{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA4276304", "communityStandardTitle": [ "NM_000181.4(GUSB):c.1324G>A (p.Ala442Thr)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2297794[alleleid]", "alleleId": 2297794, "preferredName": "NM_000181.4(GUSB):c.1324G>A (p.Ala442Thr)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2308446", "RCV": [ "RCV002900980" ], "variationId": 2308446 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/7-65439349-C-T", "id": "7-65439349-C-T", "variant": "7:65439349 C / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr7:g.65439349C>T?assembly=hg19", "id": "chr7:g.65439349C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr7:g.65974362C>T?assembly=hg38", "id": "chr7:g.65974362C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/753483823", "rs": 753483823 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/7-65439349-C-T?dataset=gnomad_r2_1", "id": "7-65439349-C-T", "variant": "7:65439349 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/7-65974362-C-T?dataset=gnomad_r4", "id": "7-65974362-C-T", "variant": "7:65974362 C / T" } ] }, "genomicAlleles": [ { "chromosome": "7", "coordinates": [ { "allele": "T", "end": 65974362, "referenceAllele": "C", "start": 65974361 } ], "hgvs": [ "NC_000007.14:g.65974362C>T", "CM000669.2:g.65974362C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000055" }, { "chromosome": "7", "coordinates": [ { "allele": "T", "end": 65439349, "referenceAllele": "C", "start": 65439348 } ], "hgvs": [ "NC_000007.13:g.65439349C>T", "CM000669.1:g.65439349C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000031" }, { "chromosome": "7", "coordinates": [ { "allele": "T", "end": 65076784, "referenceAllele": "C", "start": 65076783 } ], "hgvs": [ "NC_000007.12:g.65076784C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000007" }, { "coordinates": [ { "allele": "A", "end": 12953, "referenceAllele": "G", "start": 12952 } ], "hgvs": [ "NG_016197.1:g.12953G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS003003" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1354, "referenceAllele": "G", "start": 1353 } ], "gene": "http://reg.genome.network/gene/GN004696", "geneNCBI_id": 2990, "geneSymbol": "GUSB", "hgvs": [ "ENST00000304895.9:c.1324G>A" ], "proteinEffect": { "hgvs": "ENSP00000302728.4:p.Ala442Thr", "hgvsWellDefined": "ENSP00000302728.4:p.Ala442Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS745155", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000304895.9:c.1324G>A" }, "RefSeq": { "hgvs": "NM_000181.4:c.1324G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000302728.4:p.Ala442Thr" }, "RefSeq": { "hgvs": "NP_000172.2:p.Ala442Thr" } } } }, { "coordinates": [ { "allele": "A", "end": 1455, "referenceAllele": "G", "start": 1454 } ], "gene": "http://reg.genome.network/gene/GN004696", "geneNCBI_id": 2990, "geneSymbol": "GUSB", "hgvs": [ "ENST00000304895.8:c.1324G>A" ], "proteinEffect": { "hgvs": "ENSP00000302728.4:p.Ala442Thr", "hgvsWellDefined": "ENSP00000302728.4:p.Ala442Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS255527" }, { "coordinates": [ { "allele": "A", "end": 914, "referenceAllele": "G", "start": 913 } ], "gene": "http://reg.genome.network/gene/GN004696", "geneNCBI_id": 2990, "geneSymbol": "GUSB", "hgvs": [ "ENST00000421103.5:c.886G>A" ], "proteinEffect": { "hgvs": "ENSP00000391390.1:p.Ala296Thr", "hgvsWellDefined": "ENSP00000391390.1:p.Ala296Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS286638" }, { "coordinates": [ { "allele": "A", "end": 1028, "referenceAllele": "G", "start": 1027 } ], "gene": "http://reg.genome.network/gene/GN004696", "geneNCBI_id": 2990, "geneSymbol": "GUSB", "hgvs": [ "ENST00000430730.5:c.*591G>A" ], "proteinEffect": { "hgvs": "ENSP00000411859.1:n.*591G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS291283" }, { "coordinates": [ { "allele": "A", "end": 1152, "referenceAllele": "G", "start": 1151 } ], "gene": "http://reg.genome.network/gene/GN004696", "geneNCBI_id": 2990, "geneSymbol": "GUSB", "hgvs": [ "ENST00000447929.5:c.*704G>A" ], "proteinEffect": { "hgvs": "ENSP00000411262.1:n.*704G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS299491" }, { "coordinates": [ { "allele": "A", "end": 362, "referenceAllele": "G", "start": 361 } ], "gene": "http://reg.genome.network/gene/GN004696", "geneNCBI_id": 2990, "geneSymbol": "GUSB", "hgvs": [ "ENST00000462371.1:n.362G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS306643" }, { "coordinates": [ { "allele": "A", "end": 557, "referenceAllele": "G", "start": 556 } ], "gene": "http://reg.genome.network/gene/GN004696", "geneNCBI_id": 2990, "geneSymbol": "GUSB", "hgvs": [ "ENST00000465785.5:n.557G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS309316" }, { "coordinates": [ { "allele": "A", "end": 1799, "referenceAllele": "G", "start": 1798 } ], "gene": "http://reg.genome.network/gene/GN004696", "geneNCBI_id": 2990, "geneSymbol": "GUSB", "hgvs": [ "ENST00000466883.5:n.1799G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS310133" }, { "coordinates": [ { "allele": "A", "end": 447, "referenceAllele": "G", "start": 446 } ], "gene": "http://reg.genome.network/gene/GN004696", "geneNCBI_id": 2990, "geneSymbol": "GUSB", "hgvs": [ "ENST00000479038.1:n.447G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS319507" }, { "@id": "http://reg.genome.network/allele/PA2580107450", "coordinates": [ { "allele": "A", "end": 1455, "referenceAllele": "G", "start": 1454 } ], "gene": "http://reg.genome.network/gene/GN004696", "geneNCBI_id": 2990, "geneSymbol": "GUSB", "hgvs": [ "NM_000181.3:c.1324G>A" ], "proteinEffect": { "hgvs": "NP_000172.2:p.Ala442Thr", "hgvsWellDefined": "NP_000172.2:p.Ala442Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS006243" }, { "@id": "http://reg.genome.network/allele/PA2826687752", "coordinates": [ { "allele": "A", "end": 1017, "referenceAllele": "G", "start": 1016 } ], "gene": "http://reg.genome.network/gene/GN004696", "geneNCBI_id": 2990, "geneSymbol": "GUSB", "hgvs": [ "NM_001284290.1:c.886G>A" ], "proteinEffect": { "hgvs": "NP_001271219.1:p.Ala296Thr", "hgvsWellDefined": "NP_001271219.1:p.Ala296Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS022544" }, { "@id": "http://reg.genome.network/allele/PA2826822297", "coordinates": [ { "allele": "A", "end": 1270, "referenceAllele": "G", "start": 1269 } ], "gene": "http://reg.genome.network/gene/GN004696", "geneNCBI_id": 2990, "geneSymbol": "GUSB", "hgvs": [ "NM_001293104.1:c.754G>A" ], "proteinEffect": { "hgvs": "NP_001280033.1:p.Ala252Thr", "hgvsWellDefined": "NP_001280033.1:p.Ala252Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS024484" }, { "@id": "http://reg.genome.network/allele/PA2826822534", "coordinates": [ { "allele": "A", "end": 1127, "referenceAllele": "G", "start": 1126 } ], "gene": "http://reg.genome.network/gene/GN004696", "geneNCBI_id": 2990, "geneSymbol": "GUSB", "hgvs": [ "NM_001293105.1:c.667G>A" ], "proteinEffect": { "hgvs": "NP_001280034.1:p.Ala223Thr", "hgvsWellDefined": "NP_001280034.1:p.Ala223Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS024485" }, { "coordinates": [ { "allele": "A", "end": 1455, "referenceAllele": "G", "start": 1454 } ], "gene": "http://reg.genome.network/gene/GN004696", "geneNCBI_id": 2990, "geneSymbol": "GUSB", "hgvs": [ "NR_120531.1:n.1455G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS055408" }, { "coordinates": [ { "allele": "A", "end": 1297, "referenceAllele": "G", "start": 1296 } ], "gene": "http://reg.genome.network/gene/GN004696", "geneNCBI_id": 2990, "geneSymbol": "GUSB", "hgvs": [ "XM_005250297.3:c.1171G>A" ], "proteinEffect": { "hgvs": "XP_005250354.1:p.Ala391Thr", "hgvsWellDefined": "XP_005250354.1:p.Ala391Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS059136" }, { "coordinates": [ { "allele": "A", "end": 1199, "referenceAllele": "G", "start": 1198 } ], "gene": "http://reg.genome.network/gene/GN004696", "geneNCBI_id": 2990, "geneSymbol": "GUSB", "hgvs": [ "XM_011516113.1:c.823G>A" ], "proteinEffect": { "hgvs": "XP_011514415.1:p.Ala275Thr", "hgvsWellDefined": "XP_011514415.1:p.Ala275Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS083316" }, { "coordinates": [ { "allele": "A", "end": 1127, "referenceAllele": "G", "start": 1126 } ], "gene": "http://reg.genome.network/gene/GN004696", "geneNCBI_id": 2990, "geneSymbol": "GUSB", "hgvs": [ "XM_011516114.1:c.652G>A" ], "proteinEffect": { "hgvs": "XP_011514416.1:p.Ala218Thr", "hgvsWellDefined": "XP_011514416.1:p.Ala218Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS083317" }, { "coordinates": [ { "allele": "A", "end": 1410, "referenceAllele": "G", "start": 1409 } ], "gene": "http://reg.genome.network/gene/GN004696", "geneNCBI_id": 2990, "geneSymbol": "GUSB", "hgvs": [ "XR_927461.1:n.1410G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS123866" }, { "coordinates": [ { "allele": "A", "end": 1216, "referenceAllele": "G", "start": 1215 } ], "gene": "http://reg.genome.network/gene/GN004696", "geneNCBI_id": 2990, "geneSymbol": "GUSB", "hgvs": [ "XM_005250297.4:c.1171G>A" ], "proteinEffect": { "hgvs": "XP_005250354.1:p.Ala391Thr", "hgvsWellDefined": "XP_005250354.1:p.Ala391Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS533417" }, { "coordinates": [ { "allele": "A", "end": 1348, "referenceAllele": "G", "start": 1347 } ], "gene": "http://reg.genome.network/gene/GN004696", "geneNCBI_id": 2990, "geneSymbol": "GUSB", "hgvs": [ "XM_011516114.2:c.652G>A" ], "proteinEffect": { "hgvs": "XP_011514416.1:p.Ala218Thr", "hgvsWellDefined": "XP_011514416.1:p.Ala218Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS544028" }, { "coordinates": [ { "allele": "A", "end": 1046, "referenceAllele": "G", "start": 1045 } ], "gene": "http://reg.genome.network/gene/GN004696", "geneNCBI_id": 2990, "geneSymbol": "GUSB", "hgvs": [ "XM_017012091.1:c.670G>A" ], "proteinEffect": { "hgvs": "XP_016867580.1:p.Ala224Thr", "hgvsWellDefined": "XP_016867580.1:p.Ala224Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS565781" }, { "coordinates": [ { "allele": "A", "end": 1033, "referenceAllele": "G", "start": 1032 } ], "gene": "http://reg.genome.network/gene/GN004696", "geneNCBI_id": 2990, "geneSymbol": "GUSB", "hgvs": [ "XM_017012092.1:c.601G>A" ], "proteinEffect": { "hgvs": "XP_016867581.1:p.Ala201Thr", "hgvsWellDefined": "XP_016867581.1:p.Ala201Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS565782" }, { "coordinates": [ { "allele": "A", "end": 1195, "referenceAllele": "G", "start": 1194 } ], "gene": "http://reg.genome.network/gene/GN004696", "geneNCBI_id": 2990, "geneSymbol": "GUSB", "hgvs": [ "XM_017012093.2:c.499G>A" ], "proteinEffect": { "hgvs": "XP_016867582.1:p.Ala167Thr", "hgvsWellDefined": "XP_016867582.1:p.Ala167Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS565783" }, { "coordinates": [ { "allele": "A", "end": 1216, "referenceAllele": "G", "start": 1215 } ], "gene": "http://reg.genome.network/gene/GN004696", "geneNCBI_id": 2990, "geneSymbol": "GUSB", "hgvs": [ "XR_001744658.2:n.1216G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS593381" }, { "coordinates": [ { "allele": "A", "end": 1329, "referenceAllele": "G", "start": 1328 } ], "gene": "http://reg.genome.network/gene/GN004696", "geneNCBI_id": 2990, "geneSymbol": "GUSB", "hgvs": [ "XR_001744659.2:n.1329G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS593382" }, { "coordinates": [ { "allele": "A", "end": 1176, "referenceAllele": "G", "start": 1175 } ], "gene": "http://reg.genome.network/gene/GN004696", "geneNCBI_id": 2990, "geneSymbol": "GUSB", "hgvs": [ "XR_001744660.2:n.1176G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS593383" }, { "coordinates": [ { "allele": "A", "end": 1176, "referenceAllele": "G", "start": 1175 } ], "gene": "http://reg.genome.network/gene/GN004696", "geneNCBI_id": 2990, "geneSymbol": "GUSB", "hgvs": [ "XR_001744661.2:n.1176G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS593384" }, { "coordinates": [ { "allele": "A", "end": 1329, "referenceAllele": "G", "start": 1328 } ], "gene": "http://reg.genome.network/gene/GN004696", "geneNCBI_id": 2990, "geneSymbol": "GUSB", "hgvs": [ "XR_927461.3:n.1329G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS608548" }, { "@id": "http://reg.genome.network/allele/PA2580107450", "coordinates": [ { "allele": "A", "end": 1354, "referenceAllele": "G", "start": 1353 } ], "gene": "http://reg.genome.network/gene/GN004696", "geneNCBI_id": 2990, "geneSymbol": "GUSB", "hgvs": [ "NM_000181.4:c.1324G>A" ], "proteinEffect": { "hgvs": "NP_000172.2:p.Ala442Thr", "hgvsWellDefined": "NP_000172.2:p.Ala442Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS662341", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000304895.9:c.1324G>A" }, "RefSeq": { "hgvs": "NM_000181.4:c.1324G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000302728.4:p.Ala442Thr" }, "RefSeq": { "hgvs": "NP_000172.2:p.Ala442Thr" } } } }, { "@id": "http://reg.genome.network/allele/PA2826687752", "coordinates": [ { "allele": "A", "end": 916, "referenceAllele": "G", "start": 915 } ], "gene": "http://reg.genome.network/gene/GN004696", "geneNCBI_id": 2990, "geneSymbol": "GUSB", "hgvs": [ "NM_001284290.2:c.886G>A" ], "proteinEffect": { "hgvs": "NP_001271219.1:p.Ala296Thr", "hgvsWellDefined": "NP_001271219.1:p.Ala296Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS682044" }, { "@id": "http://reg.genome.network/allele/PA2826822297", "coordinates": [ { "allele": "A", "end": 1169, "referenceAllele": "G", "start": 1168 } ], "gene": "http://reg.genome.network/gene/GN004696", "geneNCBI_id": 2990, "geneSymbol": "GUSB", "hgvs": [ "NM_001293104.2:c.754G>A" ], "proteinEffect": { "hgvs": "NP_001280033.1:p.Ala252Thr", "hgvsWellDefined": "NP_001280033.1:p.Ala252Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS682970" }, { "@id": "http://reg.genome.network/allele/PA2826822534", "coordinates": [ { "allele": "A", "end": 1026, "referenceAllele": "G", "start": 1025 } ], "gene": "http://reg.genome.network/gene/GN004696", "geneNCBI_id": 2990, "geneSymbol": "GUSB", "hgvs": [ "NM_001293105.2:c.667G>A" ], "proteinEffect": { "hgvs": "NP_001280034.1:p.Ala223Thr", "hgvsWellDefined": "NP_001280034.1:p.Ala223Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS682971" }, { "coordinates": [ { "allele": "A", "end": 1354, "referenceAllele": "G", "start": 1353 } ], "gene": "http://reg.genome.network/gene/GN004696", "geneNCBI_id": 2990, "geneSymbol": "GUSB", "hgvs": [ "NR_120531.2:n.1354G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS703205" } ], "type": "nucleotide" }