{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA408704165",
  "communityStandardTitle": [
    "NM_000178.4(GSS):c.491G>T (p.Arg164Leu)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=4562856[alleleid]",
        "alleleId": 4562856,
        "preferredName": "NM_000178.4(GSS):c.491G>T (p.Arg164Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4449546",
        "RCV": [
          "RCV006152640"
        ],
        "variationId": 4449546
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr20:g.33530291C>A?assembly=hg19",
        "id": "chr20:g.33530291C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr20:g.34942488C>A?assembly=hg38",
        "id": "chr20:g.34942488C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121909307",
        "rs": 121909307
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/20-34942488-C-A?dataset=gnomad_r4",
        "id": "20-34942488-C-A",
        "variant": "20:34942488 C / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "A",
          "end": 34942488,
          "referenceAllele": "C",
          "start": 34942487
        }
      ],
      "hgvs": [
        "NC_000020.11:g.34942488C>A",
        "CM000682.2:g.34942488C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000068"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "A",
          "end": 33530291,
          "referenceAllele": "C",
          "start": 33530290
        }
      ],
      "hgvs": [
        "NC_000020.10:g.33530291C>A",
        "CM000682.1:g.33530291C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000044"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "A",
          "end": 32993952,
          "referenceAllele": "C",
          "start": 32993951
        }
      ],
      "hgvs": [
        "NC_000020.9:g.32993952C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000020"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 18311,
          "referenceAllele": "G",
          "start": 18310
        }
      ],
      "hgvs": [
        "NG_008848.1:g.18311G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001244"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 18540,
          "referenceAllele": "G",
          "start": 18539
        }
      ],
      "hgvs": [
        "NG_008848.2:g.18540G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616116"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 383,
          "referenceAllele": "G",
          "start": 382
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004624",
      "geneNCBI_id": 2937,
      "geneSymbol": "GSS",
      "hgvs": [
        "ENST00000642493.1:c.*198G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493524.1:n.*198G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766774"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 556,
          "referenceAllele": "G",
          "start": 555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004624",
      "geneNCBI_id": 2937,
      "geneSymbol": "GSS",
      "hgvs": [
        "ENST00000642498.1:c.491G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493631.1:p.Arg164Leu",
        "hgvsWellDefined": "ENSP00000493631.1:p.Arg164Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766777"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 421,
          "endIntronDirection": "+",
          "endIntronOffset": 443,
          "referenceAllele": "G",
          "start": 421,
          "startIntronDirection": "+",
          "startIntronOffset": 442
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004624",
      "geneNCBI_id": 2937,
      "geneSymbol": "GSS",
      "hgvs": [
        "ENST00000642538.1:c.351+443G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493927.1:n.351+443G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766801"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 657,
          "referenceAllele": "G",
          "start": 656
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004624",
      "geneNCBI_id": 2937,
      "geneSymbol": "GSS",
      "hgvs": [
        "ENST00000643188.1:c.491G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493903.1:p.Arg164Leu",
        "hgvsWellDefined": "ENSP00000493903.1:p.Arg164Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767142"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 481,
          "referenceAllele": "G",
          "start": 480
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004624",
      "geneNCBI_id": 2937,
      "geneSymbol": "GSS",
      "hgvs": [
        "ENST00000643443.1:c.*198G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495572.1:n.*198G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767284"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 148,
          "referenceAllele": "G",
          "start": 147
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004624",
      "geneNCBI_id": 2937,
      "geneSymbol": "GSS",
      "hgvs": [
        "ENST00000643502.1:c.148G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767316"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 854,
          "referenceAllele": "G",
          "start": 853
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004624",
      "geneNCBI_id": 2937,
      "geneSymbol": "GSS",
      "hgvs": [
        "ENST00000643908.1:n.854G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767535"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 768,
          "referenceAllele": "G",
          "start": 767
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004624",
      "geneNCBI_id": 2937,
      "geneSymbol": "GSS",
      "hgvs": [
        "ENST00000644538.1:n.768G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767870"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1419,
          "referenceAllele": "G",
          "start": 1418
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004624",
      "geneNCBI_id": 2937,
      "geneSymbol": "GSS",
      "hgvs": [
        "ENST00000644793.1:c.491G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495750.1:p.Arg164Leu",
        "hgvsWellDefined": "ENSP00000495750.1:p.Arg164Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768000"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 91,
          "referenceAllele": "G",
          "start": 90
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004624",
      "geneNCBI_id": 2937,
      "geneSymbol": "GSS",
      "hgvs": [
        "ENST00000645408.1:c.91G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768336"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1730,
          "referenceAllele": "G",
          "start": 1729
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004624",
      "geneNCBI_id": 2937,
      "geneSymbol": "GSS",
      "hgvs": [
        "ENST00000645723.1:n.1730G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768517"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 416,
          "endIntronDirection": "+",
          "endIntronOffset": 443,
          "referenceAllele": "G",
          "start": 416,
          "startIntronDirection": "+",
          "startIntronOffset": 442
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004624",
      "geneNCBI_id": 2937,
      "geneSymbol": "GSS",
      "hgvs": [
        "ENST00000646405.1:c.351+443G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493744.1:n.351+443G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768853"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 438,
          "referenceAllele": "G",
          "start": 437
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004624",
      "geneNCBI_id": 2937,
      "geneSymbol": "GSS",
      "hgvs": [
        "ENST00000646497.1:n.438G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768907"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 973,
          "referenceAllele": "G",
          "start": 972
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004624",
      "geneNCBI_id": 2937,
      "geneSymbol": "GSS",
      "hgvs": [
        "ENST00000646502.1:n.973G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768910"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 704,
          "referenceAllele": "G",
          "start": 703
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004624",
      "geneNCBI_id": 2937,
      "geneSymbol": "GSS",
      "hgvs": [
        "ENST00000646512.1:n.704G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768916"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 342,
          "endIntronDirection": "+",
          "endIntronOffset": 3465,
          "referenceAllele": "G",
          "start": 342,
          "startIntronDirection": "+",
          "startIntronOffset": 3464
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004624",
      "geneNCBI_id": 2937,
      "geneSymbol": "GSS",
      "hgvs": [
        "ENST00000646735.1:c.275+3465G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493763.1:n.275+3465G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769040"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 427,
          "referenceAllele": "G",
          "start": 426
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004624",
      "geneNCBI_id": 2937,
      "geneSymbol": "GSS",
      "hgvs": [
        "ENST00000646766.1:c.*121G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494333.1:n.*121G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769055"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 579,
          "referenceAllele": "G",
          "start": 578
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004624",
      "geneNCBI_id": 2937,
      "geneSymbol": "GSS",
      "hgvs": [
        "ENST00000651619.1:c.491G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498303.1:p.Arg164Leu",
        "hgvsWellDefined": "ENSP00000498303.1:p.Arg164Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771774",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000651619.1:c.491G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000178.4:c.491G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000498303.1:p.Arg164Leu"
          },
          "RefSeq": {
            "hgvs": "NP_000169.1:p.Arg164Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 590,
          "referenceAllele": "G",
          "start": 589
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004624",
      "geneNCBI_id": 2937,
      "geneSymbol": "GSS",
      "hgvs": [
        "ENST00000216951.6:c.491G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000216951.2:p.Arg164Leu",
        "hgvsWellDefined": "ENSP00000216951.2:p.Arg164Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248054"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 275,
          "endIntronDirection": "+",
          "endIntronOffset": 3465,
          "referenceAllele": "G",
          "start": 275,
          "startIntronDirection": "+",
          "startIntronOffset": 3464
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004624",
      "geneNCBI_id": 2937,
      "geneSymbol": "GSS",
      "hgvs": [
        "ENST00000451957.2:c.275+3465G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000407517.2:n.275+3465G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS301401"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3087702149",
      "coordinates": [
        {
          "allele": "T",
          "end": 571,
          "referenceAllele": "G",
          "start": 570
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004624",
      "geneNCBI_id": 2937,
      "geneSymbol": "GSS",
      "hgvs": [
        "NM_000178.2:c.491G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000169.1:p.Arg164Leu",
        "hgvsWellDefined": "NP_000169.1:p.Arg164Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006240"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1482,
          "referenceAllele": "G",
          "start": 1481
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004624",
      "geneNCBI_id": 2937,
      "geneSymbol": "GSS",
      "hgvs": [
        "XM_005260406.3:c.491G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005260463.1:p.Arg164Leu",
        "hgvsWellDefined": "XP_005260463.1:p.Arg164Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062772"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 622,
          "referenceAllele": "G",
          "start": 621
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004624",
      "geneNCBI_id": 2937,
      "geneSymbol": "GSS",
      "hgvs": [
        "XM_011528796.1:c.491G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527098.1:p.Arg164Leu",
        "hgvsWellDefined": "XP_011527098.1:p.Arg164Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095867"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3087702149",
      "coordinates": [
        {
          "allele": "T",
          "end": 579,
          "referenceAllele": "G",
          "start": 578
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004624",
      "geneNCBI_id": 2937,
      "geneSymbol": "GSS",
      "hgvs": [
        "NM_000178.4:c.491G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000169.1:p.Arg164Leu",
        "hgvsWellDefined": "NP_000169.1:p.Arg164Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510760",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000651619.1:c.491G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000178.4:c.491G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000498303.1:p.Arg164Leu"
          },
          "RefSeq": {
            "hgvs": "NP_000169.1:p.Arg164Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 657,
          "referenceAllele": "G",
          "start": 656
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004624",
      "geneNCBI_id": 2937,
      "geneSymbol": "GSS",
      "hgvs": [
        "NM_001322494.1:c.491G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001309423.1:p.Arg164Leu",
        "hgvsWellDefined": "NP_001309423.1:p.Arg164Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515063"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3249378059",
      "coordinates": [
        {
          "allele": "T",
          "end": 1419,
          "referenceAllele": "G",
          "start": 1418
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004624",
      "geneNCBI_id": 2937,
      "geneSymbol": "GSS",
      "hgvs": [
        "NM_001322495.1:c.491G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001309424.1:p.Arg164Leu",
        "hgvsWellDefined": "NP_001309424.1:p.Arg164Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515064"
    }
  ],
  "type": "nucleotide"
}