{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA352897175", "communityStandardTitle": [ "NM_033159.4(HYAL1):c.133G>T (p.Glu45Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=631587[alleleid]", "alleleId": 631587, "preferredName": "NM_033159.4(HYAL1):c.133G>T (p.Glu45Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/643652", "RCV": [ "RCV000797408" ], "variationId": 643652 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr3:g.50340255C>A?assembly=hg19", "id": "chr3:g.50340255C>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr3:g.50302824C>A?assembly=hg38", "id": "chr3:g.50302824C>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1575517577", "rs": 1575517577 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/3-50302824-C-A?dataset=gnomad_r4", "id": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS276542" }, { "coordinates": [ { "allele": "T", "end": 312, "referenceAllele": "G", "start": 311 } ], "gene": "http://reg.genome.network/gene/GN005320", "geneNCBI_id": 3373, "geneSymbol": "HYAL1", "hgvs": [ "ENST00000395144.6:c.133G>T" ], "proteinEffect": { "hgvs": "ENSP00000378576.2:p.Glu45Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS276543" }, { "coordinates": [ { "allele": "T", "end": 390, "referenceAllele": "G", "start": 389 } ], "gene": "http://reg.genome.network/gene/GN005320", "geneNCBI_id": 3373, "geneSymbol": "HYAL1", "hgvs": [ "ENST00000418723.1:c.133G>T" ], "proteinEffect": { "hgvs": "ENSP00000394526.1:p.Glu45Ter", "hgvsWellDefined": "ENSP00000394526.1:p.Glu45Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS285541" }, { "coordinates": [ { "allele": "T", "end": 108, "endIntronDirection": "-", "endIntronOffset": 618, "referenceAllele": "G", "start": 108, "startIntronDirection": "-", "startIntronOffset": 619 } ], "gene": "http://reg.genome.network/gene/GN005320", "geneNCBI_id": 3373, "geneSymbol": "HYAL1", "hgvs": [ "ENST00000447605.2:c.-26-619G>T" ], "proteinEffect": { "hgvs": "ENSP00000390149.2:n.-26-619G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS299326" }, { "coordinates": [ { "allele": "T", "end": 486, 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"geneSymbol": "HYAL1", "hgvs": [ "ENST00000618175.4:c.133G>T" ], "proteinEffect": { "hgvs": "ENSP00000477903.1:p.Glu45Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS403824" }, { "@id": "http://reg.genome.network/allele/PA2830099411", "coordinates": [ { "allele": "T", "end": 293, "referenceAllele": "G", "start": 292 } ], "gene": "http://reg.genome.network/gene/GN005320", "geneNCBI_id": 3373, "geneSymbol": "HYAL1", "hgvs": [ "NM_033159.3:c.133G>T" ], "proteinEffect": { "hgvs": "NP_149349.2:p.Glu45Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS039572" }, { "@id": "http://reg.genome.network/allele/PA2830321090", "coordinates": [ { "allele": "T", "end": 560, "referenceAllele": "G", "start": 559 } ], "gene": "http://reg.genome.network/gene/GN005320", "geneNCBI_id": 3373, "geneSymbol": "HYAL1", "hgvs": [ "NM_153281.1:c.133G>T" ], "proteinEffect": { "hgvs": "NP_695013.1:p.Glu45Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS042329" }, { "@id": "http://reg.genome.network/allele/PA916054964", "coordinates": [ { "allele": "T", "end": 293, "referenceAllele": "G", "start": 292 } ], "gene": "http://reg.genome.network/gene/GN005320", "geneNCBI_id": 3373, "geneSymbol": "HYAL1", "hgvs": [ "NM_153282.2:c.133G>T" ], "proteinEffect": { "hgvs": "NP_695014.1:p.Glu45Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS042330" }, { "coordinates": [ { "allele": "T", "end": 136, "endIntronDirection": "-", "endIntronOffset": 200, "referenceAllele": "G", "start": 136, "startIntronDirection": "-", "startIntronOffset": 201 } ], "gene": "http://reg.genome.network/gene/GN005320", "geneNCBI_id": 3373, "geneSymbol": "HYAL1", "hgvs": [ "NM_153283.2:c.-213-201G>T" ], "proteinEffect": { "hgvs": "NP_695015.1:n.-213-201G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS042331" }, { "coordinates": [ { "allele": "T", "end": 136, "endIntronDirection": "-", "endIntronOffset": 618, "referenceAllele": "G", "start": 136, "startIntronDirection": "-", "startIntronOffset": 619 } ], "gene": "http://reg.genome.network/gene/GN005320", "geneNCBI_id": 3373, "geneSymbol": "HYAL1", "hgvs": [ "NM_153285.2:c.-26-619G>T" ], "proteinEffect": { "hgvs": "NP_695017.1:n.-26-619G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS042332" }, { "coordinates": [ { "allele": "T", "end": 778, "referenceAllele": "G", "start": 777 } ], "gene": "http://reg.genome.network/gene/GN005320", "geneNCBI_id": 3373, "geneSymbol": "HYAL1", "hgvs": [ "NR_047690.1:n.778G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS052122" }, { "coordinates": [ { "allele": "T", "end": 680, "referenceAllele": "G", "start": 679 } ], "gene": "http://reg.genome.network/gene/GN005320", "geneNCBI_id": 3373, "geneSymbol": "HYAL1", "hgvs": [ "XM_011533667.1:c.133G>T" ], "proteinEffect": { "hgvs": "XP_011531969.1:p.Glu45Ter", "hgvsWellDefined": "XP_011531969.1:p.Glu45_Trp435delinsArgHisGlyValAspValAspValSerValPheAspValValAlaAsnProGlyGlnThrPheArgGlyProAspMetThrIlePheTyrSerSerGlnLeuGlyThrTyrProTyrTyrThrProThrGlyGluProValPheGlyGlyLeuProGlnAsnAlaSerLeuIleAlaHisLeuAlaArgThrPheGlnAspIleLeuAlaAlaIleProAlaProAspPheSerGlyLeuAlaValIleAspTrpGluAlaTrpArgProArgTrpAlaPheAsnTrpAspThrLysAspIleTyrArgGlnArgSerArgAlaLeuValGlnAlaGlnHisProAspTrpProAlaProGlnValGluAlaValAlaGlnAspGlnPheGlnGlyAlaAlaArgAlaTrpMetAlaGlyThrLeuGlnLeuGlyArgAlaLeuArgProArgGlyLeuTrpGlyPheTyrGlyPheProAspCysTyrAsnTyrAspPheLeuSerProAsnTyrThrGlyGlnCysProSerGlyIleArgAlaGlnAsnAspGlnLeuGlyTrpLeuTrpGlyGlnSerArgAlaLeuTyrProSerIleTyrMetProAlaValLeuGluGlyThrGlyLysSerGlnMetTyrValGlnHisArgValAlaGluAlaPheArgValAlaValAlaAlaGlyAspProAsnLeuProValLeuProTyrValGlnIlePheTyrAspThrThrAsnHisPheLeuProLeuAspGluLeuGluHisSerLeuGlyGluSerAlaAlaGlnGlyAlaAlaGlyValValLeuTrpValSerTrpGluAsnThrArgThrLysGluSerCysGlnAlaIleLysGluTyrMetAspThrThrLeuGlyProPheIleLeuAsnValThrSerGlyAlaLeuLeuCysSerGlnAlaLeuCysSerGlyHisGlyArgCysValArgArgThrSerHisProLysAlaLeuLeuLeuLeuAsnProAlaSerPheSerIleGlnLeuThrProGlyGlyGlyProLeuSerLeuArgGlyAlaLeuSerLeuGluAspGlnAlaGlnMetAlaValGluPheLysCysArgCysTyrProGlyTrpGlnAlaProTrpCysGluArgLysSerMetTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS100688" }, { "coordinates": [ { "allele": "T", "end": 486, "referenceAllele": "G", "start": 485 } ], "gene": "http://reg.genome.network/gene/GN005320", "geneNCBI_id": 3373, "geneSymbol": "HYAL1", "hgvs": [ "XM_011533668.1:c.133G>T" ], "proteinEffect": { "hgvs": "XP_011531970.1:p.Glu45Ter", "hgvsWellDefined": "XP_011531970.1:p.Glu45_Trp435delinsArgHisGlyValAspValAspValSerValPheAspValValAlaAsnProGlyGlnThrPheArgGlyProAspMetThrIlePheTyrSerSerGlnLeuGlyThrTyrProTyrTyrThrProThrGlyGluProValPheGlyGlyLeuProGlnAsnAlaSerLeuIleAlaHisLeuAlaArgThrPheGlnAspIleLeuAlaAlaIleProAlaProAspPheSerGlyLeuAlaValIleAspTrpGluAlaTrpArgProArgTrpAlaPheAsnTrpAspThrLysAspIleTyrArgGlnArgSerArgAlaLeuValGlnAlaGlnHisProAspTrpProAlaProGlnValGluAlaValAlaGlnAspGlnPheGlnGlyAlaAlaArgAlaTrpMetAlaGlyThrLeuGlnLeuGlyArgAlaLeuArgProArgGlyLeuTrpGlyPheTyrGlyPheProAspCysTyrAsnTyrAspPheLeuSerProAsnTyrThrGlyGlnCysProSerGlyIleArgAlaGlnAsnAspGlnLeuGlyTrpLeuTrpGlyGlnSerArgAlaLeuTyrProSerIleTyrMetProAlaValLeuGluGlyThrGlyLysSerGlnMetTyrValGlnHisArgValAlaGluAlaPheArgValAlaValAlaAlaGlyAspProAsnLeuProValLeuProTyrValGlnIlePheTyrAspThrThrAsnHisPheLeuProLeuAspGluLeuGluHisSerLeuGlyGluSerAlaAlaGlnGlyAlaAlaGlyValValLeuTrpValSerTrpGluAsnThrArgThrLysGluSerCysGlnAlaIleLysGluTyrMetAspThrThrLeuGlyProPheIleLeuAsnValThrSerGlyAlaLeuLeuCysSerGlnAlaLeuCysSerGlyHisGlyArgCysValArgArgThrSerHisProLysAlaLeuLeuLeuLeuAsnProAlaSerPheSerIleGlnLeuThrProGlyGlyGlyProLeuSerLeuArgGlyAlaLeuSerLeuGluAspGlnAlaGlnMetAlaValGluPheLysCysArgCysTyrProGlyTrpGlnAlaProTrpCysGluArgLysSerMetTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS100689" }, { "coordinates": [ { "allele": "T", "end": 439, "referenceAllele": "G", "start": 438 } ], "gene": "http://reg.genome.network/gene/GN005320", "geneNCBI_id": 3373, "geneSymbol": "HYAL1", "hgvs": [ "XM_011533669.1:c.133G>T" ], "proteinEffect": { "hgvs": "XP_011531971.1:p.Glu45Ter", "hgvsWellDefined": "XP_011531971.1:p.Glu45_Trp435delinsArgHisGlyValAspValAspValSerValPheAspValValAlaAsnProGlyGlnThrPheArgGlyProAspMetThrIlePheTyrSerSerGlnLeuGlyThrTyrProTyrTyrThrProThrGlyGluProValPheGlyGlyLeuProGlnAsnAlaSerLeuIleAlaHisLeuAlaArgThrPheGlnAspIleLeuAlaAlaIleProAlaProAspPheSerGlyLeuAlaValIleAspTrpGluAlaTrpArgProArgTrpAlaPheAsnTrpAspThrLysAspIleTyrArgGlnArgSerArgAlaLeuValGlnAlaGlnHisProAspTrpProAlaProGlnValGluAlaValAlaGlnAspGlnPheGlnGlyAlaAlaArgAlaTrpMetAlaGlyThrLeuGlnLeuGlyArgAlaLeuArgProArgGlyLeuTrpGlyPheTyrGlyPheProAspCysTyrAsnTyrAspPheLeuSerProAsnTyrThrGlyGlnCysProSerGlyIleArgAlaGlnAsnAspGlnLeuGlyTrpLeuTrpGlyGlnSerArgAlaLeuTyrProSerIleTyrMetProAlaValLeuGluGlyThrGlyLysSerGlnMetTyrValGlnHisArgValAlaGluAlaPheArgValAlaValAlaAlaGlyAspProAsnLeuProValLeuProTyrValGlnIlePheTyrAspThrThrAsnHisPheLeuProLeuAspGluLeuGluHisSerLeuGlyGluSerAlaAlaGlnGlyAlaAlaGlyValValLeuTrpValSerTrpGluAsnThrArgThrLysGluSerCysGlnAlaIleLysGluTyrMetAspThrThrLeuGlyProPheIleLeuAsnValThrSerGlyAlaLeuLeuCysSerGlnAlaLeuCysSerGlyHisGlyArgCysValArgArgThrSerHisProLysAlaLeuLeuLeuLeuAsnProAlaSerPheSerIleGlnLeuThrProGlyGlyGlyProLeuSerLeuArgGlyAlaLeuSerLeuGluAspGlnAlaGlnMetAlaValGluPheLysCysArgCysTyrProGlyTrpGlnAlaProTrpCysGluArgLysSerMetTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS100690" }, { "coordinates": [ { "allele": "T", "end": 683, "referenceAllele": "G", "start": 682 } ], "gene": "http://reg.genome.network/gene/GN005320", "geneNCBI_id": 3373, "geneSymbol": "HYAL1", "hgvs": [ "XM_011533667.2:c.133G>T" ], "proteinEffect": { "hgvs": "XP_011531969.1:p.Glu45Ter", "hgvsWellDefined": "XP_011531969.1:p.Glu45_Trp435delinsArgHisGlyValAspValAspValSerValPheAspValValAlaAsnProGlyGlnThrPheArgGlyProAspMetThrIlePheTyrSerSerGlnLeuGlyThrTyrProTyrTyrThrProThrGlyGluProValPheGlyGlyLeuProGlnAsnAlaSerLeuIleAlaHisLeuAlaArgThrPheGlnAspIleLeuAlaAlaIleProAlaProAspPheSerGlyLeuAlaValIleAspTrpGluAlaTrpArgProArgTrpAlaPheAsnTrpAspThrLysAspIleTyrArgGlnArgSerArgAlaLeuValGlnAlaGlnHisProAspTrpProAlaProGlnValGluAlaValAlaGlnAspGlnPheGlnGlyAlaAlaArgAlaTrpMetAlaGlyThrLeuGlnLeuGlyArgAlaLeuArgProArgGlyLeuTrpGlyPheTyrGlyPheProAspCysTyrAsnTyrAspPheLeuSerProAsnTyrThrGlyGlnCysProSerGlyIleArgAlaGlnAsnAspGlnLeuGlyTrpLeuTrpGlyGlnSerArgAlaLeuTyrProSerIleTyrMetProAlaValLeuGluGlyThrGlyLysSerGlnMetTyrValGlnHisArgValAlaGluAlaPheArgValAlaValAlaAlaGlyAspProAsnLeuProValLeuProTyrValGlnIlePheTyrAspThrThrAsnHisPheLeuProLeuAspGluLeuGluHisSerLeuGlyGluSerAlaAlaGlnGlyAlaAlaGlyValValLeuTrpValSerTrpGluAsnThrArgThrLysGluSerCysGlnAlaIleLysGluTyrMetAspThrThrLeuGlyProPheIleLeuAsnValThrSerGlyAlaLeuLeuCysSerGlnAlaLeuCysSerGlyHisGlyArgCysValArgArgThrSerHisProLysAlaLeuLeuLeuLeuAsnProAlaSerPheSerIleGlnLeuThrProGlyGlyGlyProLeuSerLeuArgGlyAlaLeuSerLeuGluAspGlnAlaGlnMetAlaValGluPheLysCysArgCysTyrProGlyTrpGlnAlaProTrpCysGluArgLysSerMetTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS551332" }, { "coordinates": [ { "allele": "T", "end": 574, "referenceAllele": "G", "start": 573 } ], "gene": "http://reg.genome.network/gene/GN005320", "geneNCBI_id": 3373, "geneSymbol": "HYAL1", "hgvs": [ "XM_011533668.2:c.133G>T" ], "proteinEffect": { "hgvs": "XP_011531970.1:p.Glu45Ter", "hgvsWellDefined": "XP_011531970.1:p.Glu45_Trp435delinsArgHisGlyValAspValAspValSerValPheAspValValAlaAsnProGlyGlnThrPheArgGlyProAspMetThrIlePheTyrSerSerGlnLeuGlyThrTyrProTyrTyrThrProThrGlyGluProValPheGlyGlyLeuProGlnAsnAlaSerLeuIleAlaHisLeuAlaArgThrPheGlnAspIleLeuAlaAlaIleProAlaProAspPheSerGlyLeuAlaValIleAspTrpGluAlaTrpArgProArgTrpAlaPheAsnTrpAspThrLysAspIleTyrArgGlnArgSerArgAlaLeuValGlnAlaGlnHisProAspTrpProAlaProGlnValGluAlaValAlaGlnAspGlnPheGlnGlyAlaAlaArgAlaTrpMetAlaGlyThrLeuGlnLeuGlyArgAlaLeuArgProArgGlyLeuTrpGlyPheTyrGlyPheProAspCysTyrAsnTyrAspPheLeuSerProAsnTyrThrGlyGlnCysProSerGlyIleArgAlaGlnAsnAspGlnLeuGlyTrpLeuTrpGlyGlnSerArgAlaLeuTyrProSerIleTyrMetProAlaValLeuGluGlyThrGlyLysSerGlnMetTyrValGlnHisArgValAlaGluAlaPheArgValAlaValAlaAlaGlyAspProAsnLeuProValLeuProTyrValGlnIlePheTyrAspThrThrAsnHisPheLeuProLeuAspGluLeuGluHisSerLeuGlyGluSerAlaAlaGlnGlyAlaAlaGlyValValLeuTrpValSerTrpGluAsnThrArgThrLysGluSerCysGlnAlaIleLysGluTyrMetAspThrThrLeuGlyProPheIleLeuAsnValThrSerGlyAlaLeuLeuCysSerGlnAlaLeuCysSerGlyHisGlyArgCysValArgArgThrSerHisProLysAlaLeuLeuLeuLeuAsnProAlaSerPheSerIleGlnLeuThrProGlyGlyGlyProLeuSerLeuArgGlyAlaLeuSerLeuGluAspGlnAlaGlnMetAlaValGluPheLysCysArgCysTyrProGlyTrpGlnAlaProTrpCysGluArgLysSerMetTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS551333" }, { "coordinates": [ { "allele": "T", "end": 971, "referenceAllele": "G", "start": 970 } ], "gene": "http://reg.genome.network/gene/GN005320", "geneNCBI_id": 3373, "geneSymbol": "HYAL1", "hgvs": [ "XM_011533669.2:c.133G>T" ], "proteinEffect": { "hgvs": "XP_011531971.1:p.Glu45Ter", "hgvsWellDefined": "XP_011531971.1:p.Glu45_Trp435delinsArgHisGlyValAspValAspValSerValPheAspValValAlaAsnProGlyGlnThrPheArgGlyProAspMetThrIlePheTyrSerSerGlnLeuGlyThrTyrProTyrTyrThrProThrGlyGluProValPheGlyGlyLeuProGlnAsnAlaSerLeuIleAlaHisLeuAlaArgThrPheGlnAspIleLeuAlaAlaIleProAlaProAspPheSerGlyLeuAlaValIleAspTrpGluAlaTrpArgProArgTrpAlaPheAsnTrpAspThrLysAspIleTyrArgGlnArgSerArgAlaLeuValGlnAlaGlnHisProAspTrpProAlaProGlnValGluAlaValAlaGlnAspGlnPheGlnGlyAlaAlaArgAlaTrpMetAlaGlyThrLeuGlnLeuGlyArgAlaLeuArgProArgGlyLeuTrpGlyPheTyrGlyPheProAspCysTyrAsnTyrAspPheLeuSerProAsnTyrThrGlyGlnCysProSerGlyIleArgAlaGlnAsnAspGlnLeuGlyTrpLeuTrpGlyGlnSerArgAlaLeuTyrProSerIleTyrMetProAlaValLeuGluGlyThrGlyLysSerGlnMetTyrValGlnHisArgValAlaGluAlaPheArgValAlaValAlaAlaGlyAspProAsnLeuProValLeuProTyrValGlnIlePheTyrAspThrThrAsnHisPheLeuProLeuAspGluLeuGluHisSerLeuGlyGluSerAlaAlaGlnGlyAlaAlaGlyValValLeuTrpValSerTrpGluAsnThrArgThrLysGluSerCysGlnAlaIleLysGluTyrMetAspThrThrLeuGlyProPheIleLeuAsnValThrSerGlyAlaLeuLeuCysSerGlnAlaLeuCysSerGlyHisGlyArgCysValArgArgThrSerHisProLysAlaLeuLeuLeuLeuAsnProAlaSerPheSerIleGlnLeuThrProGlyGlyGlyProLeuSerLeuArgGlyAlaLeuSerLeuGluAspGlnAlaGlnMetAlaValGluPheLysCysArgCysTyrProGlyTrpGlnAlaProTrpCysGluArgLysSerMetTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS551334" }, { "@id": "http://reg.genome.network/allele/PA2830099411", "coordinates": [ { "allele": "T", "end": 266, "referenceAllele": "G", "start": 265 } ], "gene": "http://reg.genome.network/gene/GN005320", "geneNCBI_id": 3373, "geneSymbol": "HYAL1", "hgvs": [ "NM_033159.4:c.133G>T" ], "proteinEffect": { "hgvs": "NP_149349.2:p.Glu45Ter", "hgvsWellDefined": "NP_149349.2:p.Glu45_Trp435delinsArgHisGlyValAspValAspValSerValPheAspValValAlaAsnProGlyGlnThrPheArgGlyProAspMetThrIlePheTyrSerSerGlnLeuGlyThrTyrProTyrTyrThrProThrGlyGluProValPheGlyGlyLeuProGlnAsnAlaSerLeuIleAlaHisLeuAlaArgThrPheGlnAspIleLeuAlaAlaIleProAlaProAspPheSerGlyLeuAlaValIleAspTrpGluAlaTrpArgProArgTrpAlaPheAsnTrpAspThrLysAspIleTyrArgGlnArgSerArgAlaLeuValGlnAlaGlnHisProAspTrpProAlaProGlnValGluAlaValAlaGlnAspGlnPheGlnGlyAlaAlaArgAlaTrpMetAlaGlyThrLeuGlnLeuGlyArgAlaLeuArgProArgGlyLeuTrpGlyPheTyrGlyPheProAspCysTyrAsnTyrAspPheLeuSerProAsnTyrThrGlyGlnCysProSerGlyIleArgAlaGlnAsnAspGlnLeuGlyTrpLeuTrpGlyGlnSerArgAlaLeuTyrProSerIleTyrMetProAlaValLeuGluGlyThrGlyLysSerGlnMetTyrValGlnHisArgValAlaGluAlaPheArgValAlaValAlaAlaGlyAspProAsnLeuProValLeuProTyrValGlnIlePheTyrAspThrThrAsnHisPheLeuProLeuAspGluLeuGluHisSerLeuGlyGluSerAlaAlaGlnGlyAlaAlaGlyValValLeuTrpValSerTrpGluAsnThrArgThrLysGluSerCysGlnAlaIleLysGluTyrMetAspThrThrLeuGlyProPheIleLeuAsnValThrSerGlyAlaLeuLeuCysSerGlnAlaLeuCysSerGlyHisGlyArgCysValArgArgThrSerHisProLysAlaLeuLeuLeuLeuAsnProAlaSerPheSerIleGlnLeuThrProGlyGlyGlyProLeuSerLeuArgGlyAlaLeuSerLeuGluAspGlnAlaGlnMetAlaValGluPheLysCysArgCysTyrProGlyTrpGlnAlaProTrpCysGluArgLysSerMetTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS671514", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000395144.7:c.133G>T" }, "RefSeq": { "hgvs": "NM_033159.4:c.133G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000378576.2:p.Glu45Ter" }, "RefSeq": { "hgvs": "NP_149349.2:p.Glu45Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA916054964", "coordinates": [ { "allele": "T", "end": 266, "referenceAllele": "G", "start": 265 } ], "gene": "http://reg.genome.network/gene/GN005320", "geneNCBI_id": 3373, "geneSymbol": "HYAL1", "hgvs": [ "NM_153282.3:c.133G>T" ], "proteinEffect": { "hgvs": "NP_695014.1:p.Glu45Ter", "hgvsWellDefined": "NP_695014.1:p.Glu45_Trp405delinsArgHisGlyValAspValAspValSerValPheAspValValAlaAsnProGlyGlnThrPheArgGlyProAspMetThrIlePheTyrSerSerGlnLeuGlyThrTyrProTyrTyrThrProThrGlyGluProValPheGlyGlyLeuProGlnAsnAlaSerLeuIleAlaHisLeuAlaArgThrPheGlnAspIleLeuAlaAlaIleProAlaProAspPheSerGlyLeuAlaValIleAspTrpGluAlaTrpArgProArgTrpAlaPheAsnTrpAspThrLysAspIleTyrArgGlnArgSerArgAlaLeuValGlnAlaGlnHisProAspTrpProAlaProGlnValGluAlaValAlaGlnAspGlnPheGlnGlyAlaAlaArgAlaTrpMetAlaGlyThrLeuGlnLeuGlyArgAlaLeuArgProArgGlyLeuTrpGlyPheTyrGlyPheProAspCysTyrAsnTyrAspPheLeuSerProAsnTyrThrGlyGlnCysProSerGlyIleArgAlaGlnAsnAspGlnLeuGlyTrpLeuTrpGlyGlnSerArgAlaLeuTyrProSerIleTyrMetProAlaValLeuGluGlyThrGlyLysSerGlnMetTyrValGlnHisArgValAlaGluAlaPheArgValAlaValAlaAlaGlyAspProAsnLeuProValLeuProTyrValGlnIlePheTyrAspThrThrAsnHisPheLeuProLeuGluSerCysGlnAlaIleLysGluTyrMetAspThrThrLeuGlyProPheIleLeuAsnValThrSerGlyAlaLeuLeuCysSerGlnAlaLeuCysSerGlyHisGlyArgCysValArgArgThrSerHisProLysAlaLeuLeuLeuLeuAsnProAlaSerPheSerIleGlnLeuThrProGlyGlyGlyProLeuSerLeuArgGlyAlaLeuSerLeuGluAspGlnAlaGlnMetAlaValGluPheLysCysArgCysTyrProGlyTrpGlnAlaProTrpCysGluArgLysSerMetTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS700337" }, { "coordinates": [ { "allele": "T", "end": 109, "endIntronDirection": "-", "endIntronOffset": 200, "referenceAllele": "G", "start": 109, "startIntronDirection": "-", "startIntronOffset": 201 } ], "gene": "http://reg.genome.network/gene/GN005320", "geneNCBI_id": 3373, "geneSymbol": "HYAL1", "hgvs": [ "NM_153283.3:c.-213-201G>T" ], "proteinEffect": { "hgvs": "NP_695015.1:n.-213-201G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS700338" }, { "coordinates": [ { "allele": "T", "end": 109, "endIntronDirection": "-", "endIntronOffset": 618, "referenceAllele": "G", "start": 109, "startIntronDirection": "-", "startIntronOffset": 619 } ], "gene": "http://reg.genome.network/gene/GN005320", "geneNCBI_id": 3373, "geneSymbol": "HYAL1", "hgvs": [ "NM_153285.3:c.-26-619G>T" ], "proteinEffect": { "hgvs": "NP_695017.1:n.-26-619G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS700339" }, { "coordinates": [ { "allele": "T", "end": 751, "referenceAllele": "G", "start": 750 } ], "gene": "http://reg.genome.network/gene/GN005320", "geneNCBI_id": 3373, "geneSymbol": "HYAL1", "hgvs": [ "NR_047690.2:n.751G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS702541" }, { "@id": "http://reg.genome.network/allele/PA2830321090", "coordinates": [ { "allele": "T", "end": 560, "referenceAllele": "G", "start": 559 } ], "gene": "http://reg.genome.network/gene/GN005320", "geneNCBI_id": 3373, "geneSymbol": "HYAL1", "hgvs": [ "NM_153281.2:c.133G>T" ], "proteinEffect": { "hgvs": "NP_695013.1:p.Glu45Ter", "hgvsWellDefined": "NP_695013.1:p.Glu45_Trp435delinsArgHisGlyValAspValAspValSerValPheAspValValAlaAsnProGlyGlnThrPheArgGlyProAspMetThrIlePheTyrSerSerGlnLeuGlyThrTyrProTyrTyrThrProThrGlyGluProValPheGlyGlyLeuProGlnAsnAlaSerLeuIleAlaHisLeuAlaArgThrPheGlnAspIleLeuAlaAlaIleProAlaProAspPheSerGlyLeuAlaValIleAspTrpGluAlaTrpArgProArgTrpAlaPheAsnTrpAspThrLysAspIleTyrArgGlnArgSerArgAlaLeuValGlnAlaGlnHisProAspTrpProAlaProGlnValGluAlaValAlaGlnAspGlnPheGlnGlyAlaAlaArgAlaTrpMetAlaGlyThrLeuGlnLeuGlyArgAlaLeuArgProArgGlyLeuTrpGlyPheTyrGlyPheProAspCysTyrAsnTyrAspPheLeuSerProAsnTyrThrGlyGlnCysProSerGlyIleArgAlaGlnAsnAspGlnLeuGlyTrpLeuTrpGlyGlnSerArgAlaLeuTyrProSerIleTyrMetProAlaValLeuGluGlyThrGlyLysSerGlnMetTyrValGlnHisArgValAlaGluAlaPheArgValAlaValAlaAlaGlyAspProAsnLeuProValLeuProTyrValGlnIlePheTyrAspThrThrAsnHisPheLeuProLeuAspGluLeuGluHisSerLeuGlyGluSerAlaAlaGlnGlyAlaAlaGlyValValLeuTrpValSerTrpGluAsnThrArgThrLysGluSerCysGlnAlaIleLysGluTyrMetAspThrThrLeuGlyProPheIleLeuAsnValThrSerGlyAlaLeuLeuCysSerGlnAlaLeuCysSerGlyHisGlyArgCysValArgArgThrSerHisProLysAlaLeuLeuLeuLeuAsnProAlaSerPheSerIleGlnLeuThrProGlyGlyGlyProLeuSerLeuArgGlyAlaLeuSerLeuGluAspGlnAlaGlnMetAlaValGluPheLysCysArgCysTyrProGlyTrpGlnAlaProTrpCysGluArgLysSerMetTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS729464" } ], "type": "nucleotide" }