrAlaPheThrGlyLeuSerLeuThrProGlnLeuGluAlaTrpIleHisAsnIleThrHisGlySerGlyProGlyAlaArgArgGluAlaPheLysThrSerSerArgAsnAlaLeuAsnValSerGlnAlaTrpArgHisAlaLeuProPheAlaLysIleArgArgValGlnGluLeuCysAlaGlyAlaLeuGlnLeuLeuGlyTyrArgProValTyrSerGluAspGluGlnArgAsnLeuAlaLeuAspLeuValLeuProArgGlyLeuAsnGlyPheThrTrpAlaSerSerThrAlaSerHisProArgAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534358"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 967,
          "referenceAllele": "C",
          "start": 966
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006938",
      "geneNCBI_id": 4166,
      "geneSymbol": "CHST6",
      "hgvs": [
        "XM_011523085.3:c.172C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521387.1:p.Gln58Ter",
        "hgvsWellDefined": "XP_011521387.1:p.Gln58_Asn395delinsLeuPheAsnGlnHisProAspValPheTyrLeuMetGluProAlaTrpHisValTrpThrThrLeuSerGlnGlySerAlaAlaThrLeuHisMetAlaValArgAspLeuValArgSerValPheLeuCysAspMetAspValPheAspAlaTyrLeuProTrpArgArgAsnLeuSerAspLeuPheGlnTrpAlaValSerArgAlaLeuCysSerProProAlaCysSerAlaPheProArgGlyAlaIleSerSerGluAlaValCysLysProLeuCysAlaArgGlnSerPheThrLeuAlaArgGluAlaCysArgSerTyrSerHisValValLeuLysGluValArgPhePheAsnLeuGlnValLeuTyrProLeuLeuSerAspProAlaLeuAsnLeuArgIleValHisLeuValArgAspProArgAlaValLeuArgSerArgGluGlnThrAlaLysAlaLeuAlaArgAspAsnGlyIleValLeuGlyThrAsnGlyThrTrpValGluAlaAspProGlyLeuArgValValArgGluValCysArgSerHisValArgIleAlaGluAlaAlaThrLeuLysProProProPheLeuArgGlyArgTyrArgLeuValArgPheGluAspLeuAlaArgGluProLeuAlaGluIleArgAlaLeuTyrAlaPheThrGlyLeuSerLeuThrProGlnLeuGluAlaTrpIleHisAsnIleThrHisGlySerGlyProGlyAlaArgArgGluAlaPheLysThrSerSerArgAsnAlaLeuAsnValSerGlnAlaTrpArgHisAlaLeuProPheAlaLysIleArgArgValGlnGluLeuCysAlaGlyAlaLeuGlnLeuLeuGlyTyrArgProValTyrSerGluAspGluGlnArgAsnLeuAlaLeuAspLeuValLeuProArgGlyLeuAsnGlyPheThrTrpAlaSerSerThrAlaSerHisProArgAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546884"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 733,
          "endIntronDirection": "+",
          "endIntronOffset": 2160,
          "referenceAllele": "C",
          "start": 733,
          "startIntronDirection": "+",
          "startIntronOffset": 2159
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006938",
      "geneNCBI_id": 4166,
      "geneSymbol": "CHST6",
      "hgvs": [
        "NR_163480.1:n.733+2160C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS705571"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 577,
          "endIntronDirection": "+",
          "endIntronOffset": 2160,
          "referenceAllele": "C",
          "start": 577,
          "startIntronDirection": "+",
          "startIntronOffset": 2159
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006938",
      "geneNCBI_id": 4166,
      "geneSymbol": "CHST6",
      "hgvs": [
        "NR_163481.1:n.577+2160C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS705572"
    }
  ],
  "type": "nucleotide"
}