{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA354908495",
  "communityStandardTitle": [
    "NM_004130.4(GYG1):c.750G>A (p.Trp250Ter)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.148741981G>A?assembly=hg19",
        "id": "chr3:g.148741981G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.149024194G>A?assembly=hg38",
        "id": "chr3:g.149024194G>A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 149024194,
          "referenceAllele": "G",
          "start": 149024193
        }
      ],
      "hgvs": [
        "NC_000003.12:g.149024194G>A",
        "CM000665.2:g.149024194G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 148741981,
          "referenceAllele": "G",
          "start": 148741980
        }
      ],
      "hgvs": [
        "NC_000003.11:g.148741981G>A",
        "CM000665.1:g.148741981G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 150224671,
          "referenceAllele": "G",
          "start": 150224670
        }
      ],
      "hgvs": [
        "NC_000003.10:g.150224671G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 37787,
          "referenceAllele": "G",
          "start": 37786
        }
      ],
      "hgvs": [
        "NG_027677.1:g.37787G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003900"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 851,
          "referenceAllele": "G",
          "start": 850
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004699",
      "geneNCBI_id": 2992,
      "geneSymbol": "GYG1",
      "hgvs": [
        "ENST00000345003.9:c.750G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000340736.4:p.Trp250Ter",
        "hgvsWellDefined": "ENSP00000340736.4:p.Trp250_Gln350delinsAsnIlePheThrThrAsnValLeuProLeuLeuGlnGlnPheGlyLeuValLysAspThrCysSerTyrValAsnValLeuSerAspLeuValTyrThrLeuAlaPheSerCysGlyPheCysArgLysGluAspValSerGlyAlaIleSerHisLeuSerLeuGlyGluIleProAlaMetAlaGlnProPheValSerSerGluGluArgLysGluArgTrpGluGlnGlyGlnAlaAspTyrMetGlyAlaAspSerPheAspAsnIleLysArgLysLeuAspThrTyrLeuGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748267",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000345003.9:c.750G>A"
          },
          "RefSeq": {
            "hgvs": "NM_004130.4:c.750G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000340736.4:p.Trp250Ter"
          },
          "RefSeq": {
            "hgvs": "NP_004121.2:p.Trp250Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 939,
          "referenceAllele": "G",
          "start": 938
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004699",
      "geneNCBI_id": 2992,
      "geneSymbol": "GYG1",
      "hgvs": [
        "ENST00000296048.10:c.750G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000296048.6:p.Trp250Ter",
        "hgvsWellDefined": "ENSP00000296048.6:p.Trp250_Gln333delinsAsnIlePheThrThrAsnValLeuProLeuLeuGlnGlnPheGlyLeuValLysAspThrCysSerTyrValAsnValGluAspValSerGlyAlaIleSerHisLeuSerLeuGlyGluIleProAlaMetAlaGlnProPheValSerSerGluGluArgLysGluArgTrpGluGlnGlyGlnAlaAspTyrMetGlyAlaAspSerPheAspAsnIleLysArgLysLeuAspThrTyrLeuGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254225"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1050,
          "referenceAllele": "G",
          "start": 1049
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004699",
      "geneNCBI_id": 2992,
      "geneSymbol": "GYG1",
      "hgvs": [
        "ENST00000345003.8:c.750G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000340736.4:p.Trp250Ter",
        "hgvsWellDefined": "ENSP00000340736.4:p.Trp250_Gln350delinsAsnIlePheThrThrAsnValLeuProLeuLeuGlnGlnPheGlyLeuValLysAspThrCysSerTyrValAsnValLeuSerAspLeuValTyrThrLeuAlaPheSerCysGlyPheCysArgLysGluAspValSerGlyAlaIleSerHisLeuSerLeuGlyGluIleProAlaMetAlaGlnProPheValSerSerGluGluArgLysGluArgTrpGluGlnGlyGlnAlaAspTyrMetGlyAlaAspSerPheAspAsnIleLysArgLysLeuAspThrTyrLeuGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262110"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 807,
          "referenceAllele": "G",
          "start": 806
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004699",
      "geneNCBI_id": 2992,
      "geneSymbol": "GYG1",
      "hgvs": [
        "ENST00000461191.1:c.738G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420247.1:p.Trp246Ter",
        "hgvsWellDefined": "ENSP00000420247.1:p.Trp246_Thr266del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS305763"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 664,
          "referenceAllele": "G",
          "start": 663
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004699",
      "geneNCBI_id": 2992,
      "geneSymbol": "GYG1",
      "hgvs": [
        "ENST00000469873.1:n.664G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS312446"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 224,
          "endIntronDirection": "-",
          "endIntronOffset": 2565,
          "referenceAllele": "G",
          "start": 224,
          "startIntronDirection": "-",
          "startIntronOffset": 2566
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004699",
      "geneNCBI_id": 2992,
      "geneSymbol": "GYG1",
      "hgvs": [
        "ENST00000479119.1:n.225-2566G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS319574"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 740,
          "referenceAllele": "G",
          "start": 739
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004699",
      "geneNCBI_id": 2992,
      "geneSymbol": "GYG1",
      "hgvs": [
        "ENST00000483267.5:c.*29G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419499.1:n.*29G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS322776"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 691,
          "endIntronDirection": "-",
          "endIntronOffset": 2565,
          "referenceAllele": "G",
          "start": 691,
          "startIntronDirection": "-",
          "startIntronOffset": 2566
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004699",
      "geneNCBI_id": 2992,
      "geneSymbol": "GYG1",
      "hgvs": [
        "ENST00000484197.5:c.609-2566G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420683.1:n.609-2566G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS323505"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 844,
          "referenceAllele": "G",
          "start": 843
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004699",
      "geneNCBI_id": 2992,
      "geneSymbol": "GYG1",
      "hgvs": [
        "ENST00000627418.2:c.*29G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486061.1:n.*29G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS406888"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826142762",
      "coordinates": [
        {
          "allele": "A",
          "end": 983,
          "referenceAllele": "G",
          "start": 982
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004699",
      "geneNCBI_id": 2992,
      "geneSymbol": "GYG1",
      "hgvs": [
        "NM_001184720.1:c.750G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171649.1:p.Trp250Ter",
        "hgvsWellDefined": "NP_001171649.1:p.Trp250_Gln333delinsAsnIlePheThrThrAsnValLeuProLeuLeuGlnGlnPheGlyLeuValLysAspThrCysSerTyrValAsnValGluAspValSerGlyAlaIleSerHisLeuSerLeuGlyGluIleProAlaMetAlaGlnProPheValSerSerGluGluArgLysGluArgTrpGluGlnGlyGlnAlaAspTyrMetGlyAlaAspSerPheAspAsnIleLysArgLysLeuAspThrTyrLeuGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015929"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 841,
          "endIntronDirection": "-",
          "endIntronOffset": 2565,
          "referenceAllele": "G",
          "start": 841,
          "startIntronDirection": "-",
          "startIntronOffset": 2566
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004699",
      "geneNCBI_id": 2992,
      "geneSymbol": "GYG1",
      "hgvs": [
        "NM_001184721.1:c.609-2566G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171650.1:n.609-2566G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015930"
    },
    {
      "@id": "http://reg.genome.network/allele/PA175131",
      "coordinates": [
        {
          "allele": "A",
          "end": 983,
          "referenceAllele": "G",
          "start": 982
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004699",
      "geneNCBI_id": 2992,
      "geneSymbol": "GYG1",
      "hgvs": [
        "NM_004130.3:c.750G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004121.2:p.Trp250Ter",
        "hgvsWellDefined": "NP_004121.2:p.Trp250_Gln350delinsAsnIlePheThrThrAsnValLeuProLeuLeuGlnGlnPheGlyLeuValLysAspThrCysSerTyrValAsnValLeuSerAspLeuValTyrThrLeuAlaPheSerCysGlyPheCysArgLysGluAspValSerGlyAlaIleSerHisLeuSerLeuGlyGluIleProAlaMetAlaGlnProPheValSerSerGluGluArgLysGluArgTrpGluGlnGlyGlnAlaAspTyrMetGlyAlaAspSerPheAspAsnIleLysArgLysLeuAspThrTyrLeuGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029318"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 740,
          "referenceAllele": "G",
          "start": 739
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004699",
      "geneNCBI_id": 2992,
      "geneSymbol": "GYG1",
      "hgvs": [
        "XM_017006275.1:c.573G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016861764.1:p.Trp191Ter",
        "hgvsWellDefined": "XP_016861764.1:p.Trp191_Gln274delinsAsnIlePheThrThrAsnValLeuProLeuLeuGlnGlnPheGlyLeuValLysAspThrCysSerTyrValAsnValGluAspValSerGlyAlaIleSerHisLeuSerLeuGlyGluIleProAlaMetAlaGlnProPheValSerSerGluGluArgLysGluArgTrpGluGlnGlyGlnAlaAspTyrMetGlyAlaAspSerPheAspAsnIleLysArgLysLeuAspThrTyrLeuGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS561346"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1255,
          "referenceAllele": "G",
          "start": 1254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004699",
      "geneNCBI_id": 2992,
      "geneSymbol": "GYG1",
      "hgvs": [
        "XM_017006276.1:c.288G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016861765.1:p.Trp96Ter",
        "hgvsWellDefined": "XP_016861765.1:p.Trp96_Gln179delinsAsnIlePheThrThrAsnValLeuProLeuLeuGlnGlnPheGlyLeuValLysAspThrCysSerTyrValAsnValGluAspValSerGlyAlaIleSerHisLeuSerLeuGlyGluIleProAlaMetAlaGlnProPheValSerSerGluGluArgLysGluArgTrpGluGlnGlyGlnAlaAspTyrMetGlyAlaAspSerPheAspAsnIleLysArgLysLeuAspThrTyrLeuGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS561347"
    },
    {
      "@id": "http://reg.genome.network/allele/PA175131",
      "coordinates": [
        {
          "allele": "A",
          "end": 851,
          "referenceAllele": "G",
          "start": 850
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004699",
      "geneNCBI_id": 2992,
      "geneSymbol": "GYG1",
      "hgvs": [
        "NM_004130.4:c.750G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004121.2:p.Trp250Ter",
        "hgvsWellDefined": "NP_004121.2:p.Trp250_Gln350delinsAsnIlePheThrThrAsnValLeuProLeuLeuGlnGlnPheGlyLeuValLysAspThrCysSerTyrValAsnValLeuSerAspLeuValTyrThrLeuAlaPheSerCysGlyPheCysArgLysGluAspValSerGlyAlaIleSerHisLeuSerLeuGlyGluIleProAlaMetAlaGlnProPheValSerSerGluGluArgLysGluArgTrpGluGlnGlyGlnAlaAspTyrMetGlyAlaAspSerPheAspAsnIleLysArgLysLeuAspThrTyrLeuGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696056",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000345003.9:c.750G>A"
          },
          "RefSeq": {
            "hgvs": "NM_004130.4:c.750G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000340736.4:p.Trp250Ter"
          },
          "RefSeq": {
            "hgvs": "NP_004121.2:p.Trp250Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826142762",
      "coordinates": [
        {
          "allele": "A",
          "end": 851,
          "referenceAllele": "G",
          "start": 850
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004699",
      "geneNCBI_id": 2992,
      "geneSymbol": "GYG1",
      "hgvs": [
        "NM_001184720.2:c.750G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171649.1:p.Trp250Ter",
        "hgvsWellDefined": "NP_001171649.1:p.Trp250_Gln333delinsAsnIlePheThrThrAsnValLeuProLeuLeuGlnGlnPheGlyLeuValLysAspThrCysSerTyrValAsnValGluAspValSerGlyAlaIleSerHisLeuSerLeuGlyGluIleProAlaMetAlaGlnProPheValSerSerGluGluArgLysGluArgTrpGluGlnGlyGlnAlaAspTyrMetGlyAlaAspSerPheAspAsnIleLysArgLysLeuAspThrTyrLeuGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713597"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 709,
          "endIntronDirection": "-",
          "endIntronOffset": 2565,
          "referenceAllele": "G",
          "start": 709,
          "startIntronDirection": "-",
          "startIntronOffset": 2566
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004699",
      "geneNCBI_id": 2992,
      "geneSymbol": "GYG1",
      "hgvs": [
        "NM_001184721.2:c.609-2566G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171650.1:n.609-2566G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713598"
    }
  ],
  "type": "nucleotide"
}