{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA16041963", "communityStandardTitle": [ "NM_000159.4(GCDH):c.172G>T (p.Glu58Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=358588[alleleid]", "alleleId": 358588, "preferredName": "NM_000159.4(GCDH):c.172G>T (p.Glu58Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/370338", "RCV": [ "RCV000412281" ], "variationId": 370338 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr19:g.13002689G>T?assembly=hg19", "id": "chr19:g.13002689G>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr19:g.12891875G>T?assembly=hg38", "id": "chr19:g.12891875G>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1006150317", "rs": 1006150317 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/19-12891875-G-T?dataset=gnomad_r4", "id": "19-12891875-G-T", "variant": "19:12891875 G / T" } ] }, "genomicAlleles": [ { "chromosome": "19", "coordinates": [ { "allele": "T", "end": 12891875, "referenceAllele": "G", "start": 12891874 } ], "hgvs": [ "NC_000019.10:g.12891875G>T", "CM000681.2:g.12891875G>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000067" }, { "chromosome": "19", "coordinates": [ { "allele": "T", "end": 13002689, "referenceAllele": "G", "start": 13002688 } ], "hgvs": [ "NC_000019.9:g.13002689G>T", "CM000681.1:g.13002689G>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000043" }, { "chromosome": "19", "coordinates": [ { "allele": "T", "end": 12863689, "referenceAllele": "G", "start": 12863688 } ], "hgvs": [ "NC_000019.8:g.12863689G>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000019" }, { "coordinates": [ { "allele": "T", "end": 5716, "referenceAllele": "G", "start": 5715 } ], "hgvs": [ "NG_009292.1:g.5716G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001548" }, { "coordinates": [ { "allele": "A", "end": 329, "referenceAllele": "C", "start": 328 } ], "hgvs": [ "NG_013087.1:g.329C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS002710" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 249, "referenceAllele": "G", "start": 248 } ], "gene": "http://reg.genome.network/gene/GN004189", "geneNCBI_id": 2639, "geneSymbol": "GCDH", "hgvs": [ "ENST00000222214.10:c.172G>T" ], "proteinEffect": { "hgvs": "ENSP00000222214.4:p.Glu58Ter", "hgvsWellDefined": "ENSP00000222214.4:p.Glu58_Lys438delinsGlnLeuThrThrAspGluIleLeuIleArgAspThrPheArgThrTyrCysGlnGluArgLeuMetProArgIleLeuLeuAlaAsnArgAsnGluValPheHisArgGluIleIleSerGluMetGlyGluLeuGlyValLeuGlyProThrIleLysGlyTyrGlyCysAlaGlyValSerSerValAlaTyrGlyLeuLeuAlaArgGluLeuGluArgValAspSerGlyTyrArgSerAlaMetSerValGlnSerSerLeuValMetHisProIleTyrAlaTyrGlySerGluGluGlnArgGlnLysTyrLeuProGlnLeuAlaLysGlyGluLeuLeuGlyCysPheGlyLeuThrGluProAsnSerGlySerAspProSerSerMetGluThrArgAlaHisTyrAsnSerSerAsnLysSerTyrThrLeuAsnGlyThrLysThrTrpIleThrAsnSerProMetAlaAspLeuPheValValTrpAlaArgCysGluAspGlyCysIleArgGlyPheLeuLeuGluLysGlyMetArgGlyLeuSerAlaProArgIleGlnGlyLysPheSerLeuArgAlaSerAlaThrGlyMetIleIleMetAspGlyValGluValProGluGluAsnValLeuProGlyAlaSerSerLeuGlyGlyProPheGlyCysLeuAsnAsnAlaArgTyrGlyIleAlaTrpGlyValLeuGlyAlaSerGluPheCysLeuHisThrAlaArgGlnTyrAlaLeuAspArgMetGlnPheGlyValProLeuAlaArgAsnGlnLeuIleGlnLysLysLeuAlaAspMetLeuThrGluIleThrLeuGlyLeuHisAlaCysLeuGlnLeuGlyArgLeuLysAspGlnAspLysAlaAlaProGluMetValSerLeuLeuLysArgAsnAsnCysGlyLysAlaLeuAspIleAlaArgGlnAlaArgAspMetLeuGlyGlyAsnGlyIleSerAspGluTyrHisValIleArgHisAlaMetAsnLeuGluAlaValAsnThrTyrGluGlyThrHisAspIleHisAlaLeuIleLeuGlyArgAlaIleThrGlyIleGlnAlaPheThrAlaSerLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS740551", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000222214.10:c.172G>T" }, "RefSeq": { "hgvs": "NM_000159.4:c.172G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000222214.4:p.Glu58Ter" }, "RefSeq": { "hgvs": "NP_000150.1:p.Glu58Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 383, "referenceAllele": "G", "start": 382 } ], "gene": "http://reg.genome.network/gene/GN004189", "geneNCBI_id": 2639, "geneSymbol": "GCDH", "hgvs": [ "ENST00000222214.9:c.172G>T" ], "proteinEffect": { "hgvs": "ENSP00000222214.4:p.Glu58Ter", "hgvsWellDefined": "ENSP00000222214.4:p.Glu58_Lys438delinsGlnLeuThrThrAspGluIleLeuIleArgAspThrPheArgThrTyrCysGlnGluArgLeuMetProArgIleLeuLeuAlaAsnArgAsnGluValPheHisArgGluIleIleSerGluMetGlyGluLeuGlyValLeuGlyProThrIleLysGlyTyrGlyCysAlaGlyValSerSerValAlaTyrGlyLeuLeuAlaArgGluLeuGluArgValAspSerGlyTyrArgSerAlaMetSerValGlnSerSerLeuValMetHisProIleTyrAlaTyrGlySerGluGluGlnArgGlnLysTyrLeuProGlnLeuAlaLysGlyGluLeuLeuGlyCysPheGlyLeuThrGluProAsnSerGlySerAspProSerSerMetGluThrArgAlaHisTyrAsnSerSerAsnLysSerTyrThrLeuAsnGlyThrLysThrTrpIleThrAsnSerProMetAlaAspLeuPheValValTrpAlaArgCysGluAspGlyCysIleArgGlyPheLeuLeuGluLysGlyMetArgGlyLeuSerAlaProArgIleGlnGlyLysPheSerLeuArgAlaSerAlaThrGlyMetIleIleMetAspGlyValGluValProGluGluAsnValLeuProGlyAlaSerSerLeuGlyGlyProPheGlyCysLeuAsnAsnAlaArgTyrGlyIleAlaTrpGlyValLeuGlyAlaSerGluPheCysLeuHisThrAlaArgGlnTyrAlaLeuAspArgMetGlnPheGlyValProLeuAlaArgAsnGlnLeuIleGlnLysLysLeuAlaAspMetLeuThrGluIleThrLeuGlyLeuHisAlaCysLeuGlnLeuGlyArgLeuLysAspGlnAspLysAlaAlaProGluMetValSerLeuLeuLysArgAsnAsnCysGlyLysAlaLeuAspIleAlaArgGlnAlaArgAspMetLeuGlyGlyAsnGlyIleSerAspGluTyrHisValIleArgHisAlaMetAsnLeuGluAlaValAsnThrTyrGluGlyThrHisAspIleHisAlaLeuIleLeuGlyArgAlaIleThrGlyIleGlnAlaPheThrAlaSerLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS248350" }, { "coordinates": [ { "allele": "T", "end": 213, "referenceAllele": "G", "start": 212 } ], "gene": "http://reg.genome.network/gene/GN004189", "geneNCBI_id": 2639, "geneSymbol": "GCDH", "hgvs": [ "ENST00000421816.6:n.213G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS286984" }, { "coordinates": [ { "allele": "T", "end": 537, "referenceAllele": "G", "start": 536 } ], "gene": "http://reg.genome.network/gene/GN004189", "geneNCBI_id": 2639, "geneSymbol": "GCDH", "hgvs": [ "ENST00000585420.5:n.537G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS388707" }, { "coordinates": [ { "allele": "T", "end": 208, "referenceAllele": "G", "start": 207 } ], "gene": "http://reg.genome.network/gene/GN004189", "geneNCBI_id": 2639, "geneSymbol": "GCDH", "hgvs": [ "ENST00000585760.5:n.208G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS388938" }, { "coordinates": [ { "allele": "T", "end": 232, "referenceAllele": "G", "start": 231 } ], "gene": "http://reg.genome.network/gene/GN004189", "geneNCBI_id": 2639, "geneSymbol": "GCDH", "hgvs": [ "ENST00000587072.1:c.172G>T" ], "proteinEffect": { "hgvs": "ENSP00000468584.1:p.Glu58Ter", "hgvsWellDefined": "ENSP00000468584.1:p.Glu58_Cys131del" }, "referenceSequence": "http://reg.genome.network/refseq/RS389824" }, { "coordinates": [ { "allele": "T", "end": 229, "referenceAllele": "G", "start": 228 } ], "gene": "http://reg.genome.network/gene/GN004189", "geneNCBI_id": 2639, "geneSymbol": "GCDH", "hgvs": [ "ENST00000587832.5:n.229G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS390355" }, { "coordinates": [ { "allele": "T", "end": 205, "referenceAllele": "G", "start": 204 } ], "gene": "http://reg.genome.network/gene/GN004189", "geneNCBI_id": 2639, "geneSymbol": "GCDH", "hgvs": [ "ENST00000588905.5:c.136G>T" ], "proteinEffect": { "hgvs": "ENSP00000465770.1:p.Glu46Ter", "hgvsWellDefined": "ENSP00000465770.1:p.Glu46Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS391110" }, { "coordinates": [ { "allele": "T", "end": 249, "referenceAllele": "G", "start": 248 } ], "gene": "http://reg.genome.network/gene/GN004189", "geneNCBI_id": 2639, "geneSymbol": "GCDH", "hgvs": [ "ENST00000589039.5:c.172G>T" ], "proteinEffect": { "hgvs": "ENSP00000465618.1:p.Glu58Ter", "hgvsWellDefined": "ENSP00000465618.1:p.Glu58Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS391208" }, { "coordinates": [ { "allele": "T", "end": 383, "referenceAllele": "G", "start": 382 } ], "gene": "http://reg.genome.network/gene/GN004189", "geneNCBI_id": 2639, "geneSymbol": "GCDH", "hgvs": [ "ENST00000590445.5:c.*49G>T" ], "proteinEffect": { "hgvs": "ENSP00000468125.1:n.*49G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS392192" }, { "coordinates": [ { "allele": "T", "end": 243, "referenceAllele": "G", "start": 242 } ], "gene": "http://reg.genome.network/gene/GN004189", "geneNCBI_id": 2639, "geneSymbol": "GCDH", "hgvs": [ "ENST00000590530.5:c.172G>T" ], "proteinEffect": { "hgvs": "ENSP00000468452.1:p.Glu58Ter", "hgvsWellDefined": "ENSP00000468452.1:p.Glu58_Lys204delinsGlnLeuThrThrAspGluIleLeuIleArgAspThrPheArgThrTyrCysGlnGluArgLeuMetProArgIleLeuLeuAlaAsnArgAsnGluGluSerGlySerValAlaGlnAlaGlyValGlnTrpHisAspLeuGlySerLeuGlnIleLeuProProArgLeuLysArgPheSerCysLeuHisProSerSerSerTrpAspTyrArgIleTrpLeuCysTrpGlyPheValCysGlyLeuTrpAlaProGlyProArgAlaGlyAlaGlyGlyGlnTrpLeuGlnValGlyAspGluCysProValLeuProArgHisAlaProTyrLeuCysLeuTrpGlnArgGlyThrAlaAlaGluValProAlaProAlaGlyGlnGlyGlyAlaProGlyLeuLeuArgAlaHisArgAlaGlnGlnArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS392249" }, { "coordinates": [ { "allele": "T", "end": 537, "referenceAllele": "G", "start": 536 } ], "gene": "http://reg.genome.network/gene/GN004189", "geneNCBI_id": 2639, "geneSymbol": "GCDH", "hgvs": [ "ENST00000590627.5:n.537G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS392321" }, { "coordinates": [ { "allele": "T", "end": 208, "referenceAllele": "G", "start": 207 } ], "gene": "http://reg.genome.network/gene/GN004189", "geneNCBI_id": 2639, "geneSymbol": "GCDH", "hgvs": [ "ENST00000591043.1:n.208G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS392611" }, { "coordinates": [ { "allele": "T", "end": 317, "referenceAllele": "G", "start": 316 } ], "gene": "http://reg.genome.network/gene/GN004189", "geneNCBI_id": 2639, "geneSymbol": "GCDH", "hgvs": [ "ENST00000591470.5:c.172G>T" ], "proteinEffect": { "hgvs": "ENSP00000466845.1:p.Glu58Ter", "hgvsWellDefined": "ENSP00000466845.1:p.Glu58_Lys438delinsGlnLeuThrThrAspGluIleLeuIleArgAspThrPheArgThrTyrCysGlnGluArgLeuMetProArgIleLeuLeuAlaAsnArgAsnGluValPheHisArgGluIleIleSerGluMetGlyGluLeuGlyValLeuGlyProThrIleLysGlyTyrGlyCysAlaGlyValSerSerValAlaTyrGlyLeuLeuAlaArgGluLeuGluArgValAspSerGlyTyrArgSerAlaMetSerValGlnSerSerLeuValMetHisProIleTyrAlaTyrGlySerGluGluGlnArgGlnLysTyrLeuProGlnLeuAlaLysGlyGluLeuLeuGlyCysPheGlyLeuThrGluProAsnSerGlySerAspProSerSerMetGluThrArgAlaHisTyrAsnSerSerAsnLysSerTyrThrLeuAsnGlyThrLysThrTrpIleThrAsnSerProMetAlaAspLeuPheValValTrpAlaArgCysGluAspGlyCysIleArgGlyPheLeuLeuGluLysGlyMetArgGlyLeuSerAlaProArgIleGlnGlyLysPheSerLeuArgAlaSerAlaThrGlyMetIleIleMetAspGlyValGluValProGluGluAsnValLeuProGlyAlaSerSerLeuGlyGlyProPheGlyCysLeuAsnAsnAlaArgTyrGlyIleAlaTrpGlyValLeuGlyAlaSerGluPheCysLeuHisThrAlaArgGlnTyrAlaLeuAspArgMetGlnPheGlyValProLeuAlaArgAsnGlnLeuIleGlnLysLysLeuAlaAspMetLeuThrGluIleThrLeuGlyLeuHisAlaCysLeuGlnLeuGlyArgLeuLysAspGlnAspLysAlaAlaProGluMetValSerLeuLeuLysArgAsnAsnCysGlyLysAlaLeuAspIleAlaArgGlnAlaArgAspMetLeuGlyGlyAsnGlyIleSerAspGluTyrHisValIleArgHisAlaMetAsnLeuGluAlaValAsnThrTyrGluGlyThrHisAspIleHisAlaLeuIleLeuGlyArgAlaIleThrGlyIleGlnAlaPheThrAlaSerLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS392892" }, { "@id": "http://reg.genome.network/allele/PA645479832", "coordinates": [ { "allele": "T", "end": 280, "referenceAllele": "G", "start": 279 } ], "gene": "http://reg.genome.network/gene/GN004189", "geneNCBI_id": 2639, "geneSymbol": "GCDH", "hgvs": [ "NM_000159.3:c.172G>T" ], "proteinEffect": { "hgvs": "NP_000150.1:p.Glu58Ter", "hgvsWellDefined": "NP_000150.1:p.Glu58_Lys438delinsGlnLeuThrThrAspGluIleLeuIleArgAspThrPheArgThrTyrCysGlnGluArgLeuMetProArgIleLeuLeuAlaAsnArgAsnGluValPheHisArgGluIleIleSerGluMetGlyGluLeuGlyValLeuGlyProThrIleLysGlyTyrGlyCysAlaGlyValSerSerValAlaTyrGlyLeuLeuAlaArgGluLeuGluArgValAspSerGlyTyrArgSerAlaMetSerValGlnSerSerLeuValMetHisProIleTyrAlaTyrGlySerGluGluGlnArgGlnLysTyrLeuProGlnLeuAlaLysGlyGluLeuLeuGlyCysPheGlyLeuThrGluProAsnSerGlySerAspProSerSerMetGluThrArgAlaHisTyrAsnSerSerAsnLysSerTyrThrLeuAsnGlyThrLysThrTrpIleThrAsnSerProMetAlaAspLeuPheValValTrpAlaArgCysGluAspGlyCysIleArgGlyPheLeuLeuGluLysGlyMetArgGlyLeuSerAlaProArgIleGlnGlyLysPheSerLeuArgAlaSerAlaThrGlyMetIleIleMetAspGlyValGluValProGluGluAsnValLeuProGlyAlaSerSerLeuGlyGlyProPheGlyCysLeuAsnAsnAlaArgTyrGlyIleAlaTrpGlyValLeuGlyAlaSerGluPheCysLeuHisThrAlaArgGlnTyrAlaLeuAspArgMetGlnPheGlyValProLeuAlaArgAsnGlnLeuIleGlnLysLysLeuAlaAspMetLeuThrGluIleThrLeuGlyLeuHisAlaCysLeuGlnLeuGlyArgLeuLysAspGlnAspLysAlaAlaProGluMetValSerLeuLeuLysArgAsnAsnCysGlyLysAlaLeuAspIleAlaArgGlnAlaArgAspMetLeuGlyGlyAsnGlyIleSerAspGluTyrHisValIleArgHisAlaMetAsnLeuGluAlaValAsnThrTyrGluGlyThrHisAspIleHisAlaLeuIleLeuGlyArgAlaIleThrGlyIleGlnAlaPheThrAlaSerLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006221" }, { "@id": "http://reg.genome.network/allele/PA916008952", "coordinates": [ { "allele": "T", "end": 280, "referenceAllele": "G", "start": 279 } ], "gene": "http://reg.genome.network/gene/GN004189", "geneNCBI_id": 2639, "geneSymbol": "GCDH", "hgvs": [ "NM_013976.3:c.172G>T" ], "proteinEffect": { "hgvs": "NP_039663.1:p.Glu58Ter", "hgvsWellDefined": "NP_039663.1:p.Glu58_Leu428delinsGlnLeuThrThrAspGluIleLeuIleArgAspThrPheArgThrTyrCysGlnGluArgLeuMetProArgIleLeuLeuAlaAsnArgAsnGluValPheHisArgGluIleIleSerGluMetGlyGluLeuGlyValLeuGlyProThrIleLysGlyTyrGlyCysAlaGlyValSerSerValAlaTyrGlyLeuLeuAlaArgGluLeuGluArgValAspSerGlyTyrArgSerAlaMetSerValGlnSerSerLeuValMetHisProIleTyrAlaTyrGlySerGluGluGlnArgGlnLysTyrLeuProGlnLeuAlaLysGlyGluLeuLeuGlyCysPheGlyLeuThrGluProAsnSerGlySerAspProSerSerMetGluThrArgAlaHisTyrAsnSerSerAsnLysSerTyrThrLeuAsnGlyThrLysThrTrpIleThrAsnSerProMetAlaAspLeuPheValValTrpAlaArgCysGluAspGlyCysIleArgGlyPheLeuLeuGluLysGlyMetArgGlyLeuSerAlaProArgIleGlnGlyLysPheSerLeuArgAlaSerAlaThrGlyMetIleIleMetAspGlyValGluValProGluGluAsnValLeuProGlyAlaSerSerLeuGlyGlyProPheGlyCysLeuAsnAsnAlaArgTyrGlyIleAlaTrpGlyValLeuGlyAlaSerGluPheCysLeuHisThrAlaArgGlnTyrAlaLeuAspArgMetGlnPheGlyValProLeuAlaArgAsnGlnLeuIleGlnLysLysLeuAlaAspMetLeuThrGluIleThrLeuGlyLeuHisAlaCysLeuGlnLeuGlyArgLeuLysAspGlnAspLysAlaAlaProGluMetValSerLeuLeuLysArgAsnAsnCysGlyLysAlaLeuAspIleAlaArgGlnAlaArgAspMetLeuGlyGlyAsnGlyIleSerAspGluTyrHisValIleArgHisAlaMetAsnLeuGluAlaValAsnThrTyrGluValValGlnMetCysSerLeuLysArgArgTrpAsnSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS032843" }, { "coordinates": [ { "allele": "T", "end": 280, "referenceAllele": "G", "start": 279 } ], "gene": "http://reg.genome.network/gene/GN004189", "geneNCBI_id": 2639, "geneSymbol": "GCDH", "hgvs": [ "NR_102316.1:n.280G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS052774" }, { "coordinates": [ { "allele": "T", "end": 588, "referenceAllele": "G", "start": 587 } ], "gene": "http://reg.genome.network/gene/GN004189", "geneNCBI_id": 2639, "geneSymbol": "GCDH", "hgvs": [ "NR_102317.1:n.588G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS052775" }, { "coordinates": [ { "allele": "T", "end": 249, "referenceAllele": "G", "start": 248 } ], "gene": "http://reg.genome.network/gene/GN004189", "geneNCBI_id": 2639, "geneSymbol": "GCDH", "hgvs": [ "XM_006722721.2:c.172G>T" ], "proteinEffect": { "hgvs": "XP_006722784.1:p.Glu58Ter", "hgvsWellDefined": "XP_006722784.1:p.Glu58_Arg442delinsGlnLeuThrThrAspGluIleLeuIleArgAspThrPheArgThrTyrCysGlnGluArgLeuMetProArgIleLeuLeuAlaAsnArgAsnGluValPheHisArgGluIleIleSerGluMetGlyGluLeuGlyValLeuGlyProThrIleLysGlyTyrGlyCysAlaGlyValSerSerValAlaTyrGlyLeuLeuAlaArgGluLeuGluArgValAspSerGlyTyrArgSerAlaMetSerValGlnSerSerLeuValMetHisProIleTyrAlaTyrGlySerGluGluGlnArgGlnLysTyrLeuProGlnLeuAlaLysGlyGluLeuLeuGlyCysPheGlyLeuThrGluProAsnSerGlySerAspProSerSerMetGluThrArgAlaHisTyrAsnSerSerAsnLysSerTyrThrLeuAsnGlyThrLysThrTrpIleThrAsnSerProMetAlaAspLeuPheValValTrpAlaArgCysGluAspGlyCysIleArgGlyPheLeuLeuGluLysGlyMetArgGlyLeuSerAlaProArgIleGlnGlyLysPheSerLeuArgAlaSerAlaThrGlyMetIleIleMetAspGlyValGluValProGluGluAsnValLeuProGlyAlaSerSerLeuGlyGlyProPheGlyCysLeuAsnAsnAlaArgTyrGlyIleAlaTrpGlyValLeuGlyAlaSerGluPheCysLeuHisThrAlaArgGlnTyrAlaLeuAspArgMetGlnPheGlyValProLeuAlaArgAsnGlnLeuIleGlnLysLysLeuAlaAspMetLeuThrGluIleThrLeuGlyLeuHisAlaCysLeuGlnLeuGlyArgLeuLysAspGlnAspLysAlaAlaProGluMetValSerLeuLeuLysArgAsnAsnCysGlyLysAlaLeuAspIleAlaArgGlnAlaArgAspMetLeuGlyGlyAsnGlyIleSerAspGluTyrHisValIleArgHisAlaMetAsnLeuGluAlaValAsnThrTyrGluGluLeuLeuIleGlnGlnTrpAspMetThrThrValTrpLeuLeuSerSerAspThrProCysTyrArgGlySerGlnThrArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS074704" }, { "coordinates": [ { "allele": "T", "end": 249, "referenceAllele": "G", "start": 248 } ], "gene": "http://reg.genome.network/gene/GN004189", "geneNCBI_id": 2639, "geneSymbol": "GCDH", "hgvs": [ "XM_011527899.1:c.172G>T" ], "proteinEffect": { "hgvs": "XP_011526201.1:p.Glu58Ter", "hgvsWellDefined": "XP_011526201.1:p.Glu58_Ser446delinsGlnLeuThrThrAspGluIleLeuIleArgAspThrPheArgThrTyrCysGlnGluArgLeuMetProArgIleLeuLeuAlaAsnArgAsnGluValPheHisArgGluIleIleSerGluMetGlyGluLeuGlyValLeuGlyProThrIleLysGlyTyrGlyCysAlaGlyValSerSerValAlaTyrGlyLeuLeuAlaArgGluLeuGluArgValAspSerGlyTyrArgSerAlaMetSerValGlnSerSerLeuValMetHisProIleTyrAlaTyrGlySerGluGluGlnArgGlnLysTyrLeuProGlnLeuAlaLysGlyGluLeuLeuGlyCysPheGlyLeuThrGluProAsnSerGlySerAspProSerSerMetGluThrArgAlaHisTyrAsnSerSerAsnLysSerTyrThrLeuAsnGlyThrLysThrTrpIleThrAsnSerProMetAlaAspLeuPheValValTrpAlaArgCysGluAspGlyCysIleArgGlyPheLeuLeuGluLysGlyMetArgGlyLeuSerAlaProArgIleGlnGlyLysPheSerLeuArgAlaSerAlaThrGlyMetIleIleMetAspGlyValGluValProGluGluAsnValLeuProGlyAlaSerSerLeuGlyGlyProPheGlyCysLeuAsnAsnAlaArgTyrGlyIleAlaTrpGlyValLeuGlyAlaSerGluPheCysLeuHisThrAlaArgGlnTyrAlaLeuAspArgMetGlnPheGlyValProLeuAlaArgAsnGlnLeuIleGlnLysLysLeuAlaAspMetLeuThrGluIleThrLeuGlyLeuHisAlaCysLeuGlnLeuGlyArgLeuLysAspGlnAspLysAlaAlaProGluMetValSerLeuLeuLysArgAsnAsnCysGlyLysAlaLeuAspIleAlaArgGlnAlaArgAspMetLeuGlyGlyAsnGlyIleSerAspGluTyrHisValIleArgHisAlaMetAsnLeuGluAlaValAsnThrTyrGluGlyGluLeuIleHisSerThrAlaAlaAlaGluThrMetThrProThrGluProSerProAspProHisProThrProSerSerGlySerGluSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS094980" }, { "coordinates": [ { "allele": "T", "end": 249, "referenceAllele": "G", "start": 248 } ], "gene": "http://reg.genome.network/gene/GN004189", "geneNCBI_id": 2639, "geneSymbol": "GCDH", "hgvs": [ "XM_011527900.1:c.172G>T" ], "proteinEffect": { "hgvs": "XP_011526202.1:p.Glu58Ter", "hgvsWellDefined": "XP_011526202.1:p.Glu58_Trp443delinsGlnLeuThrThrAspGluIleLeuIleArgAspThrPheArgThrTyrCysGlnGluArgLeuMetProArgIleLeuLeuAlaAsnArgAsnGluValPheHisArgGluIleIleSerGluMetGlyGluLeuGlyValLeuGlyProThrIleLysGlyTyrGlyCysAlaGlyValSerSerValAlaTyrGlyLeuLeuAlaArgGluLeuGluArgValAspSerGlyTyrArgSerAlaMetSerValGlnSerSerLeuValMetHisProIleTyrAlaTyrGlySerGluGluGlnArgGlnLysTyrLeuProGlnLeuAlaLysGlyGluLeuLeuGlyCysPheGlyLeuThrGluProAsnSerGlySerAspProSerSerMetGluThrArgAlaHisTyrAsnSerSerAsnLysSerTyrThrLeuAsnGlyThrLysThrTrpIleThrAsnSerProMetAlaAspLeuPheValValTrpAlaArgCysGluAspGlyCysIleArgGlyPheLeuLeuGluLysGlyMetArgGlyLeuSerAlaProArgIleGlnGlyLysPheSerLeuArgAlaSerAlaThrGlyMetIleIleMetAspGlyValGluValProGluGluAsnValLeuProGlyAlaSerSerLeuGlyGlyProPheGlyCysLeuAsnAsnAlaArgTyrGlyIleAlaTrpGlyValLeuGlyAlaSerGluPheCysLeuHisThrAlaArgGlnTyrAlaLeuAspArgMetGlnPheGlyValProLeuAlaArgAsnGlnLeuIleGlnLysLysLeuAlaAspMetLeuThrGluIleThrLeuGlyLeuHisAlaCysLeuGlnLeuGlyArgLeuLysAspGlnAspLysAlaAlaProGluMetValSerLeuLeuLysArgAsnAsnCysGlyLysAlaLeuAspIleAlaArgGlnAlaArgAspMetLeuGlyGlyAsnGlyIleSerAspGluTyrHisValIleArgHisAlaMetAsnLeuGluAlaValAsnThrTyrGluGluLeuLeuIleGlnGlnTrpAspMetThrThrValTrpLeuLeuSerSerAspThrProCysTyrArgGlySerGlnThrArgTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS094981" }, { "coordinates": [ { "allele": "T", "end": 249, "referenceAllele": "G", "start": 248 } ], "gene": "http://reg.genome.network/gene/GN004189", "geneNCBI_id": 2639, "geneSymbol": "GCDH", "hgvs": [ "XM_011527899.2:c.172G>T" ], "proteinEffect": { "hgvs": "XP_011526201.1:p.Glu58Ter", "hgvsWellDefined": "XP_011526201.1:p.Glu58_Ser446delinsGlnLeuThrThrAspGluIleLeuIleArgAspThrPheArgThrTyrCysGlnGluArgLeuMetProArgIleLeuLeuAlaAsnArgAsnGluValPheHisArgGluIleIleSerGluMetGlyGluLeuGlyValLeuGlyProThrIleLysGlyTyrGlyCysAlaGlyValSerSerValAlaTyrGlyLeuLeuAlaArgGluLeuGluArgValAspSerGlyTyrArgSerAlaMetSerValGlnSerSerLeuValMetHisProIleTyrAlaTyrGlySerGluGluGlnArgGlnLysTyrLeuProGlnLeuAlaLysGlyGluLeuLeuGlyCysPheGlyLeuThrGluProAsnSerGlySerAspProSerSerMetGluThrArgAlaHisTyrAsnSerSerAsnLysSerTyrThrLeuAsnGlyThrLysThrTrpIleThrAsnSerProMetAlaAspLeuPheValValTrpAlaArgCysGluAspGlyCysIleArgGlyPheLeuLeuGluLysGlyMetArgGlyLeuSerAlaProArgIleGlnGlyLysPheSerLeuArgAlaSerAlaThrGlyMetIleIleMetAspGlyValGluValProGluGluAsnValLeuProGlyAlaSerSerLeuGlyGlyProPheGlyCysLeuAsnAsnAlaArgTyrGlyIleAlaTrpGlyValLeuGlyAlaSerGluPheCysLeuHisThrAlaArgGlnTyrAlaLeuAspArgMetGlnPheGlyValProLeuAlaArgAsnGlnLeuIleGlnLysLysLeuAlaAspMetLeuThrGluIleThrLeuGlyLeuHisAlaCysLeuGlnLeuGlyArgLeuLysAspGlnAspLysAlaAlaProGluMetValSerLeuLeuLysArgAsnAsnCysGlyLysAlaLeuAspIleAlaArgGlnAlaArgAspMetLeuGlyGlyAsnGlyIleSerAspGluTyrHisValIleArgHisAlaMetAsnLeuGluAlaValAsnThrTyrGluGlyGluLeuIleHisSerThrAlaAlaAlaGluThrMetThrProThrGluProSerProAspProHisProThrProSerSerGlySerGluSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS548874" }, { "coordinates": [ { "allele": "T", "end": 249, "referenceAllele": "G", "start": 248 } ], "gene": "http://reg.genome.network/gene/GN004189", "geneNCBI_id": 2639, "geneSymbol": "GCDH", "hgvs": [ "XM_011527900.2:c.172G>T" ], "proteinEffect": { "hgvs": "XP_011526202.1:p.Glu58Ter", "hgvsWellDefined": "XP_011526202.1:p.Glu58_Trp443delinsGlnLeuThrThrAspGluIleLeuIleArgAspThrPheArgThrTyrCysGlnGluArgLeuMetProArgIleLeuLeuAlaAsnArgAsnGluValPheHisArgGluIleIleSerGluMetGlyGluLeuGlyValLeuGlyProThrIleLysGlyTyrGlyCysAlaGlyValSerSerValAlaTyrGlyLeuLeuAlaArgGluLeuGluArgValAspSerGlyTyrArgSerAlaMetSerValGlnSerSerLeuValMetHisProIleTyrAlaTyrGlySerGluGluGlnArgGlnLysTyrLeuProGlnLeuAlaLysGlyGluLeuLeuGlyCysPheGlyLeuThrGluProAsnSerGlySerAspProSerSerMetGluThrArgAlaHisTyrAsnSerSerAsnLysSerTyrThrLeuAsnGlyThrLysThrTrpIleThrAsnSerProMetAlaAspLeuPheValValTrpAlaArgCysGluAspGlyCysIleArgGlyPheLeuLeuGluLysGlyMetArgGlyLeuSerAlaProArgIleGlnGlyLysPheSerLeuArgAlaSerAlaThrGlyMetIleIleMetAspGlyValGluValProGluGluAsnValLeuProGlyAlaSerSerLeuGlyGlyProPheGlyCysLeuAsnAsnAlaArgTyrGlyIleAlaTrpGlyValLeuGlyAlaSerGluPheCysLeuHisThrAlaArgGlnTyrAlaLeuAspArgMetGlnPheGlyValProLeuAlaArgAsnGlnLeuIleGlnLysLysLeuAlaAspMetLeuThrGluIleThrLeuGlyLeuHisAlaCysLeuGlnLeuGlyArgLeuLysAspGlnAspLysAlaAlaProGluMetValSerLeuLeuLysArgAsnAsnCysGlyLysAlaLeuAspIleAlaArgGlnAlaArgAspMetLeuGlyGlyAsnGlyIleSerAspGluTyrHisValIleArgHisAlaMetAsnLeuGluAlaValAsnThrTyrGluGluLeuLeuIleGlnGlnTrpAspMetThrThrValTrpLeuLeuSerSerAspThrProCysTyrArgGlySerGlnThrArgTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS548875" }, { "coordinates": [ { "allele": "T", "end": 249, "referenceAllele": "G", "start": 248 } ], "gene": "http://reg.genome.network/gene/GN004189", "geneNCBI_id": 2639, "geneSymbol": "GCDH", "hgvs": [ "XM_017026580.1:c.172G>T" ], "proteinEffect": { "hgvs": "XP_016882069.1:p.Glu58Ter", "hgvsWellDefined": "XP_016882069.1:p.Glu58_Arg442delinsGlnLeuThrThrAspGluIleLeuIleArgAspThrPheArgThrTyrCysGlnGluArgLeuMetProArgIleLeuLeuAlaAsnArgAsnGluValPheHisArgGluIleIleSerGluMetGlyGluLeuGlyValLeuGlyProThrIleLysGlyTyrGlyCysAlaGlyValSerSerValAlaTyrGlyLeuLeuAlaArgGluLeuGluArgValAspSerGlyTyrArgSerAlaMetSerValGlnSerSerLeuValMetHisProIleTyrAlaTyrGlySerGluGluGlnArgGlnLysTyrLeuProGlnLeuAlaLysGlyGluLeuLeuGlyCysPheGlyLeuThrGluProAsnSerGlySerAspProSerSerMetGluThrArgAlaHisTyrAsnSerSerAsnLysSerTyrThrLeuAsnGlyThrLysThrTrpIleThrAsnSerProMetAlaAspLeuPheValValTrpAlaArgCysGluAspGlyCysIleArgGlyPheLeuLeuGluLysGlyMetArgGlyLeuSerAlaProArgIleGlnGlyLysPheSerLeuArgAlaSerAlaThrGlyMetIleIleMetAspGlyValGluValProGluGluAsnValLeuProGlyAlaSerSerLeuGlyGlyProPheGlyCysLeuAsnAsnAlaArgTyrGlyIleAlaTrpGlyValLeuGlyAlaSerGluPheCysLeuHisThrAlaArgGlnTyrAlaLeuAspArgMetGlnPheGlyValProLeuAlaArgAsnGlnLeuIleGlnLysLysLeuAlaAspMetLeuThrGluIleThrLeuGlyLeuHisAlaCysLeuGlnLeuGlyArgLeuLysAspGlnAspLysAlaAlaProGluMetValSerLeuLeuLysArgAsnAsnCysGlyLysAlaLeuAspIleAlaArgGlnAlaArgAspMetLeuGlyGlyAsnGlyIleSerAspGluTyrHisValIleArgHisAlaMetAsnLeuGluAlaValAsnThrTyrGluGluLeuLeuIleGlnGlnTrpAspMetThrThrValTrpLeuLeuSerSerAspThrProCysTyrArgGlySerGlnThrArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS576706" }, { "@id": "http://reg.genome.network/allele/PA645479832", "coordinates": [ { "allele": "T", "end": 249, "referenceAllele": "G", "start": 248 } ], "gene": "http://reg.genome.network/gene/GN004189", "geneNCBI_id": 2639, "geneSymbol": "GCDH", "hgvs": [ "NM_000159.4:c.172G>T" ], "proteinEffect": { "hgvs": "NP_000150.1:p.Glu58Ter", "hgvsWellDefined": "NP_000150.1:p.Glu58_Lys438delinsGlnLeuThrThrAspGluIleLeuIleArgAspThrPheArgThrTyrCysGlnGluArgLeuMetProArgIleLeuLeuAlaAsnArgAsnGluValPheHisArgGluIleIleSerGluMetGlyGluLeuGlyValLeuGlyProThrIleLysGlyTyrGlyCysAlaGlyValSerSerValAlaTyrGlyLeuLeuAlaArgGluLeuGluArgValAspSerGlyTyrArgSerAlaMetSerValGlnSerSerLeuValMetHisProIleTyrAlaTyrGlySerGluGluGlnArgGlnLysTyrLeuProGlnLeuAlaLysGlyGluLeuLeuGlyCysPheGlyLeuThrGluProAsnSerGlySerAspProSerSerMetGluThrArgAlaHisTyrAsnSerSerAsnLysSerTyrThrLeuAsnGlyThrLysThrTrpIleThrAsnSerProMetAlaAspLeuPheValValTrpAlaArgCysGluAspGlyCysIleArgGlyPheLeuLeuGluLysGlyMetArgGlyLeuSerAlaProArgIleGlnGlyLysPheSerLeuArgAlaSerAlaThrGlyMetIleIleMetAspGlyValGluValProGluGluAsnValLeuProGlyAlaSerSerLeuGlyGlyProPheGlyCysLeuAsnAsnAlaArgTyrGlyIleAlaTrpGlyValLeuGlyAlaSerGluPheCysLeuHisThrAlaArgGlnTyrAlaLeuAspArgMetGlnPheGlyValProLeuAlaArgAsnGlnLeuIleGlnLysLysLeuAlaAspMetLeuThrGluIleThrLeuGlyLeuHisAlaCysLeuGlnLeuGlyArgLeuLysAspGlnAspLysAlaAlaProGluMetValSerLeuLeuLysArgAsnAsnCysGlyLysAlaLeuAspIleAlaArgGlnAlaArgAspMetLeuGlyGlyAsnGlyIleSerAspGluTyrHisValIleArgHisAlaMetAsnLeuGluAlaValAsnThrTyrGluGlyThrHisAspIleHisAlaLeuIleLeuGlyArgAlaIleThrGlyIleGlnAlaPheThrAlaSerLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662332", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000222214.10:c.172G>T" }, "RefSeq": { "hgvs": "NM_000159.4:c.172G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000222214.4:p.Glu58Ter" }, "RefSeq": { "hgvs": "NP_000150.1:p.Glu58Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA916008952", "coordinates": [ { "allele": "T", "end": 249, "referenceAllele": "G", "start": 248 } ], "gene": "http://reg.genome.network/gene/GN004189", "geneNCBI_id": 2639, "geneSymbol": "GCDH", "hgvs": [ "NM_013976.4:c.172G>T" ], "proteinEffect": { "hgvs": "NP_039663.1:p.Glu58Ter", "hgvsWellDefined": "NP_039663.1:p.Glu58_Leu428delinsGlnLeuThrThrAspGluIleLeuIleArgAspThrPheArgThrTyrCysGlnGluArgLeuMetProArgIleLeuLeuAlaAsnArgAsnGluValPheHisArgGluIleIleSerGluMetGlyGluLeuGlyValLeuGlyProThrIleLysGlyTyrGlyCysAlaGlyValSerSerValAlaTyrGlyLeuLeuAlaArgGluLeuGluArgValAspSerGlyTyrArgSerAlaMetSerValGlnSerSerLeuValMetHisProIleTyrAlaTyrGlySerGluGluGlnArgGlnLysTyrLeuProGlnLeuAlaLysGlyGluLeuLeuGlyCysPheGlyLeuThrGluProAsnSerGlySerAspProSerSerMetGluThrArgAlaHisTyrAsnSerSerAsnLysSerTyrThrLeuAsnGlyThrLysThrTrpIleThrAsnSerProMetAlaAspLeuPheValValTrpAlaArgCysGluAspGlyCysIleArgGlyPheLeuLeuGluLysGlyMetArgGlyLeuSerAlaProArgIleGlnGlyLysPheSerLeuArgAlaSerAlaThrGlyMetIleIleMetAspGlyValGluValProGluGluAsnValLeuProGlyAlaSerSerLeuGlyGlyProPheGlyCysLeuAsnAsnAlaArgTyrGlyIleAlaTrpGlyValLeuGlyAlaSerGluPheCysLeuHisThrAlaArgGlnTyrAlaLeuAspArgMetGlnPheGlyValProLeuAlaArgAsnGlnLeuIleGlnLysLysLeuAlaAspMetLeuThrGluIleThrLeuGlyLeuHisAlaCysLeuGlnLeuGlyArgLeuLysAspGlnAspLysAlaAlaProGluMetValSerLeuLeuLysArgAsnAsnCysGlyLysAlaLeuAspIleAlaArgGlnAlaArgAspMetLeuGlyGlyAsnGlyIleSerAspGluTyrHisValIleArgHisAlaMetAsnLeuGluAlaValAsnThrTyrGluValValGlnMetCysSerLeuLysArgArgTrpAsnSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS697153" }, { "@id": "http://reg.genome.network/allele/PA916008952", "coordinates": [ { "allele": "T", "end": 249, "referenceAllele": "G", "start": 248 } ], "gene": "http://reg.genome.network/gene/GN004189", "geneNCBI_id": 2639, "geneSymbol": "GCDH", "hgvs": [ "NM_013976.5:c.172G>T" ], "proteinEffect": { "hgvs": "NP_039663.1:p.Glu58Ter", "hgvsWellDefined": "NP_039663.1:p.Glu58_Leu428delinsGlnLeuThrThrAspGluIleLeuIleArgAspThrPheArgThrTyrCysGlnGluArgLeuMetProArgIleLeuLeuAlaAsnArgAsnGluValPheHisArgGluIleIleSerGluMetGlyGluLeuGlyValLeuGlyProThrIleLysGlyTyrGlyCysAlaGlyValSerSerValAlaTyrGlyLeuLeuAlaArgGluLeuGluArgValAspSerGlyTyrArgSerAlaMetSerValGlnSerSerLeuValMetHisProIleTyrAlaTyrGlySerGluGluGlnArgGlnLysTyrLeuProGlnLeuAlaLysGlyGluLeuLeuGlyCysPheGlyLeuThrGluProAsnSerGlySerAspProSerSerMetGluThrArgAlaHisTyrAsnSerSerAsnLysSerTyrThrLeuAsnGlyThrLysThrTrpIleThrAsnSerProMetAlaAspLeuPheValValTrpAlaArgCysGluAspGlyCysIleArgGlyPheLeuLeuGluLysGlyMetArgGlyLeuSerAlaProArgIleGlnGlyLysPheSerLeuArgAlaSerAlaThrGlyMetIleIleMetAspGlyValGluValProGluGluAsnValLeuProGlyAlaSerSerLeuGlyGlyProPheGlyCysLeuAsnAsnAlaArgTyrGlyIleAlaTrpGlyValLeuGlyAlaSerGluPheCysLeuHisThrAlaArgGlnTyrAlaLeuAspArgMetGlnPheGlyValProLeuAlaArgAsnGlnLeuIleGlnLysLysLeuAlaAspMetLeuThrGluIleThrLeuGlyLeuHisAlaCysLeuGlnLeuGlyArgLeuLysAspGlnAspLysAlaAlaProGluMetValSerLeuLeuLysArgAsnAsnCysGlyLysAlaLeuAspIleAlaArgGlnAlaArgAspMetLeuGlyGlyAsnGlyIleSerAspGluTyrHisValIleArgHisAlaMetAsnLeuGluAlaValAsnThrTyrGluValValGlnMetCysSerLeuLysArgArgTrpAsnSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS727927" } ], "type": "nucleotide" }