{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2415871",
  "communityStandardTitle": [
    "NM_033159.4(HYAL1):c.787C>T (p.Gln263Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1059862[alleleid]",
        "alleleId": 1059862,
        "preferredName": "NM_033159.4(HYAL1):c.787C>T (p.Gln263Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1073037",
        "RCV": [
          "RCV001385919"
        ],
        "variationId": 1073037
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/3-50339601-G-A",
        "id": "3-50339601-G-A",
        "variant": "3:50339601 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.50339601G>A?assembly=hg19",
        "id": "chr3:g.50339601G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.50302170G>A?assembly=hg38",
        "id": "chr3:g.50302170G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/782240278",
        "rs": 782240278
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-50339601-G-A?dataset=gnomad_r2_1",
        "id": "3-50339601-G-A",
        "variant": "3:50339601 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-50302170-G-A?dataset=gnomad_r3",
        "id": "3-50302170-G-A",
        "variant": "3:50302170 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-50302170-G-A?dataset=gnomad_r4",
        "id": "3-50302170-G-A",
        "variant": "3:50302170 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 50302170,
          "referenceAllele": "G",
          "start": 50302169
        }
      ],
      "hgvs": [
        "NC_000003.12:g.50302170G>A",
        "CM000665.2:g.50302170G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 50339601,
          "referenceAllele": "G",
          "start": 50339600
        }
      ],
      "hgvs": [
        "NC_000003.11:g.50339601G>A",
        "CM000665.1:g.50339601G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 50314605,
          "referenceAllele": "G",
          "start": 50314604
        }
      ],
      "hgvs": [
        "NC_000003.10:g.50314605G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 15212,
          "referenceAllele": "C",
          "start": 15211
        }
      ],
      "hgvs": [
        "NG_009295.1:g.15212C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001551"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 920,
          "referenceAllele": "C",
          "start": 919
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005320",
      "geneNCBI_id": 3373,
      "geneSymbol": "HYAL1",
      "hgvs": [
        "ENST00000395144.7:c.787C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378576.2:p.Gln263Ter",
        "hgvsWellDefined": "ENSP00000378576.2:p.Gln263_Trp435delinsHisArgValAlaGluAlaPheArgValAlaValAlaAlaGlyAspProAsnLeuProValLeuProTyrValGlnIlePheTyrAspThrThrAsnHisPheLeuProLeuAspGluLeuGluHisSerLeuGlyGluSerAlaAlaGlnGlyAlaAlaGlyValValLeuTrpValSerTrpGluAsnThrArgThrLysGluSerCysGlnAlaIleLysGluTyrMetAspThrThrLeuGlyProPheIleLeuAsnValThrSerGlyAlaLeuLeuCysSerGlnAlaLeuCysSerGlyHisGlyArgCysValArgArgThrSerHisProLysAlaLeuLeuLeuLeuAsnProAlaSerPheSerIleGlnLeuThrProGlyGlyGlyProLeuSerLeuArgGlyAlaLeuSerLeuGluAspGlnAlaGlnMetAlaValGluPheLysCysArgCysTyrProGlyTrpGlnAlaProTrpCysGluArgLysSerMetTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753361",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000395144.7:c.787C>T"
          },
          "RefSeq": {
            "hgvs": "NM_033159.4:c.787C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000378576.2:p.Gln263Ter"
          },
          "RefSeq": {
            "hgvs": "NP_149349.2:p.Gln263Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1403,
          "referenceAllele": "C",
          "start": 1402
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005320",
      "geneNCBI_id": 3373,
      "geneSymbol": "HYAL1",
      "hgvs": [
        "ENST00000266031.8:c.787C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000266031.4:p.Gln263Ter",
        "hgvsWellDefined": "ENSP00000266031.4:p.Gln263_Trp435delinsHisArgValAlaGluAlaPheArgValAlaValAlaAlaGlyAspProAsnLeuProValLeuProTyrValGlnIlePheTyrAspThrThrAsnHisPheLeuProLeuAspGluLeuGluHisSerLeuGlyGluSerAlaAlaGlnGlyAlaAlaGlyValValLeuTrpValSerTrpGluAsnThrArgThrLysGluSerCysGlnAlaIleLysGluTyrMetAspThrThrLeuGlyProPheIleLeuAsnValThrSerGlyAlaLeuLeuCysSerGlnAlaLeuCysSerGlyHisGlyArgCysValArgArgThrSerHisProLysAlaLeuLeuLeuLeuAsnProAlaSerPheSerIleGlnLeuThrProGlyGlyGlyProLeuSerLeuArgGlyAlaLeuSerLeuGluAspGlnAlaGlnMetAlaValGluPheLysCysArgCysTyrProGlyTrpGlnAlaProTrpCysGluArgLysSerMetTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251869"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1214,
          "referenceAllele": "C",
          "start": 1213
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005320",
      "geneNCBI_id": 3373,
      "geneSymbol": "HYAL1",
      "hgvs": [
        "ENST00000320295.12:c.787C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346068.5:p.Gln263Ter",
        "hgvsWellDefined": "ENSP00000346068.5:p.Gln263_Trp435delinsHisArgValAlaGluAlaPheArgValAlaValAlaAlaGlyAspProAsnLeuProValLeuProTyrValGlnIlePheTyrAspThrThrAsnHisPheLeuProLeuAspGluLeuGluHisSerLeuGlyGluSerAlaAlaGlnGlyAlaAlaGlyValValLeuTrpValSerTrpGluAsnThrArgThrLysGluSerCysGlnAlaIleLysGluTyrMetAspThrThrLeuGlyProPheIleLeuAsnValThrSerGlyAlaLeuLeuCysSerGlnAlaLeuCysSerGlyHisGlyArgCysValArgArgThrSerHisProLysAlaLeuLeuLeuLeuAsnProAlaSerPheSerIleGlnLeuThrProGlyGlyGlyProLeuSerLeuArgGlyAlaLeuSerLeuGluAspGlnAlaGlnMetAlaValGluPheLysCysArgCysTyrProGlyTrpGlnAlaProTrpCysGluArgLysSerMetTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257785"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 919,
          "referenceAllele": "C",
          "start": 918
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005320",
      "geneNCBI_id": 3373,
      "geneSymbol": "HYAL1",
      "hgvs": [
        "ENST00000395143.6:c.787C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378575.2:p.Gln263Ter",
        "hgvsWellDefined": "ENSP00000378575.2:p.Gln263_Trp405delinsHisArgValAlaGluAlaPheArgValAlaValAlaAlaGlyAspProAsnLeuProValLeuProTyrValGlnIlePheTyrAspThrThrAsnHisPheLeuProLeuGluSerCysGlnAlaIleLysGluTyrMetAspThrThrLeuGlyProPheIleLeuAsnValThrSerGlyAlaLeuLeuCysSerGlnAlaLeuCysSerGlyHisGlyArgCysValArgArgThrSerHisProLysAlaLeuLeuLeuLeuAsnProAlaSerPheSerIleGlnLeuThrProGlyGlyGlyProLeuSerLeuArgGlyAlaLeuSerLeuGluAspGlnAlaGlnMetAlaValGluPheLysCysArgCysTyrProGlyTrpGlnAlaProTrpCysGluArgLysSerMetTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276542"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 966,
          "referenceAllele": "C",
          "start": 965
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005320",
      "geneNCBI_id": 3373,
      "geneSymbol": "HYAL1",
      "hgvs": [
        "ENST00000395144.6:c.787C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378576.2:p.Gln263Ter",
        "hgvsWellDefined": "ENSP00000378576.2:p.Gln263_Trp435delinsHisArgValAlaGluAlaPheArgValAlaValAlaAlaGlyAspProAsnLeuProValLeuProTyrValGlnIlePheTyrAspThrThrAsnHisPheLeuProLeuAspGluLeuGluHisSerLeuGlyGluSerAlaAlaGlnGlyAlaAlaGlyValValLeuTrpValSerTrpGluAsnThrArgThrLysGluSerCysGlnAlaIleLysGluTyrMetAspThrThrLeuGlyProPheIleLeuAsnValThrSerGlyAlaLeuLeuCysSerGlnAlaLeuCysSerGlyHisGlyArgCysValArgArgThrSerHisProLysAlaLeuLeuLeuLeuAsnProAlaSerPheSerIleGlnLeuThrProGlyGlyGlyProLeuSerLeuArgGlyAlaLeuSerLeuGluAspGlnAlaGlnMetAlaValGluPheLysCysArgCysTyrProGlyTrpGlnAlaProTrpCysGluArgLysSerMetTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276543"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 144,
          "referenceAllele": "C",
          "start": 143
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005320",
      "geneNCBI_id": 3373,
      "geneSymbol": "HYAL1",
      "hgvs": [
        "ENST00000447605.2:c.10C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000390149.2:p.Gln4Ter",
        "hgvsWellDefined": "ENSP00000390149.2:p.Gln4_Trp176delinsHisArgValAlaGluAlaPheArgValAlaValAlaAlaGlyAspProAsnLeuProValLeuProTyrValGlnIlePheTyrAspThrThrAsnHisPheLeuProLeuAspGluLeuGluHisSerLeuGlyGluSerAlaAlaGlnGlyAlaAlaGlyValValLeuTrpValSerTrpGluAsnThrArgThrLysGluSerCysGlnAlaIleLysGluTyrMetAspThrThrLeuGlyProPheIleLeuAsnValThrSerGlyAlaLeuLeuCysSerGlnAlaLeuCysSerGlyHisGlyArgCysValArgArgThrSerHisProLysAlaLeuLeuLeuLeuAsnProAlaSerPheSerIleGlnLeuThrProGlyGlyGlyProLeuSerLeuArgGlyAlaLeuSerLeuGluAspGlnAlaGlnMetAlaValGluPheLysCysArgCysTyrProGlyTrpGlnAlaProTrpCysGluArgLysSerMetTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299326"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 562,
          "referenceAllele": "C",
          "start": 561
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005320",
      "geneNCBI_id": 3373,
      "geneSymbol": "HYAL1",
      "hgvs": [
        "ENST00000457214.6:c.241C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000393358.2:p.Gln81Ter",
        "hgvsWellDefined": "ENSP00000393358.2:p.Gln81_Trp253delinsHisArgValAlaGluAlaPheArgValAlaValAlaAlaGlyAspProAsnLeuProValLeuProTyrValGlnIlePheTyrAspThrThrAsnHisPheLeuProLeuAspGluLeuGluHisSerLeuGlyGluSerAlaAlaGlnGlyAlaAlaGlyValValLeuTrpValSerTrpGluAsnThrArgThrLysGluSerCysGlnAlaIleLysGluTyrMetAspThrThrLeuGlyProPheIleLeuAsnValThrSerGlyAlaLeuLeuCysSerGlnAlaLeuCysSerGlyHisGlyArgCysValArgArgThrSerHisProLysAlaLeuLeuLeuLeuAsnProAlaSerPheSerIleGlnLeuThrProGlyGlyGlyProLeuSerLeuArgGlyAlaLeuSerLeuGluAspGlnAlaGlnMetAlaValGluPheLysCysArgCysTyrProGlyTrpGlnAlaProTrpCysGluArgLysSerMetTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS303847"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1111,
          "referenceAllele": "C",
          "start": 1110
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005320",
      "geneNCBI_id": 3373,
      "geneSymbol": "HYAL1",
      "hgvs": [
        "ENST00000618175.4:c.787C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000477903.1:p.Gln263Ter",
        "hgvsWellDefined": "ENSP00000477903.1:p.Gln263_Trp435delinsHisArgValAlaGluAlaPheArgValAlaValAlaAlaGlyAspProAsnLeuProValLeuProTyrValGlnIlePheTyrAspThrThrAsnHisPheLeuProLeuAspGluLeuGluHisSerLeuGlyGluSerAlaAlaGlnGlyAlaAlaGlyValValLeuTrpValSerTrpGluAsnThrArgThrLysGluSerCysGlnAlaIleLysGluTyrMetAspThrThrLeuGlyProPheIleLeuAsnValThrSerGlyAlaLeuLeuCysSerGlnAlaLeuCysSerGlyHisGlyArgCysValArgArgThrSerHisProLysAlaLeuLeuLeuLeuAsnProAlaSerPheSerIleGlnLeuThrProGlyGlyGlyProLeuSerLeuArgGlyAlaLeuSerLeuGluAspGlnAlaGlnMetAlaValGluPheLysCysArgCysTyrProGlyTrpGlnAlaProTrpCysGluArgLysSerMetTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403824"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830099564",
      "coordinates": [
        {
          "allele": "T",
          "end": 947,
          "referenceAllele": "C",
          "start": 946
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005320",
      "geneNCBI_id": 3373,
      "geneSymbol": "HYAL1",
      "hgvs": [
        "NM_033159.3:c.787C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_149349.2:p.Gln263Ter",
        "hgvsWellDefined": "NP_149349.2:p.Gln263_Trp435delinsHisArgValAlaGluAlaPheArgValAlaValAlaAlaGlyAspProAsnLeuProValLeuProTyrValGlnIlePheTyrAspThrThrAsnHisPheLeuProLeuAspGluLeuGluHisSerLeuGlyGluSerAlaAlaGlnGlyAlaAlaGlyValValLeuTrpValSerTrpGluAsnThrArgThrLysGluSerCysGlnAlaIleLysGluTyrMetAspThrThrLeuGlyProPheIleLeuAsnValThrSerGlyAlaLeuLeuCysSerGlnAlaLeuCysSerGlyHisGlyArgCysValArgArgThrSerHisProLysAlaLeuLeuLeuLeuAsnProAlaSerPheSerIleGlnLeuThrProGlyGlyGlyProLeuSerLeuArgGlyAlaLeuSerLeuGluAspGlnAlaGlnMetAlaValGluPheLysCysArgCysTyrProGlyTrpGlnAlaProTrpCysGluArgLysSerMetTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039572"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830321317",
      "coordinates": [
        {
          "allele": "T",
          "end": 1214,
          "referenceAllele": "C",
          "start": 1213
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005320",
      "geneNCBI_id": 3373,
      "geneSymbol": "HYAL1",
      "hgvs": [
        "NM_153281.1:c.787C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_695013.1:p.Gln263Ter",
        "hgvsWellDefined": "NP_695013.1:p.Gln263_Trp435delinsHisArgValAlaGluAlaPheArgValAlaValAlaAlaGlyAspProAsnLeuProValLeuProTyrValGlnIlePheTyrAspThrThrAsnHisPheLeuProLeuAspGluLeuGluHisSerLeuGlyGluSerAlaAlaGlnGlyAlaAlaGlyValValLeuTrpValSerTrpGluAsnThrArgThrLysGluSerCysGlnAlaIleLysGluTyrMetAspThrThrLeuGlyProPheIleLeuAsnValThrSerGlyAlaLeuLeuCysSerGlnAlaLeuCysSerGlyHisGlyArgCysValArgArgThrSerHisProLysAlaLeuLeuLeuLeuAsnProAlaSerPheSerIleGlnLeuThrProGlyGlyGlyProLeuSerLeuArgGlyAlaLeuSerLeuGluAspGlnAlaGlnMetAlaValGluPheLysCysArgCysTyrProGlyTrpGlnAlaProTrpCysGluArgLysSerMetTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042329"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830321797",
      "coordinates": [
        {
          "allele": "T",
          "end": 947,
          "referenceAllele": "C",
          "start": 946
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005320",
      "geneNCBI_id": 3373,
      "geneSymbol": "HYAL1",
      "hgvs": [
        "NM_153282.2:c.787C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_695014.1:p.Gln263Ter",
        "hgvsWellDefined": "NP_695014.1:p.Gln263_Trp405delinsHisArgValAlaGluAlaPheArgValAlaValAlaAlaGlyAspProAsnLeuProValLeuProTyrValGlnIlePheTyrAspThrThrAsnHisPheLeuProLeuGluSerCysGlnAlaIleLysGluTyrMetAspThrThrLeuGlyProPheIleLeuAsnValThrSerGlyAlaLeuLeuCysSerGlnAlaLeuCysSerGlyHisGlyArgCysValArgArgThrSerHisProLysAlaLeuLeuLeuLeuAsnProAlaSerPheSerIleGlnLeuThrProGlyGlyGlyProLeuSerLeuArgGlyAlaLeuSerLeuGluAspGlnAlaGlnMetAlaValGluPheLysCysArgCysTyrProGlyTrpGlnAlaProTrpCysGluArgLysSerMetTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042330"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499299438",
      "coordinates": [
        {
          "allele": "T",
          "end": 590,
          "referenceAllele": "C",
          "start": 589
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005320",
      "geneNCBI_id": 3373,
      "geneSymbol": "HYAL1",
      "hgvs": [
        "NM_153283.2:c.241C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_695015.1:p.Gln81Ter",
        "hgvsWellDefined": "NP_695015.1:p.Gln81_Trp253delinsHisArgValAlaGluAlaPheArgValAlaValAlaAlaGlyAspProAsnLeuProValLeuProTyrValGlnIlePheTyrAspThrThrAsnHisPheLeuProLeuAspGluLeuGluHisSerLeuGlyGluSerAlaAlaGlnGlyAlaAlaGlyValValLeuTrpValSerTrpGluAsnThrArgThrLysGluSerCysGlnAlaIleLysGluTyrMetAspThrThrLeuGlyProPheIleLeuAsnValThrSerGlyAlaLeuLeuCysSerGlnAlaLeuCysSerGlyHisGlyArgCysValArgArgThrSerHisProLysAlaLeuLeuLeuLeuAsnProAlaSerPheSerIleGlnLeuThrProGlyGlyGlyProLeuSerLeuArgGlyAlaLeuSerLeuGluAspGlnAlaGlnMetAlaValGluPheLysCysArgCysTyrProGlyTrpGlnAlaProTrpCysGluArgLysSerMetTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042331"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830322461",
      "coordinates": [
        {
          "allele": "T",
          "end": 172,
          "referenceAllele": "C",
          "start": 171
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005320",
      "geneNCBI_id": 3373,
      "geneSymbol": "HYAL1",
      "hgvs": [
        "NM_153285.2:c.10C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_695017.1:p.Gln4Ter",
        "hgvsWellDefined": "NP_695017.1:p.Gln4_Trp176delinsHisArgValAlaGluAlaPheArgValAlaValAlaAlaGlyAspProAsnLeuProValLeuProTyrValGlnIlePheTyrAspThrThrAsnHisPheLeuProLeuAspGluLeuGluHisSerLeuGlyGluSerAlaAlaGlnGlyAlaAlaGlyValValLeuTrpValSerTrpGluAsnThrArgThrLysGluSerCysGlnAlaIleLysGluTyrMetAspThrThrLeuGlyProPheIleLeuAsnValThrSerGlyAlaLeuLeuCysSerGlnAlaLeuCysSerGlyHisGlyArgCysValArgArgThrSerHisProLysAlaLeuLeuLeuLeuAsnProAlaSerPheSerIleGlnLeuThrProGlyGlyGlyProLeuSerLeuArgGlyAlaLeuSerLeuGluAspGlnAlaGlnMetAlaValGluPheLysCysArgCysTyrProGlyTrpGlnAlaProTrpCysGluArgLysSerMetTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042332"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1432,
          "referenceAllele": "C",
          "start": 1431
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005320",
      "geneNCBI_id": 3373,
      "geneSymbol": "HYAL1",
      "hgvs": [
        "NR_047690.1:n.1432C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS052122"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1334,
          "referenceAllele": "C",
          "start": 1333
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005320",
      "geneNCBI_id": 3373,
      "geneSymbol": "HYAL1",
      "hgvs": [
        "XM_011533667.1:c.787C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531969.1:p.Gln263Ter",
        "hgvsWellDefined": "XP_011531969.1:p.Gln263_Trp435delinsHisArgValAlaGluAlaPheArgValAlaValAlaAlaGlyAspProAsnLeuProValLeuProTyrValGlnIlePheTyrAspThrThrAsnHisPheLeuProLeuAspGluLeuGluHisSerLeuGlyGluSerAlaAlaGlnGlyAlaAlaGlyValValLeuTrpValSerTrpGluAsnThrArgThrLysGluSerCysGlnAlaIleLysGluTyrMetAspThrThrLeuGlyProPheIleLeuAsnValThrSerGlyAlaLeuLeuCysSerGlnAlaLeuCysSerGlyHisGlyArgCysValArgArgThrSerHisProLysAlaLeuLeuLeuLeuAsnProAlaSerPheSerIleGlnLeuThrProGlyGlyGlyProLeuSerLeuArgGlyAlaLeuSerLeuGluAspGlnAlaGlnMetAlaValGluPheLysCysArgCysTyrProGlyTrpGlnAlaProTrpCysGluArgLysSerMetTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100688"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1140,
          "referenceAllele": "C",
          "start": 1139
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005320",
      "geneNCBI_id": 3373,
      "geneSymbol": "HYAL1",
      "hgvs": [
        "XM_011533668.1:c.787C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531970.1:p.Gln263Ter",
        "hgvsWellDefined": "XP_011531970.1:p.Gln263_Trp435delinsHisArgValAlaGluAlaPheArgValAlaValAlaAlaGlyAspProAsnLeuProValLeuProTyrValGlnIlePheTyrAspThrThrAsnHisPheLeuProLeuAspGluLeuGluHisSerLeuGlyGluSerAlaAlaGlnGlyAlaAlaGlyValValLeuTrpValSerTrpGluAsnThrArgThrLysGluSerCysGlnAlaIleLysGluTyrMetAspThrThrLeuGlyProPheIleLeuAsnValThrSerGlyAlaLeuLeuCysSerGlnAlaLeuCysSerGlyHisGlyArgCysValArgArgThrSerHisProLysAlaLeuLeuLeuLeuAsnProAlaSerPheSerIleGlnLeuThrProGlyGlyGlyProLeuSerLeuArgGlyAlaLeuSerLeuGluAspGlnAlaGlnMetAlaValGluPheLysCysArgCysTyrProGlyTrpGlnAlaProTrpCysGluArgLysSerMetTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100689"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1093,
          "referenceAllele": "C",
          "start": 1092
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005320",
      "geneNCBI_id": 3373,
      "geneSymbol": "HYAL1",
      "hgvs": [
        "XM_011533669.1:c.787C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531971.1:p.Gln263Ter",
        "hgvsWellDefined": "XP_011531971.1:p.Gln263_Trp435delinsHisArgValAlaGluAlaPheArgValAlaValAlaAlaGlyAspProAsnLeuProValLeuProTyrValGlnIlePheTyrAspThrThrAsnHisPheLeuProLeuAspGluLeuGluHisSerLeuGlyGluSerAlaAlaGlnGlyAlaAlaGlyValValLeuTrpValSerTrpGluAsnThrArgThrLysGluSerCysGlnAlaIleLysGluTyrMetAspThrThrLeuGlyProPheIleLeuAsnValThrSerGlyAlaLeuLeuCysSerGlnAlaLeuCysSerGlyHisGlyArgCysValArgArgThrSerHisProLysAlaLeuLeuLeuLeuAsnProAlaSerPheSerIleGlnLeuThrProGlyGlyGlyProLeuSerLeuArgGlyAlaLeuSerLeuGluAspGlnAlaGlnMetAlaValGluPheLysCysArgCysTyrProGlyTrpGlnAlaProTrpCysGluArgLysSerMetTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100690"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1337,
          "referenceAllele": "C",
          "start": 1336
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005320",
      "geneNCBI_id": 3373,
      "geneSymbol": "HYAL1",
      "hgvs": [
        "XM_011533667.2:c.787C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531969.1:p.Gln263Ter",
        "hgvsWellDefined": "XP_011531969.1:p.Gln263_Trp435delinsHisArgValAlaGluAlaPheArgValAlaValAlaAlaGlyAspProAsnLeuProValLeuProTyrValGlnIlePheTyrAspThrThrAsnHisPheLeuProLeuAspGluLeuGluHisSerLeuGlyGluSerAlaAlaGlnGlyAlaAlaGlyValValLeuTrpValSerTrpGluAsnThrArgThrLysGluSerCysGlnAlaIleLysGluTyrMetAspThrThrLeuGlyProPheIleLeuAsnValThrSerGlyAlaLeuLeuCysSerGlnAlaLeuCysSerGlyHisGlyArgCysValArgArgThrSerHisProLysAlaLeuLeuLeuLeuAsnProAlaSerPheSerIleGlnLeuThrProGlyGlyGlyProLeuSerLeuArgGlyAlaLeuSerLeuGluAspGlnAlaGlnMetAlaValGluPheLysCysArgCysTyrProGlyTrpGlnAlaProTrpCysGluArgLysSerMetTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551332"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1228,
          "referenceAllele": "C",
          "start": 1227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005320",
      "geneNCBI_id": 3373,
      "geneSymbol": "HYAL1",
      "hgvs": [
        "XM_011533668.2:c.787C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531970.1:p.Gln263Ter",
        "hgvsWellDefined": "XP_011531970.1:p.Gln263_Trp435delinsHisArgValAlaGluAlaPheArgValAlaValAlaAlaGlyAspProAsnLeuProValLeuProTyrValGlnIlePheTyrAspThrThrAsnHisPheLeuProLeuAspGluLeuGluHisSerLeuGlyGluSerAlaAlaGlnGlyAlaAlaGlyValValLeuTrpValSerTrpGluAsnThrArgThrLysGluSerCysGlnAlaIleLysGluTyrMetAspThrThrLeuGlyProPheIleLeuAsnValThrSerGlyAlaLeuLeuCysSerGlnAlaLeuCysSerGlyHisGlyArgCysValArgArgThrSerHisProLysAlaLeuLeuLeuLeuAsnProAlaSerPheSerIleGlnLeuThrProGlyGlyGlyProLeuSerLeuArgGlyAlaLeuSerLeuGluAspGlnAlaGlnMetAlaValGluPheLysCysArgCysTyrProGlyTrpGlnAlaProTrpCysGluArgLysSerMetTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551333"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1625,
          "referenceAllele": "C",
          "start": 1624
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005320",
      "geneNCBI_id": 3373,
      "geneSymbol": "HYAL1",
      "hgvs": [
        "XM_011533669.2:c.787C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531971.1:p.Gln263Ter",
        "hgvsWellDefined": "XP_011531971.1:p.Gln263_Trp435delinsHisArgValAlaGluAlaPheArgValAlaValAlaAlaGlyAspProAsnLeuProValLeuProTyrValGlnIlePheTyrAspThrThrAsnHisPheLeuProLeuAspGluLeuGluHisSerLeuGlyGluSerAlaAlaGlnGlyAlaAlaGlyValValLeuTrpValSerTrpGluAsnThrArgThrLysGluSerCysGlnAlaIleLysGluTyrMetAspThrThrLeuGlyProPheIleLeuAsnValThrSerGlyAlaLeuLeuCysSerGlnAlaLeuCysSerGlyHisGlyArgCysValArgArgThrSerHisProLysAlaLeuLeuLeuLeuAsnProAlaSerPheSerIleGlnLeuThrProGlyGlyGlyProLeuSerLeuArgGlyAlaLeuSerLeuGluAspGlnAlaGlnMetAlaValGluPheLysCysArgCysTyrProGlyTrpGlnAlaProTrpCysGluArgLysSerMetTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551334"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830099564",
      "coordinates": [
        {
          "allele": "T",
          "end": 920,
          "referenceAllele": "C",
          "start": 919
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005320",
      "geneNCBI_id": 3373,
      "geneSymbol": "HYAL1",
      "hgvs": [
        "NM_033159.4:c.787C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_149349.2:p.Gln263Ter",
        "hgvsWellDefined": "NP_149349.2:p.Gln263_Trp435delinsHisArgValAlaGluAlaPheArgValAlaValAlaAlaGlyAspProAsnLeuProValLeuProTyrValGlnIlePheTyrAspThrThrAsnHisPheLeuProLeuAspGluLeuGluHisSerLeuGlyGluSerAlaAlaGlnGlyAlaAlaGlyValValLeuTrpValSerTrpGluAsnThrArgThrLysGluSerCysGlnAlaIleLysGluTyrMetAspThrThrLeuGlyProPheIleLeuAsnValThrSerGlyAlaLeuLeuCysSerGlnAlaLeuCysSerGlyHisGlyArgCysValArgArgThrSerHisProLysAlaLeuLeuLeuLeuAsnProAlaSerPheSerIleGlnLeuThrProGlyGlyGlyProLeuSerLeuArgGlyAlaLeuSerLeuGluAspGlnAlaGlnMetAlaValGluPheLysCysArgCysTyrProGlyTrpGlnAlaProTrpCysGluArgLysSerMetTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS671514",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000395144.7:c.787C>T"
          },
          "RefSeq": {
            "hgvs": "NM_033159.4:c.787C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000378576.2:p.Gln263Ter"
          },
          "RefSeq": {
            "hgvs": "NP_149349.2:p.Gln263Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830321797",
      "coordinates": [
        {
          "allele": "T",
          "end": 920,
          "referenceAllele": "C",
          "start": 919
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005320",
      "geneNCBI_id": 3373,
      "geneSymbol": "HYAL1",
      "hgvs": [
        "NM_153282.3:c.787C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_695014.1:p.Gln263Ter",
        "hgvsWellDefined": "NP_695014.1:p.Gln263_Trp405delinsHisArgValAlaGluAlaPheArgValAlaValAlaAlaGlyAspProAsnLeuProValLeuProTyrValGlnIlePheTyrAspThrThrAsnHisPheLeuProLeuGluSerCysGlnAlaIleLysGluTyrMetAspThrThrLeuGlyProPheIleLeuAsnValThrSerGlyAlaLeuLeuCysSerGlnAlaLeuCysSerGlyHisGlyArgCysValArgArgThrSerHisProLysAlaLeuLeuLeuLeuAsnProAlaSerPheSerIleGlnLeuThrProGlyGlyGlyProLeuSerLeuArgGlyAlaLeuSerLeuGluAspGlnAlaGlnMetAlaValGluPheLysCysArgCysTyrProGlyTrpGlnAlaProTrpCysGluArgLysSerMetTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700337"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499299438",
      "coordinates": [
        {
          "allele": "T",
          "end": 563,
          "referenceAllele": "C",
          "start": 562
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005320",
      "geneNCBI_id": 3373,
      "geneSymbol": "HYAL1",
      "hgvs": [
        "NM_153283.3:c.241C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_695015.1:p.Gln81Ter",
        "hgvsWellDefined": "NP_695015.1:p.Gln81_Trp253delinsHisArgValAlaGluAlaPheArgValAlaValAlaAlaGlyAspProAsnLeuProValLeuProTyrValGlnIlePheTyrAspThrThrAsnHisPheLeuProLeuAspGluLeuGluHisSerLeuGlyGluSerAlaAlaGlnGlyAlaAlaGlyValValLeuTrpValSerTrpGluAsnThrArgThrLysGluSerCysGlnAlaIleLysGluTyrMetAspThrThrLeuGlyProPheIleLeuAsnValThrSerGlyAlaLeuLeuCysSerGlnAlaLeuCysSerGlyHisGlyArgCysValArgArgThrSerHisProLysAlaLeuLeuLeuLeuAsnProAlaSerPheSerIleGlnLeuThrProGlyGlyGlyProLeuSerLeuArgGlyAlaLeuSerLeuGluAspGlnAlaGlnMetAlaValGluPheLysCysArgCysTyrProGlyTrpGlnAlaProTrpCysGluArgLysSerMetTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700338"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830322461",
      "coordinates": [
        {
          "allele": "T",
          "end": 145,
          "referenceAllele": "C",
          "start": 144
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005320",
      "geneNCBI_id": 3373,
      "geneSymbol": "HYAL1",
      "hgvs": [
        "NM_153285.3:c.10C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_695017.1:p.Gln4Ter",
        "hgvsWellDefined": "NP_695017.1:p.Gln4_Trp176delinsHisArgValAlaGluAlaPheArgValAlaValAlaAlaGlyAspProAsnLeuProValLeuProTyrValGlnIlePheTyrAspThrThrAsnHisPheLeuProLeuAspGluLeuGluHisSerLeuGlyGluSerAlaAlaGlnGlyAlaAlaGlyValValLeuTrpValSerTrpGluAsnThrArgThrLysGluSerCysGlnAlaIleLysGluTyrMetAspThrThrLeuGlyProPheIleLeuAsnValThrSerGlyAlaLeuLeuCysSerGlnAlaLeuCysSerGlyHisGlyArgCysValArgArgThrSerHisProLysAlaLeuLeuLeuLeuAsnProAlaSerPheSerIleGlnLeuThrProGlyGlyGlyProLeuSerLeuArgGlyAlaLeuSerLeuGluAspGlnAlaGlnMetAlaValGluPheLysCysArgCysTyrProGlyTrpGlnAlaProTrpCysGluArgLysSerMetTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700339"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1405,
          "referenceAllele": "C",
          "start": 1404
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005320",
      "geneNCBI_id": 3373,
      "geneSymbol": "HYAL1",
      "hgvs": [
        "NR_047690.2:n.1405C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702541"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830321317",
      "coordinates": [
        {
          "allele": "T",
          "end": 1214,
          "referenceAllele": "C",
          "start": 1213
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005320",
      "geneNCBI_id": 3373,
      "geneSymbol": "HYAL1",
      "hgvs": [
        "NM_153281.2:c.787C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_695013.1:p.Gln263Ter",
        "hgvsWellDefined": "NP_695013.1:p.Gln263_Trp435delinsHisArgValAlaGluAlaPheArgValAlaValAlaAlaGlyAspProAsnLeuProValLeuProTyrValGlnIlePheTyrAspThrThrAsnHisPheLeuProLeuAspGluLeuGluHisSerLeuGlyGluSerAlaAlaGlnGlyAlaAlaGlyValValLeuTrpValSerTrpGluAsnThrArgThrLysGluSerCysGlnAlaIleLysGluTyrMetAspThrThrLeuGlyProPheIleLeuAsnValThrSerGlyAlaLeuLeuCysSerGlnAlaLeuCysSerGlyHisGlyArgCysValArgArgThrSerHisProLysAlaLeuLeuLeuLeuAsnProAlaSerPheSerIleGlnLeuThrProGlyGlyGlyProLeuSerLeuArgGlyAlaLeuSerLeuGluAspGlnAlaGlnMetAlaValGluPheLysCysArgCysTyrProGlyTrpGlnAlaProTrpCysGluArgLysSerMetTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729464"
    }
  ],
  "type": "nucleotide"
}