{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA397097513", "communityStandardTitle": [ "NM_000512.5(GALNS):c.1215G>A (p.Trp405Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1036164[alleleid]", "alleleId": 1036164, "preferredName": "NM_000512.5(GALNS):c.1215G>A (p.Trp405Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1048347", "RCV": [ "RCV001578449" ], "variationId": 1048347 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.88891202C>T?assembly=hg19", "id": "chr16:g.88891202C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.88824794C>T?assembly=hg38", "id": "chr16:g.88824794C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2142993793", "rs": 2142993793 } ] }, "genomicAlleles": [ { "chromosome": "16", "coordinates": [ { "allele": "T", "end": 88824794, "referenceAllele": "C", "start": 88824793 } ], "hgvs": [ "NC_000016.10:g.88824794C>T", "CM000678.2:g.88824794C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000064" }, { "chromosome": "16", "coordinates": [ { "allele": "T", "end": 88891202, "referenceAllele": "C", "start": 88891201 } ], "hgvs": [ "NC_000016.9:g.88891202C>T", "CM000678.1:g.88891202C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000040" }, { "chromosome": "16", "coordinates": [ { "allele": "T", "end": 87418703, "referenceAllele": "C", "start": 87418702 } ], "hgvs": [ "NC_000016.8:g.87418703C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000016" }, { "coordinates": [ { "allele": "A", "end": 37173, "referenceAllele": "G", "start": 37172 } ], "hgvs": [ "NG_008667.1:g.37173G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001157" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1285, "referenceAllele": "G", "start": 1284 } ], "gene": "http://reg.genome.network/gene/GN004122", "geneNCBI_id": 2588, "geneSymbol": "GALNS", "hgvs": [ "ENST00000268695.10:c.1215G>A" ], "proteinEffect": { "hgvs": "ENSP00000268695.5:p.Trp405Ter", "hgvsWellDefined": "ENSP00000268695.5:p.Trp405_His522delinsThrAsnSerTrpGluAsnPheArgGlnGlyIleAspPheCysProGlyGlnAsnValSerGlyValThrThrHisAsnLeuGluAspHisThrLysLeuProLeuIlePheHisLeuGlyArgAspProGlyGluArgPheProLeuSerPheAlaSerAlaGluTyrGlnGluAlaLeuSerArgIleThrSerValValGlnGlnHisGlnGluAlaLeuValProAlaGlnProGlnLeuAsnValCysAsnTrpAlaValMetAsnTrpAlaProProGlyCysGluLysLeuGlyLysCysLeuThrProProGluSerIleProLysLysCysLeuTrpSerHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS743065", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000268695.10:c.1215G>A" }, "RefSeq": { "hgvs": "NM_000512.5:c.1215G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000268695.5:p.Trp405Ter" }, "RefSeq": { "hgvs": "NP_000503.1:p.Trp405Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 1304, "referenceAllele": "G", "start": 1303 } ], "gene": "http://reg.genome.network/gene/GN004122", "geneNCBI_id": 2588, "geneSymbol": "GALNS", "hgvs": [ "ENST00000268695.9:c.1215G>A" ], "proteinEffect": { "hgvs": "ENSP00000268695.5:p.Trp405Ter", "hgvsWellDefined": "ENSP00000268695.5:p.Trp405_His522delinsThrAsnSerTrpGluAsnPheArgGlnGlyIleAspPheCysProGlyGlnAsnValSerGlyValThrThrHisAsnLeuGluAspHisThrLysLeuProLeuIlePheHisLeuGlyArgAspProGlyGluArgPheProLeuSerPheAlaSerAlaGluTyrGlnGluAlaLeuSerArgIleThrSerValValGlnGlnHisGlnGluAlaLeuValProAlaGlnProGlnLeuAsnValCysAsnTrpAlaValMetAsnTrpAlaProProGlyCysGluLysLeuGlyLysCysLeuThrProProGluSerIleProLysLysCysLeuTrpSerHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS252095" }, { "coordinates": [ { "allele": "A", "end": 4624, "referenceAllele": "G", "start": 4623 } ], "gene": "http://reg.genome.network/gene/GN004122", "geneNCBI_id": 2588, "geneSymbol": "GALNS", "hgvs": [ "ENST00000562593.5:n.4624G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS376891" }, { "coordinates": [ { "allele": "A", "end": 491, "referenceAllele": "G", "start": 490 } ], "gene": "http://reg.genome.network/gene/GN004122", "geneNCBI_id": 2588, "geneSymbol": "GALNS", "hgvs": [ "ENST00000564263.1:n.491G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS377974" }, { "coordinates": [ { "allele": "A", "end": 896, "referenceAllele": "G", "start": 895 } ], "gene": "http://reg.genome.network/gene/GN004122", "geneNCBI_id": 2588, "geneSymbol": "GALNS", "hgvs": [ "ENST00000567525.5:c.896G>A" ], "proteinEffect": { "hgvs": "ENSP00000454484.1:n.896G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS380166" }, { "coordinates": [ { "allele": "A", "end": 1334, "referenceAllele": "G", "start": 1333 } ], "gene": "http://reg.genome.network/gene/GN004122", "geneNCBI_id": 2588, "geneSymbol": "GALNS", "hgvs": [ "ENST00000568613.5:c.1334G>A" ], "proteinEffect": { "hgvs": "ENSP00000457921.1:n.1334G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS380908" }, { "@id": "http://reg.genome.network/allele/PA2825204832", "coordinates": [ { "allele": "A", "end": 1304, "referenceAllele": "G", "start": 1303 } ], "gene": "http://reg.genome.network/gene/GN004122", "geneNCBI_id": 2588, "geneSymbol": "GALNS", "hgvs": [ "NM_000512.4:c.1215G>A" ], "proteinEffect": { "hgvs": "NP_000503.1:p.Trp405Ter", "hgvsWellDefined": "NP_000503.1:p.Trp405_His522delinsThrAsnSerTrpGluAsnPheArgGlnGlyIleAspPheCysProGlyGlnAsnValSerGlyValThrThrHisAsnLeuGluAspHisThrLysLeuProLeuIlePheHisLeuGlyArgAspProGlyGluArgPheProLeuSerPheAlaSerAlaGluTyrGlnGluAlaLeuSerArgIleThrSerValValGlnGlnHisGlnGluAlaLeuValProAlaGlnProGlnLeuAsnValCysAsnTrpAlaValMetAsnTrpAlaProProGlyCysGluLysLeuGlyLysCysLeuThrProProGluSerIleProLysLysCysLeuTrpSerHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006568" }, { "coordinates": [ { "allele": "A", "end": 1304, "referenceAllele": "G", "start": 1303 } ], "gene": "http://reg.genome.network/gene/GN004122", "geneNCBI_id": 2588, "geneSymbol": "GALNS", "hgvs": [ "XM_005256301.2:c.1215G>A" ], "proteinEffect": { "hgvs": "XP_005256358.1:p.Trp405Ter", "hgvsWellDefined": "XP_005256358.1:p.Trp405_Pro575delinsThrAsnSerTrpGluAsnPheArgGlnGlyIleAspPheCysProGlyGlnAsnValSerGlyValThrThrHisAsnLeuGluAspHisThrLysLeuProLeuIlePheHisLeuGlyArgAspProGlyGluArgPheProLeuSerPheAlaSerAlaGluTyrGlnGluAlaLeuSerArgIleThrSerValValGlnGlnHisGlnGluAlaLeuValProAlaGlnProGlnLeuAsnValCysAsnTrpAlaValMetAlaProThrGlnSerSerThrSerValGlnProAspLysThrArgProCysSerProProValGluLysArgProHisHisAlaSerIleGlyGlnLysHisLysHisArgArgAlaSerLysValSerLeuLysSerValPheArgProGlnArgMetArgArgArgLeuValGlnProTrpGlyProGlnGlnSerGlyProLeuArgSerSerPheSerValProCysLeuGlyValProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS061259" }, { "coordinates": [ { "allele": "A", "end": 1350, "referenceAllele": "G", "start": 1349 } ], "gene": "http://reg.genome.network/gene/GN004122", "geneNCBI_id": 2588, "geneSymbol": "GALNS", "hgvs": [ "XM_005256302.1:c.1233G>A" ], "proteinEffect": { "hgvs": "XP_005256359.1:p.Trp411Ter", "hgvsWellDefined": "XP_005256359.1:p.Trp411_His528delinsThrAsnSerTrpGluAsnPheArgGlnGlyIleAspPheCysProGlyGlnAsnValSerGlyValThrThrHisAsnLeuGluAspHisThrLysLeuProLeuIlePheHisLeuGlyArgAspProGlyGluArgPheProLeuSerPheAlaSerAlaGluTyrGlnGluAlaLeuSerArgIleThrSerValValGlnGlnHisGlnGluAlaLeuValProAlaGlnProGlnLeuAsnValCysAsnTrpAlaValMetAsnTrpAlaProProGlyCysGluLysLeuGlyLysCysLeuThrProProGluSerIleProLysLysCysLeuTrpSerHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS061260" }, { "coordinates": [ { "allele": "A", "end": 1350, "referenceAllele": "G", "start": 1349 } ], "gene": "http://reg.genome.network/gene/GN004122", "geneNCBI_id": 2588, "geneSymbol": "GALNS", "hgvs": [ "XM_011522982.1:c.1233G>A" ], "proteinEffect": { "hgvs": "XP_011521284.1:p.Trp411Ter", "hgvsWellDefined": "XP_011521284.1:p.Trp411_Pro581delinsThrAsnSerTrpGluAsnPheArgGlnGlyIleAspPheCysProGlyGlnAsnValSerGlyValThrThrHisAsnLeuGluAspHisThrLysLeuProLeuIlePheHisLeuGlyArgAspProGlyGluArgPheProLeuSerPheAlaSerAlaGluTyrGlnGluAlaLeuSerArgIleThrSerValValGlnGlnHisGlnGluAlaLeuValProAlaGlnProGlnLeuAsnValCysAsnTrpAlaValMetAlaProThrGlnSerSerThrSerValGlnProAspLysThrArgProCysSerProProValGluLysArgProHisHisAlaSerIleGlyGlnLysHisLysHisArgArgAlaSerLysValSerLeuLysSerValPheArgProGlnArgMetArgArgArgLeuValGlnProTrpGlyProGlnGlnSerGlyProLeuArgSerSerPheSerValProCysLeuGlyValProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS090123" }, { "coordinates": [ { "allele": "A", "end": 1350, "referenceAllele": "G", "start": 1349 } ], "gene": "http://reg.genome.network/gene/GN004122", "geneNCBI_id": 2588, "geneSymbol": "GALNS", "hgvs": [ "XM_011522984.1:c.1233G>A" ], "proteinEffect": { "hgvs": "XP_011521286.1:p.Trp411Ter", "hgvsWellDefined": "XP_011521286.1:p.Trp411_Thr508delinsThrAsnSerTrpGluAsnPheArgGlnGlyIleAspPheCysProGlyGlnAsnValSerGlyValThrThrHisAsnLeuGluAspHisThrLysLeuProLeuIlePheHisLeuGlyArgAspProGlyGluArgPheProLeuSerPheAlaSerAlaGluTyrGlnGluAlaLeuSerArgIleThrSerValValGlnGlnHisGlnGluAlaLeuValProAlaGlnProGlnLeuAsnValCysAsnTrpAlaValMetProGlnArgProSerHisGlnThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS090124" }, { "@id": "http://reg.genome.network/allele/PA2827194072", "coordinates": [ { "allele": "A", "end": 1184, "referenceAllele": "G", "start": 1183 } ], "gene": "http://reg.genome.network/gene/GN004122", "geneNCBI_id": 2588, "geneSymbol": "GALNS", "hgvs": [ "NM_001323543.1:c.660G>A" ], "proteinEffect": { "hgvs": "NP_001310472.1:p.Trp220Ter", "hgvsWellDefined": "NP_001310472.1:p.Trp220_His337delinsThrAsnSerTrpGluAsnPheArgGlnGlyIleAspPheCysProGlyGlnAsnValSerGlyValThrThrHisAsnLeuGluAspHisThrLysLeuProLeuIlePheHisLeuGlyArgAspProGlyGluArgPheProLeuSerPheAlaSerAlaGluTyrGlnGluAlaLeuSerArgIleThrSerValValGlnGlnHisGlnGluAlaLeuValProAlaGlnProGlnLeuAsnValCysAsnTrpAlaValMetAsnTrpAlaProProGlyCysGluLysLeuGlyLysCysLeuThrProProGluSerIleProLysLysCysLeuTrpSerHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS515441" }, { "@id": "http://reg.genome.network/allele/PA2499249196", "coordinates": [ { "allele": "A", "end": 1478, "referenceAllele": "G", "start": 1477 } ], "gene": "http://reg.genome.network/gene/GN004122", "geneNCBI_id": 2588, "geneSymbol": "GALNS", "hgvs": [ "NM_001323544.1:c.1233G>A" ], "proteinEffect": { "hgvs": "NP_001310473.1:p.Trp411Ter", "hgvsWellDefined": "NP_001310473.1:p.Trp411_His528delinsThrAsnSerTrpGluAsnPheArgGlnGlyIleAspPheCysProGlyGlnAsnValSerGlyValThrThrHisAsnLeuGluAspHisThrLysLeuProLeuIlePheHisLeuGlyArgAspProGlyGluArgPheProLeuSerPheAlaSerAlaGluTyrGlnGluAlaLeuSerArgIleThrSerValValGlnGlnHisGlnGluAlaLeuValProAlaGlnProGlnLeuAsnValCysAsnTrpAlaValMetAsnTrpAlaProProGlyCysGluLysLeuGlyLysCysLeuThrProProGluSerIleProLysLysCysLeuTrpSerHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS515442" }, { "coordinates": [ { "allele": "A", "end": 1304, "referenceAllele": "G", "start": 1303 } ], "gene": "http://reg.genome.network/gene/GN004122", "geneNCBI_id": 2588, "geneSymbol": "GALNS", "hgvs": [ "XM_005256301.3:c.1215G>A" ], "proteinEffect": { "hgvs": "XP_005256358.1:p.Trp405Ter", "hgvsWellDefined": "XP_005256358.1:p.Trp405_Pro575delinsThrAsnSerTrpGluAsnPheArgGlnGlyIleAspPheCysProGlyGlnAsnValSerGlyValThrThrHisAsnLeuGluAspHisThrLysLeuProLeuIlePheHisLeuGlyArgAspProGlyGluArgPheProLeuSerPheAlaSerAlaGluTyrGlnGluAlaLeuSerArgIleThrSerValValGlnGlnHisGlnGluAlaLeuValProAlaGlnProGlnLeuAsnValCysAsnTrpAlaValMetAlaProThrGlnSerSerThrSerValGlnProAspLysThrArgProCysSerProProValGluLysArgProHisHisAlaSerIleGlyGlnLysHisLysHisArgArgAlaSerLysValSerLeuLysSerValPheArgProGlnArgMetArgArgArgLeuValGlnProTrpGlyProGlnGlnSerGlyProLeuArgSerSerPheSerValProCysLeuGlyValProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS534454" }, { "coordinates": [ { "allele": "A", "end": 1350, "referenceAllele": "G", "start": 1349 } ], "gene": "http://reg.genome.network/gene/GN004122", "geneNCBI_id": 2588, "geneSymbol": "GALNS", "hgvs": [ "XM_011522982.2:c.1233G>A" ], "proteinEffect": { "hgvs": "XP_011521284.1:p.Trp411Ter", "hgvsWellDefined": "XP_011521284.1:p.Trp411_Pro581delinsThrAsnSerTrpGluAsnPheArgGlnGlyIleAspPheCysProGlyGlnAsnValSerGlyValThrThrHisAsnLeuGluAspHisThrLysLeuProLeuIlePheHisLeuGlyArgAspProGlyGluArgPheProLeuSerPheAlaSerAlaGluTyrGlnGluAlaLeuSerArgIleThrSerValValGlnGlnHisGlnGluAlaLeuValProAlaGlnProGlnLeuAsnValCysAsnTrpAlaValMetAlaProThrGlnSerSerThrSerValGlnProAspLysThrArgProCysSerProProValGluLysArgProHisHisAlaSerIleGlyGlnLysHisLysHisArgArgAlaSerLysValSerLeuLysSerValPheArgProGlnArgMetArgArgArgLeuValGlnProTrpGlyProGlnGlnSerGlyProLeuArgSerSerPheSerValProCysLeuGlyValProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS546838" }, { "coordinates": [ { "allele": "A", "end": 3635, "referenceAllele": "G", "start": 3634 } ], "gene": "http://reg.genome.network/gene/GN004122", "geneNCBI_id": 2588, "geneSymbol": "GALNS", "hgvs": [ "XM_017023111.2:c.1233G>A" ], "proteinEffect": { "hgvs": "XP_016878600.1:p.Trp411Ter", "hgvsWellDefined": "XP_016878600.1:p.Trp411_Leu511delinsThrAsnSerTrpGluAsnPheArgGlnGlyIleAspPheCysProGlyGlnAsnValSerGlyValThrThrHisAsnLeuGluAspHisThrLysLeuProLeuIlePheHisLeuGlyArgAspProGlyGluArgPheProLeuSerPheAlaSerAlaGluTyrGlnGluAlaLeuSerArgIleThrSerValValGlnGlnHisGlnGluAlaLeuValProAlaGlnProGlnLeuAsnValCysAsnTrpAlaValMetGlyProCysAspAspLeuGlnThrProGlyLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS573926" }, { "coordinates": [ { "allele": "A", "end": 3635, "referenceAllele": "G", "start": 3634 } ], "gene": "http://reg.genome.network/gene/GN004122", "geneNCBI_id": 2588, "geneSymbol": "GALNS", "hgvs": [ "XM_017023112.2:c.1233G>A" ], "proteinEffect": { "hgvs": "XP_016878601.1:p.Trp411Ter", "hgvsWellDefined": "XP_016878601.1:p.Trp411_Thr508delinsThrAsnSerTrpGluAsnPheArgGlnGlyIleAspPheCysProGlyGlnAsnValSerGlyValThrThrHisAsnLeuGluAspHisThrLysLeuProLeuIlePheHisLeuGlyArgAspProGlyGluArgPheProLeuSerPheAlaSerAlaGluTyrGlnGluAlaLeuSerArgIleThrSerValValGlnGlnHisGlnGluAlaLeuValProAlaGlnProGlnLeuAsnValCysAsnTrpAlaValMetProGlnArgProSerHisGlnThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS573927" }, { "coordinates": [ { "allele": "A", "end": 1162, "referenceAllele": "G", "start": 1161 } ], "gene": "http://reg.genome.network/gene/GN004122", "geneNCBI_id": 2588, "geneSymbol": "GALNS", "hgvs": [ "XM_017023113.1:c.660G>A" ], "proteinEffect": { "hgvs": "XP_016878602.1:p.Trp220Ter", "hgvsWellDefined": "XP_016878602.1:p.Trp220_Pro390delinsThrAsnSerTrpGluAsnPheArgGlnGlyIleAspPheCysProGlyGlnAsnValSerGlyValThrThrHisAsnLeuGluAspHisThrLysLeuProLeuIlePheHisLeuGlyArgAspProGlyGluArgPheProLeuSerPheAlaSerAlaGluTyrGlnGluAlaLeuSerArgIleThrSerValValGlnGlnHisGlnGluAlaLeuValProAlaGlnProGlnLeuAsnValCysAsnTrpAlaValMetAlaProThrGlnSerSerThrSerValGlnProAspLysThrArgProCysSerProProValGluLysArgProHisHisAlaSerIleGlyGlnLysHisLysHisArgArgAlaSerLysValSerLeuLysSerValPheArgProGlnArgMetArgArgArgLeuValGlnProTrpGlyProGlnGlnSerGlyProLeuArgSerSerPheSerValProCysLeuGlyValProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS573928" }, { "@id": "http://reg.genome.network/allele/PA2825204832", "coordinates": [ { "allele": "A", "end": 1285, "referenceAllele": "G", "start": 1284 } ], "gene": "http://reg.genome.network/gene/GN004122", "geneNCBI_id": 2588, "geneSymbol": "GALNS", "hgvs": [ "NM_000512.5:c.1215G>A" ], "proteinEffect": { "hgvs": "NP_000503.1:p.Trp405Ter", "hgvsWellDefined": "NP_000503.1:p.Trp405_His522delinsThrAsnSerTrpGluAsnPheArgGlnGlyIleAspPheCysProGlyGlnAsnValSerGlyValThrThrHisAsnLeuGluAspHisThrLysLeuProLeuIlePheHisLeuGlyArgAspProGlyGluArgPheProLeuSerPheAlaSerAlaGluTyrGlnGluAlaLeuSerArgIleThrSerValValGlnGlnHisGlnGluAlaLeuValProAlaGlnProGlnLeuAsnValCysAsnTrpAlaValMetAsnTrpAlaProProGlyCysGluLysLeuGlyLysCysLeuThrProProGluSerIleProLysLysCysLeuTrpSerHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662466", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000268695.10:c.1215G>A" }, "RefSeq": { "hgvs": "NM_000512.5:c.1215G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000268695.5:p.Trp405Ter" }, "RefSeq": { "hgvs": "NP_000503.1:p.Trp405Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2827194072", "coordinates": [ { "allele": "A", "end": 1161, "referenceAllele": "G", "start": 1160 } ], "gene": "http://reg.genome.network/gene/GN004122", "geneNCBI_id": 2588, "geneSymbol": "GALNS", "hgvs": [ "NM_001323543.2:c.660G>A" ], "proteinEffect": { "hgvs": "NP_001310472.1:p.Trp220Ter", "hgvsWellDefined": "NP_001310472.1:p.Trp220_His337delinsThrAsnSerTrpGluAsnPheArgGlnGlyIleAspPheCysProGlyGlnAsnValSerGlyValThrThrHisAsnLeuGluAspHisThrLysLeuProLeuIlePheHisLeuGlyArgAspProGlyGluArgPheProLeuSerPheAlaSerAlaGluTyrGlnGluAlaLeuSerArgIleThrSerValValGlnGlnHisGlnGluAlaLeuValProAlaGlnProGlnLeuAsnValCysAsnTrpAlaValMetAsnTrpAlaProProGlyCysGluLysLeuGlyLysCysLeuThrProProGluSerIleProLysLysCysLeuTrpSerHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS686042" }, { "@id": "http://reg.genome.network/allele/PA2499249196", "coordinates": [ { "allele": "A", "end": 1455, "referenceAllele": "G", "start": 1454 } ], "gene": "http://reg.genome.network/gene/GN004122", "geneNCBI_id": 2588, "geneSymbol": "GALNS", "hgvs": [ "NM_001323544.2:c.1233G>A" ], "proteinEffect": { "hgvs": "NP_001310473.1:p.Trp411Ter", "hgvsWellDefined": "NP_001310473.1:p.Trp411_His528delinsThrAsnSerTrpGluAsnPheArgGlnGlyIleAspPheCysProGlyGlnAsnValSerGlyValThrThrHisAsnLeuGluAspHisThrLysLeuProLeuIlePheHisLeuGlyArgAspProGlyGluArgPheProLeuSerPheAlaSerAlaGluTyrGlnGluAlaLeuSerArgIleThrSerValValGlnGlnHisGlnGluAlaLeuValProAlaGlnProGlnLeuAsnValCysAsnTrpAlaValMetAsnTrpAlaProProGlyCysGluLysLeuGlyLysCysLeuThrProProGluSerIleProLysLysCysLeuTrpSerHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS686043" } ], "type": "nucleotide" }