{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA396854908",
  "communityStandardTitle": [
    "NM_022041.4(GAN):c.118G>T (p.Glu40Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3037494[alleleid]",
        "alleleId": 3037494,
        "preferredName": "NM_022041.4(GAN):c.118G>T (p.Glu40Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2871112",
        "RCV": [
          "RCV003611153"
        ],
        "variationId": 2871112
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.81348836G>T?assembly=hg19",
        "id": "chr16:g.81348836G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.81315231G>T?assembly=hg38",
        "id": "chr16:g.81315231G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2507669361",
        "rs": 2507669361
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-81315231-G-T?dataset=gnomad_r4",
        "id": "16-81315231-G-T",
        "variant": "16:81315231 G / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 81315231,
          "referenceAllele": "G",
          "start": 81315230
        }
      ],
      "hgvs": [
        "NC_000016.10:g.81315231G>T",
        "CM000678.2:g.81315231G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 81348836,
          "referenceAllele": "G",
          "start": 81348835
        }
      ],
      "hgvs": [
        "NC_000016.9:g.81348836G>T",
        "CM000678.1:g.81348836G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 79906337,
          "referenceAllele": "G",
          "start": 79906336
        }
      ],
      "hgvs": [
        "NC_000016.8:g.79906337G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5266,
          "referenceAllele": "G",
          "start": 5265
        }
      ],
      "hgvs": [
        "NG_009007.1:g.5266G>T",
        "LRG_242:g.5266G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001375"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 288,
          "referenceAllele": "G",
          "start": 287
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004137",
      "geneNCBI_id": 8139,
      "geneSymbol": "GAN",
      "hgvs": [
        "ENST00000648349.2:c.118G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498114.1:p.Glu40Ter",
        "hgvsWellDefined": "ENSP00000498114.1:p.Glu40_Gly58delinsIleProValGlnLysAsnIleLeuAlaAlaAlaSerProTyrIleArgSerGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769926"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 270,
          "referenceAllele": "G",
          "start": 269
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004137",
      "geneNCBI_id": 8139,
      "geneSymbol": "GAN",
      "hgvs": [
        "ENST00000648994.2:c.118G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497351.1:p.Glu40Ter",
        "hgvsWellDefined": "ENSP00000497351.1:p.Glu40_Pro597delinsIleProValGlnLysAsnIleLeuAlaAlaAlaSerProTyrIleArgThrLysLeuAsnTyrAsnProProLysAspAspGlySerThrTyrLysIleGluLeuGluGlyIleSerValMetValMetArgGluIleLeuAspTyrIlePheSerGlyGlnIleArgLeuAsnGluAspThrIleGlnAspValValGlnAlaAlaAspLeuLeuLeuLeuThrAspLeuLysThrLeuCysCysGluPheLeuGluGlyCysIleAlaAlaGluAsnCysIleGlyIleArgAspPheAlaLeuHisTyrCysLeuHisHisValHisTyrLeuAlaThrGluTyrLeuGluThrHisPheArgAspValSerSerThrGluGluPheLeuGluLeuSerProGlnLysLeuLysGluValIleSerLeuGluLysLeuAsnValGlyAsnGluArgTyrValPheGluAlaValIleArgTrpIleAlaHisAspThrGluIleArgLysValHisMetLysAspValMetSerAlaLeuTrpValSerGlyLeuAspSerSerTyrLeuArgGluGlnMetLeuAsnGluProLeuValArgGluIleValLysGluCysSerAsnIleProLeuSerGlnProGlnGlnGlyGluAlaMetLeuAlaAsnPheLysProArgGlyTyrSerGluCysIleValThrValGlyGlyGluGluArgValSerArgLysProThrAlaAlaMetArgCysMetCysProLeuTyrAspProAsnArgGlnLeuTrpIleGluLeuAlaProLeuSerMetProArgIleAsnHisGlyValLeuSerAlaGluGlyPheLeuPheValPheGlyGlyGlnAspGluAsnLysGlnThrLeuSerSerGlyGluLysTyrAspProAspAlaAsnThrTrpThrAlaLeuProProMetAsnGluAlaArgHisAsnPheGlyIleValGluIleAspGlyMetLeuTyrIleLeuGlyGlyGluAspGlyGluLysGluLeuIleSerMetGluCysTyrAspIleTyrSerLysThrTrpThrLysGlnProAspLeuThrMetValArgLysIleGlyCysTyrAlaAlaMetLysLysLysIleTyrAlaMetGlyGlyGlySerTyrGlyLysLeuPheGluSerValGluCysTyrAspProArgThrGlnGlnTrpThrAlaIleCysProLeuLysGluArgArgPheGlyAlaValAlaCysGlyValAlaMetGluLeuTyrValPheGlyGlyValArgSerArgGluAspAlaGlnGlySerGluMetValThrCysLysSerGluPheTyrHisAspGluPheLysArgTrpIleTyrLeuAsnAspGlnAsnLeuCysIleProAlaSerSerSerPheValTyrGlyAlaValProIleGlyAlaSerIleTyrValIleGlyAspLeuAspThrGlyThrAsnTyrAspTyrValArgGluPheLysArgSerThrGlyThrTrpHisHisThrLysProLeuLeuProSerAspLeuArgArgThrGlyCysAlaAlaLeuArgIleAlaAsnCysLysLeuPheArgLeuGlnLeuGlnGlnGlyLeuPheArgIleArgValHisSerProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770299",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000648994.2:c.118G>T"
          },
          "RefSeq": {
            "hgvs": "NM_022041.4:c.118G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000497351.1:p.Glu40Ter"
          },
          "RefSeq": {
            "hgvs": "NP_071324.1:p.Glu40Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 118,
          "referenceAllele": "G",
          "start": 117
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004137",
      "geneNCBI_id": 8139,
      "geneSymbol": "GAN",
      "hgvs": [
        "ENST00000650388.1:c.118G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498081.1:p.Glu40Ter",
        "hgvsWellDefined": "ENSP00000498081.1:p.Glu40_Thr58delinsIleProValGlnLysAsnIleLeuAlaAlaAlaSerProTyrIleArgSerThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771092"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 243,
          "referenceAllele": "G",
          "start": 242
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004137",
      "geneNCBI_id": 8139,
      "geneSymbol": "GAN",
      "hgvs": [
        "ENST00000674788.1:n.243G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS774702"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 280,
          "referenceAllele": "G",
          "start": 279
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004137",
      "geneNCBI_id": 8139,
      "geneSymbol": "GAN",
      "hgvs": [
        "ENST00000568107.2:c.118G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000476795.1:p.Glu40Ter",
        "hgvsWellDefined": "ENSP00000476795.1:p.Glu40_Pro597delinsIleProValGlnLysAsnIleLeuAlaAlaAlaSerProTyrIleArgThrLysLeuAsnTyrAsnProProLysAspAspGlySerThrTyrLysIleGluLeuGluGlyIleSerValMetValMetArgGluIleLeuAspTyrIlePheSerGlyGlnIleArgLeuAsnGluAspThrIleGlnAspValValGlnAlaAlaAspLeuLeuLeuLeuThrAspLeuLysThrLeuCysCysGluPheLeuGluGlyCysIleAlaAlaGluAsnCysIleGlyIleArgAspPheAlaLeuHisTyrCysLeuHisHisValHisTyrLeuAlaThrGluTyrLeuGluThrHisPheArgAspValSerSerThrGluGluPheLeuGluLeuSerProGlnLysLeuLysGluValIleSerLeuGluLysLeuAsnValGlyAsnGluArgTyrValPheGluAlaValIleArgTrpIleAlaHisAspThrGluIleArgLysValHisMetLysAspValMetSerAlaLeuTrpValSerGlyLeuAspSerSerTyrLeuArgGluGlnMetLeuAsnGluProLeuValArgGluIleValLysGluCysSerAsnIleProLeuSerGlnProGlnGlnGlyGluAlaMetLeuAlaAsnPheLysProArgGlyTyrSerGluCysIleValThrValGlyGlyGluGluArgValSerArgLysProThrAlaAlaMetArgCysMetCysProLeuTyrAspProAsnArgGlnLeuTrpIleGluLeuAlaProLeuSerMetProArgIleAsnHisGlyValLeuSerAlaGluGlyPheLeuPheValPheGlyGlyGlnAspGluAsnLysGlnThrLeuSerSerGlyGluLysTyrAspProAspAlaAsnThrTrpThrAlaLeuProProMetAsnGluAlaArgHisAsnPheGlyIleValGluIleAspGlyMetLeuTyrIleLeuGlyGlyGluAspGlyGluLysGluLeuIleSerMetGluCysTyrAspIleTyrSerLysThrTrpThrLysGlnProAspLeuThrMetValArgLysIleGlyCysTyrAlaAlaMetLysLysLysIleTyrAlaMetGlyGlyGlySerTyrGlyLysLeuPheGluSerValGluCysTyrAspProArgThrGlnGlnTrpThrAlaIleCysProLeuLysGluArgArgPheGlyAlaValAlaCysGlyValAlaMetGluLeuTyrValPheGlyGlyValArgSerArgGluAspAlaGlnGlySerGluMetValThrCysLysSerGluPheTyrHisAspGluPheLysArgTrpIleTyrLeuAsnAspGlnAsnLeuCysIleProAlaSerSerSerPheValTyrGlyAlaValProIleGlyAlaSerIleTyrValIleGlyAspLeuAspThrGlyThrAsnTyrAspTyrValArgGluPheLysArgSerThrGlyThrTrpHisHisThrLysProLeuLeuProSerAspLeuArgArgThrGlyCysAlaAlaLeuArgIleAlaAsnCysLysLeuPheArgLeuGlnLeuGlnGlnGlyLeuPheArgIleArgValHisSerProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS380557"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741981296",
      "coordinates": [
        {
          "allele": "T",
          "end": 266,
          "referenceAllele": "G",
          "start": 265
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004137",
      "geneNCBI_id": 8139,
      "geneSymbol": "GAN",
      "hgvs": [
        "NM_022041.3:c.118G>T",
        "LRG_242t1:c.118G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_071324.1:p.Glu40Ter",
        "hgvsWellDefined": "NP_071324.1:p.Glu40_Pro597delinsIleProValGlnLysAsnIleLeuAlaAlaAlaSerProTyrIleArgThrLysLeuAsnTyrAsnProProLysAspAspGlySerThrTyrLysIleGluLeuGluGlyIleSerValMetValMetArgGluIleLeuAspTyrIlePheSerGlyGlnIleArgLeuAsnGluAspThrIleGlnAspValValGlnAlaAlaAspLeuLeuLeuLeuThrAspLeuLysThrLeuCysCysGluPheLeuGluGlyCysIleAlaAlaGluAsnCysIleGlyIleArgAspPheAlaLeuHisTyrCysLeuHisHisValHisTyrLeuAlaThrGluTyrLeuGluThrHisPheArgAspValSerSerThrGluGluPheLeuGluLeuSerProGlnLysLeuLysGluValIleSerLeuGluLysLeuAsnValGlyAsnGluArgTyrValPheGluAlaValIleArgTrpIleAlaHisAspThrGluIleArgLysValHisMetLysAspValMetSerAlaLeuTrpValSerGlyLeuAspSerSerTyrLeuArgGluGlnMetLeuAsnGluProLeuValArgGluIleValLysGluCysSerAsnIleProLeuSerGlnProGlnGlnGlyGluAlaMetLeuAlaAsnPheLysProArgGlyTyrSerGluCysIleValThrValGlyGlyGluGluArgValSerArgLysProThrAlaAlaMetArgCysMetCysProLeuTyrAspProAsnArgGlnLeuTrpIleGluLeuAlaProLeuSerMetProArgIleAsnHisGlyValLeuSerAlaGluGlyPheLeuPheValPheGlyGlyGlnAspGluAsnLysGlnThrLeuSerSerGlyGluLysTyrAspProAspAlaAsnThrTrpThrAlaLeuProProMetAsnGluAlaArgHisAsnPheGlyIleValGluIleAspGlyMetLeuTyrIleLeuGlyGlyGluAspGlyGluLysGluLeuIleSerMetGluCysTyrAspIleTyrSerLysThrTrpThrLysGlnProAspLeuThrMetValArgLysIleGlyCysTyrAlaAlaMetLysLysLysIleTyrAlaMetGlyGlyGlySerTyrGlyLysLeuPheGluSerValGluCysTyrAspProArgThrGlnGlnTrpThrAlaIleCysProLeuLysGluArgArgPheGlyAlaValAlaCysGlyValAlaMetGluLeuTyrValPheGlyGlyValArgSerArgGluAspAlaGlnGlySerGluMetValThrCysLysSerGluPheTyrHisAspGluPheLysArgTrpIleTyrLeuAsnAspGlnAsnLeuCysIleProAlaSerSerSerPheValTyrGlyAlaValProIleGlyAlaSerIleTyrValIleGlyAspLeuAspThrGlyThrAsnTyrAspTyrValArgGluPheLysArgSerThrGlyThrTrpHisHisThrLysProLeuLeuProSerAspLeuArgArgThrGlyCysAlaAlaLeuArgIleAlaAsnCysLysLeuPheArgLeuGlnLeuGlnGlnGlyLeuPheArgIleArgValHisSerProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037148"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 291,
          "referenceAllele": "G",
          "start": 290
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004137",
      "geneNCBI_id": 8139,
      "geneSymbol": "GAN",
      "hgvs": [
        "XM_017023734.1:c.-407G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879223.1:n.-407G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574428"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 270,
          "referenceAllele": "G",
          "start": 269
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004137",
      "geneNCBI_id": 8139,
      "geneSymbol": "GAN",
      "hgvs": [
        "NM_001377486.1:c.-407G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001364415.1:n.-407G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695248"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741981296",
      "coordinates": [
        {
          "allele": "T",
          "end": 270,
          "referenceAllele": "G",
          "start": 269
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004137",
      "geneNCBI_id": 8139,
      "geneSymbol": "GAN",
      "hgvs": [
        "NM_022041.4:c.118G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_071324.1:p.Glu40Ter",
        "hgvsWellDefined": "NP_071324.1:p.Glu40_Pro597delinsIleProValGlnLysAsnIleLeuAlaAlaAlaSerProTyrIleArgThrLysLeuAsnTyrAsnProProLysAspAspGlySerThrTyrLysIleGluLeuGluGlyIleSerValMetValMetArgGluIleLeuAspTyrIlePheSerGlyGlnIleArgLeuAsnGluAspThrIleGlnAspValValGlnAlaAlaAspLeuLeuLeuLeuThrAspLeuLysThrLeuCysCysGluPheLeuGluGlyCysIleAlaAlaGluAsnCysIleGlyIleArgAspPheAlaLeuHisTyrCysLeuHisHisValHisTyrLeuAlaThrGluTyrLeuGluThrHisPheArgAspValSerSerThrGluGluPheLeuGluLeuSerProGlnLysLeuLysGluValIleSerLeuGluLysLeuAsnValGlyAsnGluArgTyrValPheGluAlaValIleArgTrpIleAlaHisAspThrGluIleArgLysValHisMetLysAspValMetSerAlaLeuTrpValSerGlyLeuAspSerSerTyrLeuArgGluGlnMetLeuAsnGluProLeuValArgGluIleValLysGluCysSerAsnIleProLeuSerGlnProGlnGlnGlyGluAlaMetLeuAlaAsnPheLysProArgGlyTyrSerGluCysIleValThrValGlyGlyGluGluArgValSerArgLysProThrAlaAlaMetArgCysMetCysProLeuTyrAspProAsnArgGlnLeuTrpIleGluLeuAlaProLeuSerMetProArgIleAsnHisGlyValLeuSerAlaGluGlyPheLeuPheValPheGlyGlyGlnAspGluAsnLysGlnThrLeuSerSerGlyGluLysTyrAspProAspAlaAsnThrTrpThrAlaLeuProProMetAsnGluAlaArgHisAsnPheGlyIleValGluIleAspGlyMetLeuTyrIleLeuGlyGlyGluAspGlyGluLysGluLeuIleSerMetGluCysTyrAspIleTyrSerLysThrTrpThrLysGlnProAspLeuThrMetValArgLysIleGlyCysTyrAlaAlaMetLysLysLysIleTyrAlaMetGlyGlyGlySerTyrGlyLysLeuPheGluSerValGluCysTyrAspProArgThrGlnGlnTrpThrAlaIleCysProLeuLysGluArgArgPheGlyAlaValAlaCysGlyValAlaMetGluLeuTyrValPheGlyGlyValArgSerArgGluAspAlaGlnGlySerGluMetValThrCysLysSerGluPheTyrHisAspGluPheLysArgTrpIleTyrLeuAsnAspGlnAsnLeuCysIleProAlaSerSerSerPheValTyrGlyAlaValProIleGlyAlaSerIleTyrValIleGlyAspLeuAspThrGlyThrAsnTyrAspTyrValArgGluPheLysArgSerThrGlyThrTrpHisHisThrLysProLeuLeuProSerAspLeuArgArgThrGlyCysAlaAlaLeuArgIleAlaAsnCysLysLeuPheArgLeuGlnLeuGlnGlnGlyLeuPheArgIleArgValHisSerProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698486",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000648994.2:c.118G>T"
          },
          "RefSeq": {
            "hgvs": "NM_022041.4:c.118G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000497351.1:p.Glu40Ter"
          },
          "RefSeq": {
            "hgvs": "NP_071324.1:p.Glu40Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}