{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA119337",
  "communityStandardTitle": [
    "NM_000436.4(OXCT1):c.848C>G (p.Ser283Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=23202[alleleid]",
        "alleleId": 23202,
        "preferredName": "NM_000436.4(OXCT1):c.848C>G (p.Ser283Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/8163",
        "RCV": [
          "RCV000008641"
        ],
        "variationId": 8163
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/5-41805776-G-C",
        "id": "5-41805776-G-C",
        "variant": "5:41805776 G / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.41805776G>C?assembly=hg19",
        "id": "chr5:g.41805776G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.41805674G>C?assembly=hg38",
        "id": "chr5:g.41805674G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121909299",
        "rs": 121909299
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-41805776-G-C?dataset=gnomad_r2_1",
        "id": "5-41805776-G-C",
        "variant": "5:41805776 G / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-41805674-G-C?dataset=gnomad_r4",
        "id": "5-41805674-G-C",
        "variant": "5:41805674 G / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "C",
          "end": 41805674,
          "referenceAllele": "G",
          "start": 41805673
        }
      ],
      "hgvs": [
        "NC_000005.10:g.41805674G>C",
        "CM000667.2:g.41805674G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "C",
          "end": 41805776,
          "referenceAllele": "G",
          "start": 41805775
        }
      ],
      "hgvs": [
        "NC_000005.9:g.41805776G>C",
        "CM000667.1:g.41805776G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "C",
          "end": 41841533,
          "referenceAllele": "G",
          "start": 41841532
        }
      ],
      "hgvs": [
        "NC_000005.8:g.41841533G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 70016,
          "referenceAllele": "C",
          "start": 70015
        }
      ],
      "hgvs": [
        "NG_011823.1:g.70016C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002005"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 915,
          "referenceAllele": "C",
          "start": 914
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008527",
      "geneNCBI_id": 5019,
      "geneSymbol": "OXCT1",
      "hgvs": [
        "ENST00000196371.10:c.848C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000196371.5:p.Ser283Ter",
        "hgvsWellDefined": "ENSP00000196371.5:p.Ser283_Asn520delinsIleArgLysGluGlyAspGlyGluAlaLysSerAlaLysProGlyAspAspValArgGluArgIleIleLysArgAlaAlaLeuGluPheGluAspGlyMetTyrAlaAsnLeuGlyIleGlyIleProLeuLeuAlaSerAsnPheIleSerProAsnIleThrValHisLeuGlnSerGluAsnGlyValLeuGlyLeuGlyProTyrProArgGlnHisGluAlaAspAlaAspLeuIleAsnAlaGlyLysGluThrValThrIleLeuProGlyAlaSerPhePheSerSerAspGluSerPheAlaMetIleArgGlyGlyHisValAspLeuThrMetLeuGlyAlaMetGlnValSerLysTyrGlyAspLeuAlaAsnTrpMetIleProGlyLysMetValLysGlyMetGlyGlyAlaMetAspLeuValSerSerAlaLysThrLysValValValThrMetGluHisSerAlaLysGlyAsnAlaHisLysIleMetGluLysCysThrLeuProLeuThrGlyLysGlnCysValAsnArgIleIleThrGluLysAlaValPheAspValAspLysLysLysGlyLeuThrLeuIleGluLeuTrpGluGlyLeuThrValAspAspValGlnLysSerThrGlyCysAspPheAlaValSerProLysLeuMetProMetGlnGlnIleAlaAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740121",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000196371.10:c.848C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000436.4:c.848C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000196371.5:p.Ser283Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000427.1:p.Ser283Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1009,
          "referenceAllele": "C",
          "start": 1008
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008527",
      "geneNCBI_id": 5019,
      "geneSymbol": "OXCT1",
      "hgvs": [
        "ENST00000196371.9:c.848C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000196371.5:p.Ser283Ter",
        "hgvsWellDefined": "ENSP00000196371.5:p.Ser283_Asn520delinsIleArgLysGluGlyAspGlyGluAlaLysSerAlaLysProGlyAspAspValArgGluArgIleIleLysArgAlaAlaLeuGluPheGluAspGlyMetTyrAlaAsnLeuGlyIleGlyIleProLeuLeuAlaSerAsnPheIleSerProAsnIleThrValHisLeuGlnSerGluAsnGlyValLeuGlyLeuGlyProTyrProArgGlnHisGluAlaAspAlaAspLeuIleAsnAlaGlyLysGluThrValThrIleLeuProGlyAlaSerPhePheSerSerAspGluSerPheAlaMetIleArgGlyGlyHisValAspLeuThrMetLeuGlyAlaMetGlnValSerLysTyrGlyAspLeuAlaAsnTrpMetIleProGlyLysMetValLysGlyMetGlyGlyAlaMetAspLeuValSerSerAlaLysThrLysValValValThrMetGluHisSerAlaLysGlyAsnAlaHisLysIleMetGluLysCysThrLeuProLeuThrGlyLysGlnCysValAsnArgIleIleThrGluLysAlaValPheAspValAspLysLysLysGlyLeuThrLeuIleGluLeuTrpGluGlyLeuThrValAspAspValGlnLysSerThrGlyCysAspPheAlaValSerProLysLeuMetProMetGlnGlnIleAlaAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247747"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 367,
          "referenceAllele": "C",
          "start": 366
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008527",
      "geneNCBI_id": 5019,
      "geneSymbol": "OXCT1",
      "hgvs": [
        "ENST00000509987.1:c.290C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000425348.1:p.Ser97Ter",
        "hgvsWellDefined": "ENSP00000425348.1:p.Ser97_Asn334delinsIleArgLysGluGlyAspGlyGluAlaLysSerAlaLysProGlyAspAspValArgGluArgIleIleLysArgAlaAlaLeuGluPheGluAspGlyMetTyrAlaAsnLeuGlyIleGlyIleProLeuLeuAlaSerAsnPheIleSerProAsnIleThrValHisLeuGlnSerGluAsnGlyValLeuGlyLeuGlyProTyrProArgGlnHisGluAlaAspAlaAspLeuIleAsnAlaGlyLysGluThrValThrIleLeuProGlyAlaSerPhePheSerSerAspGluSerPheAlaMetIleArgGlyGlyHisValAspLeuThrMetLeuGlyAlaMetGlnValSerLysTyrGlyAspLeuAlaAsnTrpMetIleProGlyLysMetValLysGlyMetGlyGlyAlaMetAspLeuValSerSerAlaLysThrLysValValValThrMetGluHisSerAlaLysGlyAsnAlaHisLysIleMetGluLysCysThrLeuProLeuThrGlyLysGlnCysValAsnArgIleIleThrGluLysAlaValPheAspValAspLysLysLysGlyLeuThrLeuIleGluLeuTrpGluGlyLeuThrValAspAspValGlnLysSerThrGlyCysAspPheAlaValSerProLysLeuMetProMetGlnGlnIleAlaAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS340619"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 144,
          "endIntronDirection": "+",
          "endIntronOffset": 34777,
          "referenceAllele": "C",
          "start": 144,
          "startIntronDirection": "+",
          "startIntronOffset": 34776
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008527",
      "geneNCBI_id": 5019,
      "geneSymbol": "OXCT1",
      "hgvs": [
        "ENST00000514723.1:n.144+34777C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS344142"
    },
    {
      "@id": "http://reg.genome.network/allele/PA119338",
      "coordinates": [
        {
          "allele": "G",
          "end": 1179,
          "referenceAllele": "C",
          "start": 1178
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008527",
      "geneNCBI_id": 5019,
      "geneSymbol": "OXCT1",
      "hgvs": [
        "NM_000436.3:c.848C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000427.1:p.Ser283Ter",
        "hgvsWellDefined": "NP_000427.1:p.Ser283_Asn520delinsIleArgLysGluGlyAspGlyGluAlaLysSerAlaLysProGlyAspAspValArgGluArgIleIleLysArgAlaAlaLeuGluPheGluAspGlyMetTyrAlaAsnLeuGlyIleGlyIleProLeuLeuAlaSerAsnPheIleSerProAsnIleThrValHisLeuGlnSerGluAsnGlyValLeuGlyLeuGlyProTyrProArgGlnHisGluAlaAspAlaAspLeuIleAsnAlaGlyLysGluThrValThrIleLeuProGlyAlaSerPhePheSerSerAspGluSerPheAlaMetIleArgGlyGlyHisValAspLeuThrMetLeuGlyAlaMetGlnValSerLysTyrGlyAspLeuAlaAsnTrpMetIleProGlyLysMetValLysGlyMetGlyGlyAlaMetAspLeuValSerSerAlaLysThrLysValValValThrMetGluHisSerAlaLysGlyAsnAlaHisLysIleMetGluLysCysThrLeuProLeuThrGlyLysGlnCysValAsnArgIleIleThrGluLysAlaValPheAspValAspLysLysLysGlyLeuThrLeuIleGluLeuTrpGluGlyLeuThrValAspAspValGlnLysSerThrGlyCysAspPheAlaValSerProLysLeuMetProMetGlnGlnIleAlaAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006498"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1024,
          "referenceAllele": "C",
          "start": 1023
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008527",
      "geneNCBI_id": 5019,
      "geneSymbol": "OXCT1",
      "hgvs": [
        "XR_427658.2:n.1024C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS117817"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828135951",
      "coordinates": [
        {
          "allele": "G",
          "end": 936,
          "referenceAllele": "C",
          "start": 935
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008527",
      "geneNCBI_id": 5019,
      "geneSymbol": "OXCT1",
      "hgvs": [
        "NM_001364299.1:c.869C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001351228.1:p.Ser290Ter",
        "hgvsWellDefined": "NP_001351228.1:p.Ser290_Asn527delinsIleArgLysGluGlyAspGlyGluAlaLysSerAlaLysProGlyAspAspValArgGluArgIleIleLysArgAlaAlaLeuGluPheGluAspGlyMetTyrAlaAsnLeuGlyIleGlyIleProLeuLeuAlaSerAsnPheIleSerProAsnIleThrValHisLeuGlnSerGluAsnGlyValLeuGlyLeuGlyProTyrProArgGlnHisGluAlaAspAlaAspLeuIleAsnAlaGlyLysGluThrValThrIleLeuProGlyAlaSerPhePheSerSerAspGluSerPheAlaMetIleArgGlyGlyHisValAspLeuThrMetLeuGlyAlaMetGlnValSerLysTyrGlyAspLeuAlaAsnTrpMetIleProGlyLysMetValLysGlyMetGlyGlyAlaMetAspLeuValSerSerAlaLysThrLysValValValThrMetGluHisSerAlaLysGlyAsnAlaHisLysIleMetGluLysCysThrLeuProLeuThrGlyLysGlnCysValAsnArgIleIleThrGluLysAlaValPheAspValAspLysLysLysGlyLeuThrLeuIleGluLeuTrpGluGlyLeuThrValAspAspValGlnLysSerThrGlyCysAspPheAlaValSerProLysLeuMetProMetGlnGlnIleAlaAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523793"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828136034",
      "coordinates": [
        {
          "allele": "G",
          "end": 1551,
          "referenceAllele": "C",
          "start": 1550
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008527",
      "geneNCBI_id": 5019,
      "geneSymbol": "OXCT1",
      "hgvs": [
        "NM_001364300.1:c.869C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001351229.1:p.Ser290Ter",
        "hgvsWellDefined": "NP_001351229.1:p.Ser290_Asn527delinsIleArgLysGluGlyAspGlyGluAlaLysSerAlaLysProGlyAspAspValArgGluArgIleIleLysArgAlaAlaLeuGluPheGluAspGlyMetTyrAlaAsnLeuGlyIleGlyIleProLeuLeuAlaSerAsnPheIleSerProAsnIleThrValHisLeuGlnSerGluAsnGlyValLeuGlyLeuGlyProTyrProArgGlnHisGluAlaAspAlaAspLeuIleAsnAlaGlyLysGluThrValThrIleLeuProGlyAlaSerPhePheSerSerAspGluSerPheAlaMetIleArgGlyGlyHisValAspLeuThrMetLeuGlyAlaMetGlnValSerLysTyrGlyAspLeuAlaAsnTrpMetIleProGlyLysMetValLysGlyMetGlyGlyAlaMetAspLeuValSerSerAlaLysThrLysValValValThrMetGluHisSerAlaLysGlyAsnAlaHisLysIleMetGluLysCysThrLeuProLeuThrGlyLysGlnCysValAsnArgIleIleThrGluLysAlaValPheAspValAspLysLysLysGlyLeuThrLeuIleGluLeuTrpGluGlyLeuThrValAspAspValGlnLysSerThrGlyCysAspPheAlaValSerProLysLeuMetProMetGlnGlnIleAlaAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523794"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828136114",
      "coordinates": [
        {
          "allele": "G",
          "end": 909,
          "referenceAllele": "C",
          "start": 908
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008527",
      "geneNCBI_id": 5019,
      "geneSymbol": "OXCT1",
      "hgvs": [
        "NM_001364301.1:c.842C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001351230.1:p.Ser281Ter",
        "hgvsWellDefined": "NP_001351230.1:p.Ser281_Asn518delinsIleArgLysGluGlyAspGlyGluAlaLysSerAlaLysProGlyAspAspValArgGluArgIleIleLysArgAlaAlaLeuGluPheGluAspGlyMetTyrAlaAsnLeuGlyIleGlyIleProLeuLeuAlaSerAsnPheIleSerProAsnIleThrValHisLeuGlnSerGluAsnGlyValLeuGlyLeuGlyProTyrProArgGlnHisGluAlaAspAlaAspLeuIleAsnAlaGlyLysGluThrValThrIleLeuProGlyAlaSerPhePheSerSerAspGluSerPheAlaMetIleArgGlyGlyHisValAspLeuThrMetLeuGlyAlaMetGlnValSerLysTyrGlyAspLeuAlaAsnTrpMetIleProGlyLysMetValLysGlyMetGlyGlyAlaMetAspLeuValSerSerAlaLysThrLysValValValThrMetGluHisSerAlaLysGlyAsnAlaHisLysIleMetGluLysCysThrLeuProLeuThrGlyLysGlnCysValAsnArgIleIleThrGluLysAlaValPheAspValAspLysLysLysGlyLeuThrLeuIleGluLeuTrpGluGlyLeuThrValAspAspValGlnLysSerThrGlyCysAspPheAlaValSerProLysLeuMetProMetGlnGlnIleAlaAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523795"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828136218",
      "coordinates": [
        {
          "allele": "G",
          "end": 915,
          "referenceAllele": "C",
          "start": 914
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008527",
      "geneNCBI_id": 5019,
      "geneSymbol": "OXCT1",
      "hgvs": [
        "NM_001364302.1:c.848C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001351231.1:p.Ser283Ter",
        "hgvsWellDefined": "NP_001351231.1:p.Ser283_Asn490delinsIleArgLysGluGlyAspGlyGluAlaLysSerAlaLysProGlyAspAspValArgGluArgIleIleLysArgAlaAlaLeuGluPheGluAspGlyMetTyrAlaAsnLeuGlyIleGlyIleProLeuLeuAlaSerAsnPheIleSerProAsnIleThrValHisLeuGlnSerGluAsnGlyValLeuGlyLeuGlyProTyrProArgGlnHisGluAlaAspAlaAspLeuIleAsnAlaGlyLysGluThrValThrIleLeuProGlyAlaSerPhePheSerSerAspGluSerPheAlaMetIleArgGlyGlyHisValAspLeuThrMetLeuGlyAlaMetGlnValSerLysTyrGlyAspLeuAlaAsnTrpMetIleProGlyAsnAlaHisLysIleMetGluLysCysThrLeuProLeuThrGlyLysGlnCysValAsnArgIleIleThrGluLysAlaValPheAspValAspLysLysLysGlyLeuThrLeuIleGluLeuTrpGluGlyLeuThrValAspAspValGlnLysSerThrGlyCysAspPheAlaValSerProLysLeuMetProMetGlnGlnIleAlaAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523796"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916044722",
      "coordinates": [
        {
          "allele": "G",
          "end": 367,
          "referenceAllele": "C",
          "start": 366
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008527",
      "geneNCBI_id": 5019,
      "geneSymbol": "OXCT1",
      "hgvs": [
        "NM_001364303.1:c.290C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001351232.1:p.Ser97Ter",
        "hgvsWellDefined": "NP_001351232.1:p.Ser97_Asn334delinsIleArgLysGluGlyAspGlyGluAlaLysSerAlaLysProGlyAspAspValArgGluArgIleIleLysArgAlaAlaLeuGluPheGluAspGlyMetTyrAlaAsnLeuGlyIleGlyIleProLeuLeuAlaSerAsnPheIleSerProAsnIleThrValHisLeuGlnSerGluAsnGlyValLeuGlyLeuGlyProTyrProArgGlnHisGluAlaAspAlaAspLeuIleAsnAlaGlyLysGluThrValThrIleLeuProGlyAlaSerPhePheSerSerAspGluSerPheAlaMetIleArgGlyGlyHisValAspLeuThrMetLeuGlyAlaMetGlnValSerLysTyrGlyAspLeuAlaAsnTrpMetIleProGlyLysMetValLysGlyMetGlyGlyAlaMetAspLeuValSerSerAlaLysThrLysValValValThrMetGluHisSerAlaLysGlyAsnAlaHisLysIleMetGluLysCysThrLeuProLeuThrGlyLysGlnCysValAsnArgIleIleThrGluLysAlaValPheAspValAspLysLysLysGlyLeuThrLeuIleGluLeuTrpGluGlyLeuThrValAspAspValGlnLysSerThrGlyCysAspPheAlaValSerProLysLeuMetProMetGlnGlnIleAlaAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523797"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 915,
          "referenceAllele": "C",
          "start": 914
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008527",
      "geneNCBI_id": 5019,
      "geneSymbol": "OXCT1",
      "hgvs": [
        "NR_157114.1:n.915C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531970"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1025,
          "referenceAllele": "C",
          "start": 1024
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008527",
      "geneNCBI_id": 5019,
      "geneSymbol": "OXCT1",
      "hgvs": [
        "XR_001742081.2:n.1025C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591943"
    },
    {
      "@id": "http://reg.genome.network/allele/PA119338",
      "coordinates": [
        {
          "allele": "G",
          "end": 915,
          "referenceAllele": "C",
          "start": 914
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008527",
      "geneNCBI_id": 5019,
      "geneSymbol": "OXCT1",
      "hgvs": [
        "NM_000436.4:c.848C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000427.1:p.Ser283Ter",
        "hgvsWellDefined": "NP_000427.1:p.Ser283_Asn520delinsIleArgLysGluGlyAspGlyGluAlaLysSerAlaLysProGlyAspAspValArgGluArgIleIleLysArgAlaAlaLeuGluPheGluAspGlyMetTyrAlaAsnLeuGlyIleGlyIleProLeuLeuAlaSerAsnPheIleSerProAsnIleThrValHisLeuGlnSerGluAsnGlyValLeuGlyLeuGlyProTyrProArgGlnHisGluAlaAspAlaAspLeuIleAsnAlaGlyLysGluThrValThrIleLeuProGlyAlaSerPhePheSerSerAspGluSerPheAlaMetIleArgGlyGlyHisValAspLeuThrMetLeuGlyAlaMetGlnValSerLysTyrGlyAspLeuAlaAsnTrpMetIleProGlyLysMetValLysGlyMetGlyGlyAlaMetAspLeuValSerSerAlaLysThrLysValValValThrMetGluHisSerAlaLysGlyAsnAlaHisLysIleMetGluLysCysThrLeuProLeuThrGlyLysGlnCysValAsnArgIleIleThrGluLysAlaValPheAspValAspLysLysLysGlyLeuThrLeuIleGluLeuTrpGluGlyLeuThrValAspAspValGlnLysSerThrGlyCysAspPheAlaValSerProLysLeuMetProMetGlnGlnIleAlaAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662443",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000196371.10:c.848C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000436.4:c.848C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000196371.5:p.Ser283Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000427.1:p.Ser283Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828135951",
      "coordinates": [
        {
          "allele": "G",
          "end": 936,
          "referenceAllele": "C",
          "start": 935
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008527",
      "geneNCBI_id": 5019,
      "geneSymbol": "OXCT1",
      "hgvs": [
        "NM_001364299.2:c.869C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001351228.1:p.Ser290Ter",
        "hgvsWellDefined": "NP_001351228.1:p.Ser290_Asn527delinsIleArgLysGluGlyAspGlyGluAlaLysSerAlaLysProGlyAspAspValArgGluArgIleIleLysArgAlaAlaLeuGluPheGluAspGlyMetTyrAlaAsnLeuGlyIleGlyIleProLeuLeuAlaSerAsnPheIleSerProAsnIleThrValHisLeuGlnSerGluAsnGlyValLeuGlyLeuGlyProTyrProArgGlnHisGluAlaAspAlaAspLeuIleAsnAlaGlyLysGluThrValThrIleLeuProGlyAlaSerPhePheSerSerAspGluSerPheAlaMetIleArgGlyGlyHisValAspLeuThrMetLeuGlyAlaMetGlnValSerLysTyrGlyAspLeuAlaAsnTrpMetIleProGlyLysMetValLysGlyMetGlyGlyAlaMetAspLeuValSerSerAlaLysThrLysValValValThrMetGluHisSerAlaLysGlyAsnAlaHisLysIleMetGluLysCysThrLeuProLeuThrGlyLysGlnCysValAsnArgIleIleThrGluLysAlaValPheAspValAspLysLysLysGlyLeuThrLeuIleGluLeuTrpGluGlyLeuThrValAspAspValGlnLysSerThrGlyCysAspPheAlaValSerProLysLeuMetProMetGlnGlnIleAlaAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690864"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828136034",
      "coordinates": [
        {
          "allele": "G",
          "end": 1551,
          "referenceAllele": "C",
          "start": 1550
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008527",
      "geneNCBI_id": 5019,
      "geneSymbol": "OXCT1",
      "hgvs": [
        "NM_001364300.2:c.869C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001351229.1:p.Ser290Ter",
        "hgvsWellDefined": "NP_001351229.1:p.Ser290_Asn527delinsIleArgLysGluGlyAspGlyGluAlaLysSerAlaLysProGlyAspAspValArgGluArgIleIleLysArgAlaAlaLeuGluPheGluAspGlyMetTyrAlaAsnLeuGlyIleGlyIleProLeuLeuAlaSerAsnPheIleSerProAsnIleThrValHisLeuGlnSerGluAsnGlyValLeuGlyLeuGlyProTyrProArgGlnHisGluAlaAspAlaAspLeuIleAsnAlaGlyLysGluThrValThrIleLeuProGlyAlaSerPhePheSerSerAspGluSerPheAlaMetIleArgGlyGlyHisValAspLeuThrMetLeuGlyAlaMetGlnValSerLysTyrGlyAspLeuAlaAsnTrpMetIleProGlyLysMetValLysGlyMetGlyGlyAlaMetAspLeuValSerSerAlaLysThrLysValValValThrMetGluHisSerAlaLysGlyAsnAlaHisLysIleMetGluLysCysThrLeuProLeuThrGlyLysGlnCysValAsnArgIleIleThrGluLysAlaValPheAspValAspLysLysLysGlyLeuThrLeuIleGluLeuTrpGluGlyLeuThrValAspAspValGlnLysSerThrGlyCysAspPheAlaValSerProLysLeuMetProMetGlnGlnIleAlaAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690865"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828136114",
      "coordinates": [
        {
          "allele": "G",
          "end": 909,
          "referenceAllele": "C",
          "start": 908
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008527",
      "geneNCBI_id": 5019,
      "geneSymbol": "OXCT1",
      "hgvs": [
        "NM_001364301.2:c.842C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001351230.1:p.Ser281Ter",
        "hgvsWellDefined": "NP_001351230.1:p.Ser281_Asn518delinsIleArgLysGluGlyAspGlyGluAlaLysSerAlaLysProGlyAspAspValArgGluArgIleIleLysArgAlaAlaLeuGluPheGluAspGlyMetTyrAlaAsnLeuGlyIleGlyIleProLeuLeuAlaSerAsnPheIleSerProAsnIleThrValHisLeuGlnSerGluAsnGlyValLeuGlyLeuGlyProTyrProArgGlnHisGluAlaAspAlaAspLeuIleAsnAlaGlyLysGluThrValThrIleLeuProGlyAlaSerPhePheSerSerAspGluSerPheAlaMetIleArgGlyGlyHisValAspLeuThrMetLeuGlyAlaMetGlnValSerLysTyrGlyAspLeuAlaAsnTrpMetIleProGlyLysMetValLysGlyMetGlyGlyAlaMetAspLeuValSerSerAlaLysThrLysValValValThrMetGluHisSerAlaLysGlyAsnAlaHisLysIleMetGluLysCysThrLeuProLeuThrGlyLysGlnCysValAsnArgIleIleThrGluLysAlaValPheAspValAspLysLysLysGlyLeuThrLeuIleGluLeuTrpGluGlyLeuThrValAspAspValGlnLysSerThrGlyCysAspPheAlaValSerProLysLeuMetProMetGlnGlnIleAlaAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690866"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828136218",
      "coordinates": [
        {
          "allele": "G",
          "end": 915,
          "referenceAllele": "C",
          "start": 914
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008527",
      "geneNCBI_id": 5019,
      "geneSymbol": "OXCT1",
      "hgvs": [
        "NM_001364302.2:c.848C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001351231.1:p.Ser283Ter",
        "hgvsWellDefined": "NP_001351231.1:p.Ser283_Asn490delinsIleArgLysGluGlyAspGlyGluAlaLysSerAlaLysProGlyAspAspValArgGluArgIleIleLysArgAlaAlaLeuGluPheGluAspGlyMetTyrAlaAsnLeuGlyIleGlyIleProLeuLeuAlaSerAsnPheIleSerProAsnIleThrValHisLeuGlnSerGluAsnGlyValLeuGlyLeuGlyProTyrProArgGlnHisGluAlaAspAlaAspLeuIleAsnAlaGlyLysGluThrValThrIleLeuProGlyAlaSerPhePheSerSerAspGluSerPheAlaMetIleArgGlyGlyHisValAspLeuThrMetLeuGlyAlaMetGlnValSerLysTyrGlyAspLeuAlaAsnTrpMetIleProGlyAsnAlaHisLysIleMetGluLysCysThrLeuProLeuThrGlyLysGlnCysValAsnArgIleIleThrGluLysAlaValPheAspValAspLysLysLysGlyLeuThrLeuIleGluLeuTrpGluGlyLeuThrValAspAspValGlnLysSerThrGlyCysAspPheAlaValSerProLysLeuMetProMetGlnGlnIleAlaAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690867"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 915,
          "referenceAllele": "C",
          "start": 914
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008527",
      "geneNCBI_id": 5019,
      "geneSymbol": "OXCT1",
      "hgvs": [
        "NR_157114.2:n.915C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704992"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916044722",
      "coordinates": [
        {
          "allele": "G",
          "end": 367,
          "referenceAllele": "C",
          "start": 366
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008527",
      "geneNCBI_id": 5019,
      "geneSymbol": "OXCT1",
      "hgvs": [
        "NM_001364303.2:c.290C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001351232.1:p.Ser97Ter",
        "hgvsWellDefined": "NP_001351232.1:p.Ser97_Asn334delinsIleArgLysGluGlyAspGlyGluAlaLysSerAlaLysProGlyAspAspValArgGluArgIleIleLysArgAlaAlaLeuGluPheGluAspGlyMetTyrAlaAsnLeuGlyIleGlyIleProLeuLeuAlaSerAsnPheIleSerProAsnIleThrValHisLeuGlnSerGluAsnGlyValLeuGlyLeuGlyProTyrProArgGlnHisGluAlaAspAlaAspLeuIleAsnAlaGlyLysGluThrValThrIleLeuProGlyAlaSerPhePheSerSerAspGluSerPheAlaMetIleArgGlyGlyHisValAspLeuThrMetLeuGlyAlaMetGlnValSerLysTyrGlyAspLeuAlaAsnTrpMetIleProGlyLysMetValLysGlyMetGlyGlyAlaMetAspLeuValSerSerAlaLysThrLysValValValThrMetGluHisSerAlaLysGlyAsnAlaHisLysIleMetGluLysCysThrLeuProLeuThrGlyLysGlnCysValAsnArgIleIleThrGluLysAlaValPheAspValAspLysLysLysGlyLeuThrLeuIleGluLeuTrpGluGlyLeuThrValAspAspValGlnLysSerThrGlyCysAspPheAlaValSerProLysLeuMetProMetGlnGlnIleAlaAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720843"
    }
  ],
  "type": "nucleotide"
}