{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA404314488", "communityStandardTitle": [ "NM_000159.4(GCDH):c.124A>T (p.Lys42Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=972327[alleleid]", "alleleId": 972327, "preferredName": "NM_000159.4(GCDH):c.124A>T (p.Lys42Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/984308", "RCV": [ "RCV001264318" ], "variationId": 984308 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr19:g.13002333A>T?assembly=hg19", "id": "chr19:g.13002333A>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr19:g.12891519A>T?assembly=hg38", "id": "chr19:g.12891519A>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1252148225", "rs": 1252148225 } ] }, "genomicAlleles": [ { "chromosome": "19", "coordinates": [ { "allele": "T", "end": 12891519, "referenceAllele": "A", "start": 12891518 } ], "hgvs": [ "NC_000019.10:g.12891519A>T", "CM000681.2:g.12891519A>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000067" }, { "chromosome": "19", "coordinates": [ { "allele": "T", "end": 13002333, "referenceAllele": "A", "start": 13002332 } ], "hgvs": [ "NC_000019.9:g.13002333A>T", "CM000681.1:g.13002333A>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000043" }, { "chromosome": "19", "coordinates": [ { "allele": "T", "end": 12863333, "referenceAllele": "A", "start": 12863332 } ], "hgvs": [ "NC_000019.8:g.12863333A>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000019" }, { "coordinates": [ { "allele": "T", "end": 5360, "referenceAllele": "A", "start": 5359 } ], "hgvs": [ "NG_009292.1:g.5360A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001548" }, { "coordinates": [ { "allele": "A", "end": 685, "referenceAllele": "T", "start": 684 } ], "hgvs": [ "NG_013087.1:g.685T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS002710" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 201, "referenceAllele": "A", "start": 200 } ], "gene": "http://reg.genome.network/gene/GN004189", "geneNCBI_id": 2639, "geneSymbol": "GCDH", "hgvs": [ "ENST00000222214.10:c.124A>T" ], "proteinEffect": { "hgvs": "ENSP00000222214.4:p.Lys42Ter", "hgvsWellDefined": "ENSP00000222214.4:p.Lys42_Lys438delinsSerSerArgProGluPheAspTrpGlnAspProLeuValLeuGluGluGlnLeuThrThrAspGluIleLeuIleArgAspThrPheArgThrTyrCysGlnGluArgLeuMetProArgIleLeuLeuAlaAsnArgAsnGluValPheHisArgGluIleIleSerGluMetGlyGluLeuGlyValLeuGlyProThrIleLysGlyTyrGlyCysAlaGlyValSerSerValAlaTyrGlyLeuLeuAlaArgGluLeuGluArgValAspSerGlyTyrArgSerAlaMetSerValGlnSerSerLeuValMetHisProIleTyrAlaTyrGlySerGluGluGlnArgGlnLysTyrLeuProGlnLeuAlaLysGlyGluLeuLeuGlyCysPheGlyLeuThrGluProAsnSerGlySerAspProSerSerMetGluThrArgAlaHisTyrAsnSerSerAsnLysSerTyrThrLeuAsnGlyThrLysThrTrpIleThrAsnSerProMetAlaAspLeuPheValValTrpAlaArgCysGluAspGlyCysIleArgGlyPheLeuLeuGluLysGlyMetArgGlyLeuSerAlaProArgIleGlnGlyLysPheSerLeuArgAlaSerAlaThrGlyMetIleIleMetAspGlyValGluValProGluGluAsnValLeuProGlyAlaSerSerLeuGlyGlyProPheGlyCysLeuAsnAsnAlaArgTyrGlyIleAlaTrpGlyValLeuGlyAlaSerGluPheCysLeuHisThrAlaArgGlnTyrAlaLeuAspArgMetGlnPheGlyValProLeuAlaArgAsnGlnLeuIleGlnLysLysLeuAlaAspMetLeuThrGluIleThrLeuGlyLeuHisAlaCysLeuGlnLeuGlyArgLeuLysAspGlnAspLysAlaAlaProGluMetValSerLeuLeuLysArgAsnAsnCysGlyLysAlaLeuAspIleAlaArgGlnAlaArgAspMetLeuGlyGlyAsnGlyIleSerAspGluTyrHisValIleArgHisAlaMetAsnLeuGluAlaValAsnThrTyrGluGlyThrHisAspIleHisAlaLeuIleLeuGlyArgAlaIleThrGlyIleGlnAlaPheThrAlaSerLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS740551", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000222214.10:c.124A>T" }, "RefSeq": { "hgvs": "NM_000159.4:c.124A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000222214.4:p.Lys42Ter" }, "RefSeq": { "hgvs": "NP_000150.1:p.Lys42Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 335, "referenceAllele": "A", "start": 334 } ], "gene": "http://reg.genome.network/gene/GN004189", "geneNCBI_id": 2639, "geneSymbol": "GCDH", "hgvs": [ "ENST00000222214.9:c.124A>T" ], "proteinEffect": { "hgvs": "ENSP00000222214.4:p.Lys42Ter", "hgvsWellDefined": "ENSP00000222214.4:p.Lys42_Lys438delinsSerSerArgProGluPheAspTrpGlnAspProLeuValLeuGluGluGlnLeuThrThrAspGluIleLeuIleArgAspThrPheArgThrTyrCysGlnGluArgLeuMetProArgIleLeuLeuAlaAsnArgAsnGluValPheHisArgGluIleIleSerGluMetGlyGluLeuGlyValLeuGlyProThrIleLysGlyTyrGlyCysAlaGlyValSerSerValAlaTyrGlyLeuLeuAlaArgGluLeuGluArgValAspSerGlyTyrArgSerAlaMetSerValGlnSerSerLeuValMetHisProIleTyrAlaTyrGlySerGluGluGlnArgGlnLysTyrLeuProGlnLeuAlaLysGlyGluLeuLeuGlyCysPheGlyLeuThrGluProAsnSerGlySerAspProSerSerMetGluThrArgAlaHisTyrAsnSerSerAsnLysSerTyrThrLeuAsnGlyThrLysThrTrpIleThrAsnSerProMetAlaAspLeuPheValValTrpAlaArgCysGluAspGlyCysIleArgGlyPheLeuLeuGluLysGlyMetArgGlyLeuSerAlaProArgIleGlnGlyLysPheSerLeuArgAlaSerAlaThrGlyMetIleIleMetAspGlyValGluValProGluGluAsnValLeuProGlyAlaSerSerLeuGlyGlyProPheGlyCysLeuAsnAsnAlaArgTyrGlyIleAlaTrpGlyValLeuGlyAlaSerGluPheCysLeuHisThrAlaArgGlnTyrAlaLeuAspArgMetGlnPheGlyValProLeuAlaArgAsnGlnLeuIleGlnLysLysLeuAlaAspMetLeuThrGluIleThrLeuGlyLeuHisAlaCysLeuGlnLeuGlyArgLeuLysAspGlnAspLysAlaAlaProGluMetValSerLeuLeuLysArgAsnAsnCysGlyLysAlaLeuAspIleAlaArgGlnAlaArgAspMetLeuGlyGlyAsnGlyIleSerAspGluTyrHisValIleArgHisAlaMetAsnLeuGluAlaValAsnThrTyrGluGlyThrHisAspIleHisAlaLeuIleLeuGlyArgAlaIleThrGlyIleGlnAlaPheThrAlaSerLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS248350" }, { "coordinates": [ { "allele": "T", "end": 168, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "A", "start": 168, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN004189", "geneNCBI_id": 2639, "geneSymbol": "GCDH", "hgvs": [ "ENST00000421816.6:n.168+124A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS286984" }, { "coordinates": [ { "allele": "T", "end": 181, "referenceAllele": "A", "start": 180 } ], "gene": "http://reg.genome.network/gene/GN004189", "geneNCBI_id": 2639, "geneSymbol": "GCDH", "hgvs": [ "ENST00000585420.5:n.181A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS388707" }, { "coordinates": [ { "allele": "T", "end": 160, "referenceAllele": "A", "start": 159 } ], "gene": "http://reg.genome.network/gene/GN004189", "geneNCBI_id": 2639, "geneSymbol": "GCDH", "hgvs": [ "ENST00000585760.5:n.160A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS388938" }, { "coordinates": [ { "allele": "T", "end": 184, "referenceAllele": "A", "start": 183 } ], "gene": "http://reg.genome.network/gene/GN004189", "geneNCBI_id": 2639, "geneSymbol": "GCDH", "hgvs": [ "ENST00000587072.1:c.124A>T" ], "proteinEffect": { "hgvs": "ENSP00000468584.1:p.Lys42Ter", "hgvsWellDefined": "ENSP00000468584.1:p.Lys42_Cys131del" }, "referenceSequence": "http://reg.genome.network/refseq/RS389824" }, { "coordinates": [ { "allele": "T", "end": 181, "referenceAllele": "A", "start": 180 } ], "gene": "http://reg.genome.network/gene/GN004189", "geneNCBI_id": 2639, "geneSymbol": "GCDH", "hgvs": [ "ENST00000587832.5:n.181A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS390355" }, { "coordinates": [ { "allele": "T", "end": 160, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "A", "start": 160, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN004189", "geneNCBI_id": 2639, "geneSymbol": "GCDH", "hgvs": [ "ENST00000588905.5:c.91+124A>T" ], "proteinEffect": { "hgvs": "ENSP00000465770.1:n.91+124A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS391110" }, { "coordinates": [ { "allele": "T", "end": 201, "referenceAllele": "A", "start": 200 } ], "gene": "http://reg.genome.network/gene/GN004189", "geneNCBI_id": 2639, "geneSymbol": "GCDH", "hgvs": [ "ENST00000589039.5:c.124A>T" ], "proteinEffect": { "hgvs": "ENSP00000465618.1:p.Lys42Ter", "hgvsWellDefined": "ENSP00000465618.1:p.Lys42Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS391208" }, { "coordinates": [ { "allele": "T", "end": 197, "referenceAllele": "A", "start": 196 } ], "gene": "http://reg.genome.network/gene/GN004189", "geneNCBI_id": 2639, "geneSymbol": "GCDH", "hgvs": [ "ENST00000590445.5:c.124A>T" ], "proteinEffect": { "hgvs": "ENSP00000468125.1:p.Lys42Ter", "hgvsWellDefined": "ENSP00000468125.1:p.Lys42_His86delinsCysLysAspLeuTrpSerHisArgValSerAlaAlaProValGlnLeuSerValCysArgArgTrpThrLeuSerGlnAsnProArgAlaAlaArgAlaGlyTrpGlnGlyArgGlyGlnGlyGlnArgHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS392192" }, { "coordinates": [ { "allele": "T", "end": 195, "referenceAllele": "A", "start": 194 } ], "gene": "http://reg.genome.network/gene/GN004189", "geneNCBI_id": 2639, "geneSymbol": "GCDH", "hgvs": [ "ENST00000590530.5:c.124A>T" ], "proteinEffect": { "hgvs": "ENSP00000468452.1:p.Lys42Ter", "hgvsWellDefined": "ENSP00000468452.1:p.Lys42_Lys204delinsSerSerArgProGluPheAspTrpGlnAspProLeuValLeuGluGluGlnLeuThrThrAspGluIleLeuIleArgAspThrPheArgThrTyrCysGlnGluArgLeuMetProArgIleLeuLeuAlaAsnArgAsnGluGluSerGlySerValAlaGlnAlaGlyValGlnTrpHisAspLeuGlySerLeuGlnIleLeuProProArgLeuLysArgPheSerCysLeuHisProSerSerSerTrpAspTyrArgIleTrpLeuCysTrpGlyPheValCysGlyLeuTrpAlaProGlyProArgAlaGlyAlaGlyGlyGlnTrpLeuGlnValGlyAspGluCysProValLeuProArgHisAlaProTyrLeuCysLeuTrpGlnArgGlyThrAlaAlaGluValProAlaProAlaGlyGlnGlyGlyAlaProGlyLeuLeuArgAlaHisArgAlaGlnGlnArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS392249" }, { "coordinates": [ { "allele": "T", "end": 181, "referenceAllele": "A", "start": 180 } ], "gene": "http://reg.genome.network/gene/GN004189", "geneNCBI_id": 2639, "geneSymbol": "GCDH", "hgvs": [ "ENST00000590627.5:n.181A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS392321" }, { "coordinates": [ { "allele": "T", "end": 160, "referenceAllele": "A", "start": 159 } ], "gene": "http://reg.genome.network/gene/GN004189", "geneNCBI_id": 2639, "geneSymbol": "GCDH", "hgvs": [ "ENST00000591043.1:n.160A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS392611" }, { "coordinates": [ { "allele": "T", "end": 269, "referenceAllele": "A", "start": 268 } ], "gene": "http://reg.genome.network/gene/GN004189", "geneNCBI_id": 2639, "geneSymbol": "GCDH", "hgvs": [ "ENST00000591470.5:c.124A>T" ], "proteinEffect": { "hgvs": "ENSP00000466845.1:p.Lys42Ter", "hgvsWellDefined": "ENSP00000466845.1:p.Lys42_Lys438delinsSerSerArgProGluPheAspTrpGlnAspProLeuValLeuGluGluGlnLeuThrThrAspGluIleLeuIleArgAspThrPheArgThrTyrCysGlnGluArgLeuMetProArgIleLeuLeuAlaAsnArgAsnGluValPheHisArgGluIleIleSerGluMetGlyGluLeuGlyValLeuGlyProThrIleLysGlyTyrGlyCysAlaGlyValSerSerValAlaTyrGlyLeuLeuAlaArgGluLeuGluArgValAspSerGlyTyrArgSerAlaMetSerValGlnSerSerLeuValMetHisProIleTyrAlaTyrGlySerGluGluGlnArgGlnLysTyrLeuProGlnLeuAlaLysGlyGluLeuLeuGlyCysPheGlyLeuThrGluProAsnSerGlySerAspProSerSerMetGluThrArgAlaHisTyrAsnSerSerAsnLysSerTyrThrLeuAsnGlyThrLysThrTrpIleThrAsnSerProMetAlaAspLeuPheValValTrpAlaArgCysGluAspGlyCysIleArgGlyPheLeuLeuGluLysGlyMetArgGlyLeuSerAlaProArgIleGlnGlyLysPheSerLeuArgAlaSerAlaThrGlyMetIleIleMetAspGlyValGluValProGluGluAsnValLeuProGlyAlaSerSerLeuGlyGlyProPheGlyCysLeuAsnAsnAlaArgTyrGlyIleAlaTrpGlyValLeuGlyAlaSerGluPheCysLeuHisThrAlaArgGlnTyrAlaLeuAspArgMetGlnPheGlyValProLeuAlaArgAsnGlnLeuIleGlnLysLysLeuAlaAspMetLeuThrGluIleThrLeuGlyLeuHisAlaCysLeuGlnLeuGlyArgLeuLysAspGlnAspLysAlaAlaProGluMetValSerLeuLeuLysArgAsnAsnCysGlyLysAlaLeuAspIleAlaArgGlnAlaArgAspMetLeuGlyGlyAsnGlyIleSerAspGluTyrHisValIleArgHisAlaMetAsnLeuGluAlaValAsnThrTyrGluGlyThrHisAspIleHisAlaLeuIleLeuGlyArgAlaIleThrGlyIleGlnAlaPheThrAlaSerLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS392892" }, { "@id": "http://reg.genome.network/allele/PA2825069664", "coordinates": [ { "allele": "T", "end": 232, "referenceAllele": "A", "start": 231 } ], "gene": "http://reg.genome.network/gene/GN004189", "geneNCBI_id": 2639, "geneSymbol": "GCDH", "hgvs": [ "NM_000159.3:c.124A>T" ], "proteinEffect": { "hgvs": "NP_000150.1:p.Lys42Ter", "hgvsWellDefined": "NP_000150.1:p.Lys42_Lys438delinsSerSerArgProGluPheAspTrpGlnAspProLeuValLeuGluGluGlnLeuThrThrAspGluIleLeuIleArgAspThrPheArgThrTyrCysGlnGluArgLeuMetProArgIleLeuLeuAlaAsnArgAsnGluValPheHisArgGluIleIleSerGluMetGlyGluLeuGlyValLeuGlyProThrIleLysGlyTyrGlyCysAlaGlyValSerSerValAlaTyrGlyLeuLeuAlaArgGluLeuGluArgValAspSerGlyTyrArgSerAlaMetSerValGlnSerSerLeuValMetHisProIleTyrAlaTyrGlySerGluGluGlnArgGlnLysTyrLeuProGlnLeuAlaLysGlyGluLeuLeuGlyCysPheGlyLeuThrGluProAsnSerGlySerAspProSerSerMetGluThrArgAlaHisTyrAsnSerSerAsnLysSerTyrThrLeuAsnGlyThrLysThrTrpIleThrAsnSerProMetAlaAspLeuPheValValTrpAlaArgCysGluAspGlyCysIleArgGlyPheLeuLeuGluLysGlyMetArgGlyLeuSerAlaProArgIleGlnGlyLysPheSerLeuArgAlaSerAlaThrGlyMetIleIleMetAspGlyValGluValProGluGluAsnValLeuProGlyAlaSerSerLeuGlyGlyProPheGlyCysLeuAsnAsnAlaArgTyrGlyIleAlaTrpGlyValLeuGlyAlaSerGluPheCysLeuHisThrAlaArgGlnTyrAlaLeuAspArgMetGlnPheGlyValProLeuAlaArgAsnGlnLeuIleGlnLysLysLeuAlaAspMetLeuThrGluIleThrLeuGlyLeuHisAlaCysLeuGlnLeuGlyArgLeuLysAspGlnAspLysAlaAlaProGluMetValSerLeuLeuLysArgAsnAsnCysGlyLysAlaLeuAspIleAlaArgGlnAlaArgAspMetLeuGlyGlyAsnGlyIleSerAspGluTyrHisValIleArgHisAlaMetAsnLeuGluAlaValAsnThrTyrGluGlyThrHisAspIleHisAlaLeuIleLeuGlyArgAlaIleThrGlyIleGlnAlaPheThrAlaSerLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006221" }, { "@id": "http://reg.genome.network/allele/PA1139728477", "coordinates": [ { "allele": "T", "end": 232, "referenceAllele": "A", "start": 231 } ], "gene": "http://reg.genome.network/gene/GN004189", "geneNCBI_id": 2639, "geneSymbol": "GCDH", "hgvs": [ "NM_013976.3:c.124A>T" ], "proteinEffect": { "hgvs": "NP_039663.1:p.Lys42Ter", "hgvsWellDefined": "NP_039663.1:p.Lys42_Leu428delinsSerSerArgProGluPheAspTrpGlnAspProLeuValLeuGluGluGlnLeuThrThrAspGluIleLeuIleArgAspThrPheArgThrTyrCysGlnGluArgLeuMetProArgIleLeuLeuAlaAsnArgAsnGluValPheHisArgGluIleIleSerGluMetGlyGluLeuGlyValLeuGlyProThrIleLysGlyTyrGlyCysAlaGlyValSerSerValAlaTyrGlyLeuLeuAlaArgGluLeuGluArgValAspSerGlyTyrArgSerAlaMetSerValGlnSerSerLeuValMetHisProIleTyrAlaTyrGlySerGluGluGlnArgGlnLysTyrLeuProGlnLeuAlaLysGlyGluLeuLeuGlyCysPheGlyLeuThrGluProAsnSerGlySerAspProSerSerMetGluThrArgAlaHisTyrAsnSerSerAsnLysSerTyrThrLeuAsnGlyThrLysThrTrpIleThrAsnSerProMetAlaAspLeuPheValValTrpAlaArgCysGluAspGlyCysIleArgGlyPheLeuLeuGluLysGlyMetArgGlyLeuSerAlaProArgIleGlnGlyLysPheSerLeuArgAlaSerAlaThrGlyMetIleIleMetAspGlyValGluValProGluGluAsnValLeuProGlyAlaSerSerLeuGlyGlyProPheGlyCysLeuAsnAsnAlaArgTyrGlyIleAlaTrpGlyValLeuGlyAlaSerGluPheCysLeuHisThrAlaArgGlnTyrAlaLeuAspArgMetGlnPheGlyValProLeuAlaArgAsnGlnLeuIleGlnLysLysLeuAlaAspMetLeuThrGluIleThrLeuGlyLeuHisAlaCysLeuGlnLeuGlyArgLeuLysAspGlnAspLysAlaAlaProGluMetValSerLeuLeuLysArgAsnAsnCysGlyLysAlaLeuAspIleAlaArgGlnAlaArgAspMetLeuGlyGlyAsnGlyIleSerAspGluTyrHisValIleArgHisAlaMetAsnLeuGluAlaValAsnThrTyrGluValValGlnMetCysSerLeuLysArgArgTrpAsnSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS032843" }, { "coordinates": [ { "allele": "T", "end": 232, "referenceAllele": "A", "start": 231 } ], "gene": "http://reg.genome.network/gene/GN004189", "geneNCBI_id": 2639, "geneSymbol": "GCDH", "hgvs": [ "NR_102316.1:n.232A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS052774" }, { "coordinates": [ { "allele": "T", "end": 232, "referenceAllele": "A", "start": 231 } ], "gene": "http://reg.genome.network/gene/GN004189", "geneNCBI_id": 2639, "geneSymbol": "GCDH", "hgvs": [ "NR_102317.1:n.232A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS052775" }, { "coordinates": [ { "allele": "T", "end": 201, "referenceAllele": "A", "start": 200 } ], "gene": "http://reg.genome.network/gene/GN004189", "geneNCBI_id": 2639, "geneSymbol": "GCDH", "hgvs": [ "XM_006722721.2:c.124A>T" ], "proteinEffect": { "hgvs": "XP_006722784.1:p.Lys42Ter", "hgvsWellDefined": "XP_006722784.1:p.Lys42_Arg442delinsSerSerArgProGluPheAspTrpGlnAspProLeuValLeuGluGluGlnLeuThrThrAspGluIleLeuIleArgAspThrPheArgThrTyrCysGlnGluArgLeuMetProArgIleLeuLeuAlaAsnArgAsnGluValPheHisArgGluIleIleSerGluMetGlyGluLeuGlyValLeuGlyProThrIleLysGlyTyrGlyCysAlaGlyValSerSerValAlaTyrGlyLeuLeuAlaArgGluLeuGluArgValAspSerGlyTyrArgSerAlaMetSerValGlnSerSerLeuValMetHisProIleTyrAlaTyrGlySerGluGluGlnArgGlnLysTyrLeuProGlnLeuAlaLysGlyGluLeuLeuGlyCysPheGlyLeuThrGluProAsnSerGlySerAspProSerSerMetGluThrArgAlaHisTyrAsnSerSerAsnLysSerTyrThrLeuAsnGlyThrLysThrTrpIleThrAsnSerProMetAlaAspLeuPheValValTrpAlaArgCysGluAspGlyCysIleArgGlyPheLeuLeuGluLysGlyMetArgGlyLeuSerAlaProArgIleGlnGlyLysPheSerLeuArgAlaSerAlaThrGlyMetIleIleMetAspGlyValGluValProGluGluAsnValLeuProGlyAlaSerSerLeuGlyGlyProPheGlyCysLeuAsnAsnAlaArgTyrGlyIleAlaTrpGlyValLeuGlyAlaSerGluPheCysLeuHisThrAlaArgGlnTyrAlaLeuAspArgMetGlnPheGlyValProLeuAlaArgAsnGlnLeuIleGlnLysLysLeuAlaAspMetLeuThrGluIleThrLeuGlyLeuHisAlaCysLeuGlnLeuGlyArgLeuLysAspGlnAspLysAlaAlaProGluMetValSerLeuLeuLysArgAsnAsnCysGlyLysAlaLeuAspIleAlaArgGlnAlaArgAspMetLeuGlyGlyAsnGlyIleSerAspGluTyrHisValIleArgHisAlaMetAsnLeuGluAlaValAsnThrTyrGluGluLeuLeuIleGlnGlnTrpAspMetThrThrValTrpLeuLeuSerSerAspThrProCysTyrArgGlySerGlnThrArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS074704" }, { "coordinates": [ { "allele": "T", "end": 201, "referenceAllele": "A", "start": 200 } ], "gene": "http://reg.genome.network/gene/GN004189", "geneNCBI_id": 2639, "geneSymbol": "GCDH", "hgvs": [ "XM_011527899.1:c.124A>T" ], "proteinEffect": { "hgvs": "XP_011526201.1:p.Lys42Ter", "hgvsWellDefined": "XP_011526201.1:p.Lys42_Ser446delinsSerSerArgProGluPheAspTrpGlnAspProLeuValLeuGluGluGlnLeuThrThrAspGluIleLeuIleArgAspThrPheArgThrTyrCysGlnGluArgLeuMetProArgIleLeuLeuAlaAsnArgAsnGluValPheHisArgGluIleIleSerGluMetGlyGluLeuGlyValLeuGlyProThrIleLysGlyTyrGlyCysAlaGlyValSerSerValAlaTyrGlyLeuLeuAlaArgGluLeuGluArgValAspSerGlyTyrArgSerAlaMetSerValGlnSerSerLeuValMetHisProIleTyrAlaTyrGlySerGluGluGlnArgGlnLysTyrLeuProGlnLeuAlaLysGlyGluLeuLeuGlyCysPheGlyLeuThrGluProAsnSerGlySerAspProSerSerMetGluThrArgAlaHisTyrAsnSerSerAsnLysSerTyrThrLeuAsnGlyThrLysThrTrpIleThrAsnSerProMetAlaAspLeuPheValValTrpAlaArgCysGluAspGlyCysIleArgGlyPheLeuLeuGluLysGlyMetArgGlyLeuSerAlaProArgIleGlnGlyLysPheSerLeuArgAlaSerAlaThrGlyMetIleIleMetAspGlyValGluValProGluGluAsnValLeuProGlyAlaSerSerLeuGlyGlyProPheGlyCysLeuAsnAsnAlaArgTyrGlyIleAlaTrpGlyValLeuGlyAlaSerGluPheCysLeuHisThrAlaArgGlnTyrAlaLeuAspArgMetGlnPheGlyValProLeuAlaArgAsnGlnLeuIleGlnLysLysLeuAlaAspMetLeuThrGluIleThrLeuGlyLeuHisAlaCysLeuGlnLeuGlyArgLeuLysAspGlnAspLysAlaAlaProGluMetValSerLeuLeuLysArgAsnAsnCysGlyLysAlaLeuAspIleAlaArgGlnAlaArgAspMetLeuGlyGlyAsnGlyIleSerAspGluTyrHisValIleArgHisAlaMetAsnLeuGluAlaValAsnThrTyrGluGlyGluLeuIleHisSerThrAlaAlaAlaGluThrMetThrProThrGluProSerProAspProHisProThrProSerSerGlySerGluSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS094980" }, { "coordinates": [ { "allele": "T", "end": 201, "referenceAllele": "A", "start": 200 } ], "gene": "http://reg.genome.network/gene/GN004189", "geneNCBI_id": 2639, "geneSymbol": "GCDH", "hgvs": [ "XM_011527900.1:c.124A>T" ], "proteinEffect": { "hgvs": "XP_011526202.1:p.Lys42Ter", "hgvsWellDefined": "XP_011526202.1:p.Lys42_Trp443delinsSerSerArgProGluPheAspTrpGlnAspProLeuValLeuGluGluGlnLeuThrThrAspGluIleLeuIleArgAspThrPheArgThrTyrCysGlnGluArgLeuMetProArgIleLeuLeuAlaAsnArgAsnGluValPheHisArgGluIleIleSerGluMetGlyGluLeuGlyValLeuGlyProThrIleLysGlyTyrGlyCysAlaGlyValSerSerValAlaTyrGlyLeuLeuAlaArgGluLeuGluArgValAspSerGlyTyrArgSerAlaMetSerValGlnSerSerLeuValMetHisProIleTyrAlaTyrGlySerGluGluGlnArgGlnLysTyrLeuProGlnLeuAlaLysGlyGluLeuLeuGlyCysPheGlyLeuThrGluProAsnSerGlySerAspProSerSerMetGluThrArgAlaHisTyrAsnSerSerAsnLysSerTyrThrLeuAsnGlyThrLysThrTrpIleThrAsnSerProMetAlaAspLeuPheValValTrpAlaArgCysGluAspGlyCysIleArgGlyPheLeuLeuGluLysGlyMetArgGlyLeuSerAlaProArgIleGlnGlyLysPheSerLeuArgAlaSerAlaThrGlyMetIleIleMetAspGlyValGluValProGluGluAsnValLeuProGlyAlaSerSerLeuGlyGlyProPheGlyCysLeuAsnAsnAlaArgTyrGlyIleAlaTrpGlyValLeuGlyAlaSerGluPheCysLeuHisThrAlaArgGlnTyrAlaLeuAspArgMetGlnPheGlyValProLeuAlaArgAsnGlnLeuIleGlnLysLysLeuAlaAspMetLeuThrGluIleThrLeuGlyLeuHisAlaCysLeuGlnLeuGlyArgLeuLysAspGlnAspLysAlaAlaProGluMetValSerLeuLeuLysArgAsnAsnCysGlyLysAlaLeuAspIleAlaArgGlnAlaArgAspMetLeuGlyGlyAsnGlyIleSerAspGluTyrHisValIleArgHisAlaMetAsnLeuGluAlaValAsnThrTyrGluGluLeuLeuIleGlnGlnTrpAspMetThrThrValTrpLeuLeuSerSerAspThrProCysTyrArgGlySerGlnThrArgTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS094981" }, { "coordinates": [ { "allele": "T", "end": 201, "referenceAllele": "A", "start": 200 } ], "gene": "http://reg.genome.network/gene/GN004189", "geneNCBI_id": 2639, "geneSymbol": "GCDH", "hgvs": [ "XM_011527899.2:c.124A>T" ], "proteinEffect": { "hgvs": "XP_011526201.1:p.Lys42Ter", "hgvsWellDefined": "XP_011526201.1:p.Lys42_Ser446delinsSerSerArgProGluPheAspTrpGlnAspProLeuValLeuGluGluGlnLeuThrThrAspGluIleLeuIleArgAspThrPheArgThrTyrCysGlnGluArgLeuMetProArgIleLeuLeuAlaAsnArgAsnGluValPheHisArgGluIleIleSerGluMetGlyGluLeuGlyValLeuGlyProThrIleLysGlyTyrGlyCysAlaGlyValSerSerValAlaTyrGlyLeuLeuAlaArgGluLeuGluArgValAspSerGlyTyrArgSerAlaMetSerValGlnSerSerLeuValMetHisProIleTyrAlaTyrGlySerGluGluGlnArgGlnLysTyrLeuProGlnLeuAlaLysGlyGluLeuLeuGlyCysPheGlyLeuThrGluProAsnSerGlySerAspProSerSerMetGluThrArgAlaHisTyrAsnSerSerAsnLysSerTyrThrLeuAsnGlyThrLysThrTrpIleThrAsnSerProMetAlaAspLeuPheValValTrpAlaArgCysGluAspGlyCysIleArgGlyPheLeuLeuGluLysGlyMetArgGlyLeuSerAlaProArgIleGlnGlyLysPheSerLeuArgAlaSerAlaThrGlyMetIleIleMetAspGlyValGluValProGluGluAsnValLeuProGlyAlaSerSerLeuGlyGlyProPheGlyCysLeuAsnAsnAlaArgTyrGlyIleAlaTrpGlyValLeuGlyAlaSerGluPheCysLeuHisThrAlaArgGlnTyrAlaLeuAspArgMetGlnPheGlyValProLeuAlaArgAsnGlnLeuIleGlnLysLysLeuAlaAspMetLeuThrGluIleThrLeuGlyLeuHisAlaCysLeuGlnLeuGlyArgLeuLysAspGlnAspLysAlaAlaProGluMetValSerLeuLeuLysArgAsnAsnCysGlyLysAlaLeuAspIleAlaArgGlnAlaArgAspMetLeuGlyGlyAsnGlyIleSerAspGluTyrHisValIleArgHisAlaMetAsnLeuGluAlaValAsnThrTyrGluGlyGluLeuIleHisSerThrAlaAlaAlaGluThrMetThrProThrGluProSerProAspProHisProThrProSerSerGlySerGluSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS548874" }, { "coordinates": [ { "allele": "T", "end": 201, "referenceAllele": "A", "start": 200 } ], "gene": "http://reg.genome.network/gene/GN004189", "geneNCBI_id": 2639, "geneSymbol": "GCDH", "hgvs": [ "XM_011527900.2:c.124A>T" ], "proteinEffect": { "hgvs": "XP_011526202.1:p.Lys42Ter", "hgvsWellDefined": "XP_011526202.1:p.Lys42_Trp443delinsSerSerArgProGluPheAspTrpGlnAspProLeuValLeuGluGluGlnLeuThrThrAspGluIleLeuIleArgAspThrPheArgThrTyrCysGlnGluArgLeuMetProArgIleLeuLeuAlaAsnArgAsnGluValPheHisArgGluIleIleSerGluMetGlyGluLeuGlyValLeuGlyProThrIleLysGlyTyrGlyCysAlaGlyValSerSerValAlaTyrGlyLeuLeuAlaArgGluLeuGluArgValAspSerGlyTyrArgSerAlaMetSerValGlnSerSerLeuValMetHisProIleTyrAlaTyrGlySerGluGluGlnArgGlnLysTyrLeuProGlnLeuAlaLysGlyGluLeuLeuGlyCysPheGlyLeuThrGluProAsnSerGlySerAspProSerSerMetGluThrArgAlaHisTyrAsnSerSerAsnLysSerTyrThrLeuAsnGlyThrLysThrTrpIleThrAsnSerProMetAlaAspLeuPheValValTrpAlaArgCysGluAspGlyCysIleArgGlyPheLeuLeuGluLysGlyMetArgGlyLeuSerAlaProArgIleGlnGlyLysPheSerLeuArgAlaSerAlaThrGlyMetIleIleMetAspGlyValGluValProGluGluAsnValLeuProGlyAlaSerSerLeuGlyGlyProPheGlyCysLeuAsnAsnAlaArgTyrGlyIleAlaTrpGlyValLeuGlyAlaSerGluPheCysLeuHisThrAlaArgGlnTyrAlaLeuAspArgMetGlnPheGlyValProLeuAlaArgAsnGlnLeuIleGlnLysLysLeuAlaAspMetLeuThrGluIleThrLeuGlyLeuHisAlaCysLeuGlnLeuGlyArgLeuLysAspGlnAspLysAlaAlaProGluMetValSerLeuLeuLysArgAsnAsnCysGlyLysAlaLeuAspIleAlaArgGlnAlaArgAspMetLeuGlyGlyAsnGlyIleSerAspGluTyrHisValIleArgHisAlaMetAsnLeuGluAlaValAsnThrTyrGluGluLeuLeuIleGlnGlnTrpAspMetThrThrValTrpLeuLeuSerSerAspThrProCysTyrArgGlySerGlnThrArgTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS548875" }, { "coordinates": [ { "allele": "T", "end": 201, "referenceAllele": "A", "start": 200 } ], "gene": "http://reg.genome.network/gene/GN004189", "geneNCBI_id": 2639, "geneSymbol": "GCDH", "hgvs": [ "XM_017026580.1:c.124A>T" ], "proteinEffect": { "hgvs": "XP_016882069.1:p.Lys42Ter", "hgvsWellDefined": "XP_016882069.1:p.Lys42_Arg442delinsSerSerArgProGluPheAspTrpGlnAspProLeuValLeuGluGluGlnLeuThrThrAspGluIleLeuIleArgAspThrPheArgThrTyrCysGlnGluArgLeuMetProArgIleLeuLeuAlaAsnArgAsnGluValPheHisArgGluIleIleSerGluMetGlyGluLeuGlyValLeuGlyProThrIleLysGlyTyrGlyCysAlaGlyValSerSerValAlaTyrGlyLeuLeuAlaArgGluLeuGluArgValAspSerGlyTyrArgSerAlaMetSerValGlnSerSerLeuValMetHisProIleTyrAlaTyrGlySerGluGluGlnArgGlnLysTyrLeuProGlnLeuAlaLysGlyGluLeuLeuGlyCysPheGlyLeuThrGluProAsnSerGlySerAspProSerSerMetGluThrArgAlaHisTyrAsnSerSerAsnLysSerTyrThrLeuAsnGlyThrLysThrTrpIleThrAsnSerProMetAlaAspLeuPheValValTrpAlaArgCysGluAspGlyCysIleArgGlyPheLeuLeuGluLysGlyMetArgGlyLeuSerAlaProArgIleGlnGlyLysPheSerLeuArgAlaSerAlaThrGlyMetIleIleMetAspGlyValGluValProGluGluAsnValLeuProGlyAlaSerSerLeuGlyGlyProPheGlyCysLeuAsnAsnAlaArgTyrGlyIleAlaTrpGlyValLeuGlyAlaSerGluPheCysLeuHisThrAlaArgGlnTyrAlaLeuAspArgMetGlnPheGlyValProLeuAlaArgAsnGlnLeuIleGlnLysLysLeuAlaAspMetLeuThrGluIleThrLeuGlyLeuHisAlaCysLeuGlnLeuGlyArgLeuLysAspGlnAspLysAlaAlaProGluMetValSerLeuLeuLysArgAsnAsnCysGlyLysAlaLeuAspIleAlaArgGlnAlaArgAspMetLeuGlyGlyAsnGlyIleSerAspGluTyrHisValIleArgHisAlaMetAsnLeuGluAlaValAsnThrTyrGluGluLeuLeuIleGlnGlnTrpAspMetThrThrValTrpLeuLeuSerSerAspThrProCysTyrArgGlySerGlnThrArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS576706" }, { "@id": "http://reg.genome.network/allele/PA2825069664", "coordinates": [ { "allele": "T", "end": 201, "referenceAllele": "A", "start": 200 } ], "gene": "http://reg.genome.network/gene/GN004189", "geneNCBI_id": 2639, "geneSymbol": "GCDH", "hgvs": [ "NM_000159.4:c.124A>T" ], "proteinEffect": { "hgvs": "NP_000150.1:p.Lys42Ter", "hgvsWellDefined": "NP_000150.1:p.Lys42_Lys438delinsSerSerArgProGluPheAspTrpGlnAspProLeuValLeuGluGluGlnLeuThrThrAspGluIleLeuIleArgAspThrPheArgThrTyrCysGlnGluArgLeuMetProArgIleLeuLeuAlaAsnArgAsnGluValPheHisArgGluIleIleSerGluMetGlyGluLeuGlyValLeuGlyProThrIleLysGlyTyrGlyCysAlaGlyValSerSerValAlaTyrGlyLeuLeuAlaArgGluLeuGluArgValAspSerGlyTyrArgSerAlaMetSerValGlnSerSerLeuValMetHisProIleTyrAlaTyrGlySerGluGluGlnArgGlnLysTyrLeuProGlnLeuAlaLysGlyGluLeuLeuGlyCysPheGlyLeuThrGluProAsnSerGlySerAspProSerSerMetGluThrArgAlaHisTyrAsnSerSerAsnLysSerTyrThrLeuAsnGlyThrLysThrTrpIleThrAsnSerProMetAlaAspLeuPheValValTrpAlaArgCysGluAspGlyCysIleArgGlyPheLeuLeuGluLysGlyMetArgGlyLeuSerAlaProArgIleGlnGlyLysPheSerLeuArgAlaSerAlaThrGlyMetIleIleMetAspGlyValGluValProGluGluAsnValLeuProGlyAlaSerSerLeuGlyGlyProPheGlyCysLeuAsnAsnAlaArgTyrGlyIleAlaTrpGlyValLeuGlyAlaSerGluPheCysLeuHisThrAlaArgGlnTyrAlaLeuAspArgMetGlnPheGlyValProLeuAlaArgAsnGlnLeuIleGlnLysLysLeuAlaAspMetLeuThrGluIleThrLeuGlyLeuHisAlaCysLeuGlnLeuGlyArgLeuLysAspGlnAspLysAlaAlaProGluMetValSerLeuLeuLysArgAsnAsnCysGlyLysAlaLeuAspIleAlaArgGlnAlaArgAspMetLeuGlyGlyAsnGlyIleSerAspGluTyrHisValIleArgHisAlaMetAsnLeuGluAlaValAsnThrTyrGluGlyThrHisAspIleHisAlaLeuIleLeuGlyArgAlaIleThrGlyIleGlnAlaPheThrAlaSerLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662332", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000222214.10:c.124A>T" }, "RefSeq": { "hgvs": "NM_000159.4:c.124A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000222214.4:p.Lys42Ter" }, "RefSeq": { "hgvs": "NP_000150.1:p.Lys42Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA1139728477", "coordinates": [ { "allele": "T", "end": 201, "referenceAllele": "A", "start": 200 } ], "gene": "http://reg.genome.network/gene/GN004189", "geneNCBI_id": 2639, "geneSymbol": "GCDH", "hgvs": [ "NM_013976.4:c.124A>T" ], "proteinEffect": { "hgvs": "NP_039663.1:p.Lys42Ter", "hgvsWellDefined": "NP_039663.1:p.Lys42_Leu428delinsSerSerArgProGluPheAspTrpGlnAspProLeuValLeuGluGluGlnLeuThrThrAspGluIleLeuIleArgAspThrPheArgThrTyrCysGlnGluArgLeuMetProArgIleLeuLeuAlaAsnArgAsnGluValPheHisArgGluIleIleSerGluMetGlyGluLeuGlyValLeuGlyProThrIleLysGlyTyrGlyCysAlaGlyValSerSerValAlaTyrGlyLeuLeuAlaArgGluLeuGluArgValAspSerGlyTyrArgSerAlaMetSerValGlnSerSerLeuValMetHisProIleTyrAlaTyrGlySerGluGluGlnArgGlnLysTyrLeuProGlnLeuAlaLysGlyGluLeuLeuGlyCysPheGlyLeuThrGluProAsnSerGlySerAspProSerSerMetGluThrArgAlaHisTyrAsnSerSerAsnLysSerTyrThrLeuAsnGlyThrLysThrTrpIleThrAsnSerProMetAlaAspLeuPheValValTrpAlaArgCysGluAspGlyCysIleArgGlyPheLeuLeuGluLysGlyMetArgGlyLeuSerAlaProArgIleGlnGlyLysPheSerLeuArgAlaSerAlaThrGlyMetIleIleMetAspGlyValGluValProGluGluAsnValLeuProGlyAlaSerSerLeuGlyGlyProPheGlyCysLeuAsnAsnAlaArgTyrGlyIleAlaTrpGlyValLeuGlyAlaSerGluPheCysLeuHisThrAlaArgGlnTyrAlaLeuAspArgMetGlnPheGlyValProLeuAlaArgAsnGlnLeuIleGlnLysLysLeuAlaAspMetLeuThrGluIleThrLeuGlyLeuHisAlaCysLeuGlnLeuGlyArgLeuLysAspGlnAspLysAlaAlaProGluMetValSerLeuLeuLysArgAsnAsnCysGlyLysAlaLeuAspIleAlaArgGlnAlaArgAspMetLeuGlyGlyAsnGlyIleSerAspGluTyrHisValIleArgHisAlaMetAsnLeuGluAlaValAsnThrTyrGluValValGlnMetCysSerLeuLysArgArgTrpAsnSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS697153" }, { "@id": "http://reg.genome.network/allele/PA1139728477", "coordinates": [ { "allele": "T", "end": 201, "referenceAllele": "A", "start": 200 } ], "gene": "http://reg.genome.network/gene/GN004189", "geneNCBI_id": 2639, "geneSymbol": "GCDH", "hgvs": [ "NM_013976.5:c.124A>T" ], "proteinEffect": { "hgvs": "NP_039663.1:p.Lys42Ter", "hgvsWellDefined": "NP_039663.1:p.Lys42_Leu428delinsSerSerArgProGluPheAspTrpGlnAspProLeuValLeuGluGluGlnLeuThrThrAspGluIleLeuIleArgAspThrPheArgThrTyrCysGlnGluArgLeuMetProArgIleLeuLeuAlaAsnArgAsnGluValPheHisArgGluIleIleSerGluMetGlyGluLeuGlyValLeuGlyProThrIleLysGlyTyrGlyCysAlaGlyValSerSerValAlaTyrGlyLeuLeuAlaArgGluLeuGluArgValAspSerGlyTyrArgSerAlaMetSerValGlnSerSerLeuValMetHisProIleTyrAlaTyrGlySerGluGluGlnArgGlnLysTyrLeuProGlnLeuAlaLysGlyGluLeuLeuGlyCysPheGlyLeuThrGluProAsnSerGlySerAspProSerSerMetGluThrArgAlaHisTyrAsnSerSerAsnLysSerTyrThrLeuAsnGlyThrLysThrTrpIleThrAsnSerProMetAlaAspLeuPheValValTrpAlaArgCysGluAspGlyCysIleArgGlyPheLeuLeuGluLysGlyMetArgGlyLeuSerAlaProArgIleGlnGlyLysPheSerLeuArgAlaSerAlaThrGlyMetIleIleMetAspGlyValGluValProGluGluAsnValLeuProGlyAlaSerSerLeuGlyGlyProPheGlyCysLeuAsnAsnAlaArgTyrGlyIleAlaTrpGlyValLeuGlyAlaSerGluPheCysLeuHisThrAlaArgGlnTyrAlaLeuAspArgMetGlnPheGlyValProLeuAlaArgAsnGlnLeuIleGlnLysLysLeuAlaAspMetLeuThrGluIleThrLeuGlyLeuHisAlaCysLeuGlnLeuGlyArgLeuLysAspGlnAspLysAlaAlaProGluMetValSerLeuLeuLysArgAsnAsnCysGlyLysAlaLeuAspIleAlaArgGlnAlaArgAspMetLeuGlyGlyAsnGlyIleSerAspGluTyrHisValIleArgHisAlaMetAsnLeuGluAlaValAsnThrTyrGluValValGlnMetCysSerLeuLysArgArgTrpAsnSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS727927" } ], "type": "nucleotide" }