{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA413923429", "communityStandardTitle": [ "NM_000169.3(GLA):c.811G>A (p.Gly271Ser)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=951562[alleleid]", "alleleId": 951562, "preferredName": "NM_000169.3(GLA):c.811G>A (p.Gly271Ser)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/964447", "RCV": [ "RCV001238670" ], "variationId": 964447 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.100653546C>T?assembly=hg19", "id": "chrX:g.100653546C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.101398558C>T?assembly=hg38", "id": "chrX:g.101398558C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1928174707", "rs": 1928174707 } ] }, "genomicAlleles": [ { "chromosome": "X", "coordinates": [ { "allele": "T", "end": 101398558, "referenceAllele": "C", "start": 101398557 } ], "hgvs": [ "NC_000023.11:g.101398558C>T", "CM000685.2:g.101398558C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000071" }, { "chromosome": "X", "coordinates": [ { "allele": "T", "end": 100653546, "referenceAllele": "C", "start": 100653545 } ], "hgvs": [ "NC_000023.10:g.100653546C>T", "CM000685.1:g.100653546C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000047" }, { "chromosome": "X", "coordinates": [ { "allele": "T", "end": 100540202, "referenceAllele": "C", "start": 100540201 } ], "hgvs": [ "NC_000023.9:g.100540202C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000023" }, { "coordinates": [ { "allele": "A", "end": 14406, "referenceAllele": "G", "start": 14405 } ], "hgvs": [ "NG_007119.1:g.14406G>A", "LRG_672:g.14406G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS000493" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 948, "referenceAllele": "G", "start": 947 } ], "gene": "http://reg.genome.network/gene/GN004296", "geneNCBI_id": 2717, "geneSymbol": "GLA", "hgvs": [ "ENST00000486121.7:c.*257G>A" ], "proteinEffect": { "hgvs": "ENSP00000501124.2:n.*257G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS914147" }, { "coordinates": [ { "allele": "A", "end": 1005, "referenceAllele": "G", "start": 1004 } ], "gene": "http://reg.genome.network/gene/GN004296", "geneNCBI_id": 2717, "geneSymbol": "GLA", "hgvs": [ "ENST00000674127.2:c.*314G>A" ], "proteinEffect": { "hgvs": "ENSP00000501044.2:n.*314G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS914452" }, { "coordinates": [ { "allele": "A", "end": 908, "referenceAllele": "G", "start": 907 } ], "gene": "http://reg.genome.network/gene/GN004296", "geneNCBI_id": 2717, "geneSymbol": "GLA", "hgvs": [ "ENST00000710365.1:c.886G>A" ], "proteinEffect": { "hgvs": "ENSP00000518234.1:p.Gly296Ser", "hgvsWellDefined": "ENSP00000518234.1:p.Gly296Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS914527" }, { "coordinates": [ { "allele": "A", "end": 833, "referenceAllele": "G", "start": 832 } ], "gene": "http://reg.genome.network/gene/GN004296", "geneNCBI_id": 2717, "geneSymbol": "GLA", "hgvs": [ "ENST00000218516.4:c.811G>A" ], "proteinEffect": { "hgvs": "ENSP00000218516.4:p.Gly271Ser", "hgvsWellDefined": "ENSP00000218516.4:p.Gly271Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS740403", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000218516.4:c.811G>A" }, "RefSeq": { "hgvs": "NM_000169.3:c.811G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000218516.4:p.Gly271Ser" }, "RefSeq": { "hgvs": "NP_000160.1:p.Gly271Ser" } } } }, { "coordinates": [ { "allele": "A", "end": 947, "referenceAllele": "G", "start": 946 } ], "gene": "http://reg.genome.network/gene/GN004296", "geneNCBI_id": 2717, "geneSymbol": "GLA", "hgvs": [ "ENST00000466414.2:n.947G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS756873" }, { "coordinates": [ { "allele": "A", "end": 1963, "referenceAllele": "G", "start": 1962 } ], "gene": "http://reg.genome.network/gene/GN004296", "geneNCBI_id": 2717, "geneSymbol": "GLA", "hgvs": [ "ENST00000468823.2:n.1963G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS756949" }, { "coordinates": [ { "allele": "A", "end": 1425, "referenceAllele": "G", "start": 1424 } ], "gene": "http://reg.genome.network/gene/GN004296", "geneNCBI_id": 2717, "geneSymbol": "GLA", "hgvs": [ "ENST00000479445.2:n.1425G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS757304" }, { "coordinates": [ { "allele": "A", "end": 828, "referenceAllele": "G", "start": 827 } ], "gene": "http://reg.genome.network/gene/GN004296", "geneNCBI_id": 2717, "geneSymbol": "GLA", "hgvs": [ "ENST00000480513.6:c.*119G>A" ], "proteinEffect": { "hgvs": "ENSP00000497055.1:n.*119G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS757332" }, { "coordinates": [ { "allele": "A", "end": 856, "referenceAllele": "G", "start": 855 } ], "gene": "http://reg.genome.network/gene/GN004296", "geneNCBI_id": 2717, "geneSymbol": "GLA", "hgvs": [ "ENST00000486121.6:c.856G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS757527" }, { "coordinates": [ { "allele": "A", "end": 943, "referenceAllele": "G", "start": 942 } ], "gene": "http://reg.genome.network/gene/GN004296", "geneNCBI_id": 2717, "geneSymbol": "GLA", "hgvs": [ "ENST00000649178.1:c.934G>A" ], "proteinEffect": { "hgvs": "ENSP00000498186.1:p.Gly312Ser", "hgvsWellDefined": "ENSP00000498186.1:p.Gly312Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS770391" }, { "coordinates": [ { "allele": "A", "end": 911, "referenceAllele": "G", "start": 910 } ], "gene": "http://reg.genome.network/gene/GN004296", "geneNCBI_id": 2717, "geneSymbol": "GLA", "hgvs": [ "ENST00000674127.1:c.911G>A" ], "proteinEffect": { "hgvs": "ENSP00000501044.1:n.911G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS774146" }, { "coordinates": [ { "allele": "A", "end": 1115, "referenceAllele": "G", "start": 1114 } ], "gene": "http://reg.genome.network/gene/GN004296", "geneNCBI_id": 2717, "geneSymbol": "GLA", "hgvs": [ "ENST00000674142.1:n.1115G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS774159" }, { "coordinates": [ { "allele": "A", "end": 811, "referenceAllele": "G", "start": 810 } ], "gene": "http://reg.genome.network/gene/GN004296", "geneNCBI_id": 2717, "geneSymbol": "GLA", "hgvs": [ "ENST00000674634.2:c.811G>A" ], "proteinEffect": { "hgvs": "ENSP00000502629.2:p.Gly271Ser", "hgvsWellDefined": "ENSP00000502629.2:p.Gly271Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS774573" }, { "coordinates": [ { "allele": "A", "end": 801, "endIntronDirection": "+", "endIntronOffset": 227, "referenceAllele": "G", "start": 801, "startIntronDirection": "+", "startIntronOffset": 226 } ], "gene": "http://reg.genome.network/gene/GN004296", "geneNCBI_id": 2717, "geneSymbol": "GLA", "hgvs": [ "ENST00000675592.1:c.801+227G>A" ], "proteinEffect": { "hgvs": "ENSP00000502239.1:n.801+227G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS775388" }, { "coordinates": [ { "allele": "A", "end": 995, "referenceAllele": "G", "start": 994 } ], "gene": "http://reg.genome.network/gene/GN004296", "geneNCBI_id": 2717, "geneSymbol": "GLA", "hgvs": [ "ENST00000675799.1:c.*336G>A" ], "proteinEffect": { "hgvs": "ENSP00000502661.1:n.*336G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS775570" }, { "coordinates": [ { "allele": "A", "end": 3682, "referenceAllele": "G", "start": 3681 } ], "gene": "http://reg.genome.network/gene/GN004296", "geneNCBI_id": 2717, "geneSymbol": "GLA", "hgvs": [ "ENST00000675968.1:n.3682G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS775716" }, { "coordinates": [ { "allele": "A", "end": 775, "referenceAllele": "G", "start": 774 } ], "gene": "http://reg.genome.network/gene/GN004296", "geneNCBI_id": 2717, "geneSymbol": "GLA", "hgvs": [ "ENST00000676156.1:c.775G>A" ], "proteinEffect": { "hgvs": "ENSP00000501730.1:p.Gly259Ser", "hgvsWellDefined": "ENSP00000501730.1:p.Gly259Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS775877" }, { "coordinates": [ { "allele": "A", "end": 877, "referenceAllele": "G", "start": 876 } ], "gene": "http://reg.genome.network/gene/GN004296", "geneNCBI_id": 2717, "geneSymbol": "GLA", "hgvs": [ "ENST00000676372.1:c.877G>A" ], "proteinEffect": { "hgvs": "ENSP00000502805.1:n.877G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS776062" }, { "coordinates": [ { "allele": "A", "end": 833, "referenceAllele": "G", "start": 832 } ], "gene": "http://reg.genome.network/gene/GN004296", "geneNCBI_id": 2717, "geneSymbol": "GLA", "hgvs": [ "ENST00000218516.3:c.811G>A" ], "proteinEffect": { "hgvs": "ENSP00000218516.3:p.Gly271Ser", "hgvsWellDefined": "ENSP00000218516.3:p.Gly271Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS247314" }, { "coordinates": [ { "allele": "T", "end": 332, "endIntronDirection": "+", "endIntronOffset": 3101, "referenceAllele": "C", "start": 332, "startIntronDirection": "+", "startIntronOffset": 3100 } ], "gene": "http://reg.genome.network/gene/GN048349", "geneNCBI_id": 100529097, "geneSymbol": "RPL36A-HNRNPH2", "hgvs": [ "ENST00000409170.3:c.300+3101C>T" ], "proteinEffect": { "hgvs": "ENSP00000386655.4:n.300+3101C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS247292" }, { "coordinates": [ { "allele": "T", "end": 210, "endIntronDirection": "+", "endIntronOffset": 6736, "referenceAllele": "C", "start": 210, "startIntronDirection": "+", "startIntronOffset": 6735 } ], "gene": "http://reg.genome.network/gene/GN048349", "geneNCBI_id": 100529097, "geneSymbol": "RPL36A-HNRNPH2", "hgvs": [ "ENST00000409338.5:c.177+6736C>T" ], "proteinEffect": { "hgvs": "ENSP00000386974.2:n.177+6736C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS247190" }, { "coordinates": [ { "allele": "A", "end": 137, "referenceAllele": "G", "start": 136 } ], "gene": "http://reg.genome.network/gene/GN004296", "geneNCBI_id": 2717, "geneSymbol": "GLA", "hgvs": [ "ENST00000466414.1:n.137G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS309790" }, { "coordinates": [ { "allele": "A", "end": 577, "referenceAllele": "G", "start": 576 } ], "gene": "http://reg.genome.network/gene/GN004296", "geneNCBI_id": 2717, "geneSymbol": "GLA", "hgvs": [ "ENST00000468823.1:n.577G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS311649" }, { "coordinates": [ { "allele": "A", "end": 873, "referenceAllele": "G", "start": 872 } ], "gene": "http://reg.genome.network/gene/GN004296", "geneNCBI_id": 2717, "geneSymbol": "GLA", "hgvs": [ "ENST00000493905.6:c.*199G>A" ], "proteinEffect": { "hgvs": "ENSP00000476935.1:n.*199G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS330958" }, { "@id": "http://reg.genome.network/allele/PA1139669672", "coordinates": [ { "allele": "A", "end": 921, "referenceAllele": "G", "start": 920 } ], "gene": "http://reg.genome.network/gene/GN004296", "geneNCBI_id": 2717, "geneSymbol": "GLA", "hgvs": [ "NM_000169.2:c.811G>A", "LRG_672t1:c.811G>A" ], "proteinEffect": { "hgvs": "NP_000160.1:p.Gly271Ser", "hgvsWellDefined": "NP_000160.1:p.Gly271Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS006231" }, { "coordinates": [ { "allele": "T", "end": 454, "endIntronDirection": "+", "endIntronOffset": 3101, "referenceAllele": "C", "start": 454, "startIntronDirection": "+", "startIntronOffset": 3100 } ], "gene": "http://reg.genome.network/gene/GN048349", "geneNCBI_id": 100529097, "geneSymbol": "RPL36A-HNRNPH2", "hgvs": [ "NM_001199973.1:c.408+3101C>T" ], "proteinEffect": { "hgvs": "NP_001186902.1:n.408+3101C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS017283" }, { "coordinates": [ { "allele": "T", "end": 331, "endIntronDirection": "+", "endIntronOffset": 6736, "referenceAllele": "C", "start": 331, "startIntronDirection": "+", "startIntronOffset": 6735 } ], "gene": "http://reg.genome.network/gene/GN048349", "geneNCBI_id": 100529097, "geneSymbol": "RPL36A-HNRNPH2", "hgvs": [ "NM_001199974.1:c.285+6736C>T" ], "proteinEffect": { "hgvs": "NP_001186903.1:n.285+6736C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS017284" }, { "coordinates": [ { "allele": "A", "end": 896, "referenceAllele": "G", "start": 895 } ], "gene": "http://reg.genome.network/gene/GN004296", "geneNCBI_id": 2717, "geneSymbol": "GLA", "hgvs": [ "XR_938397.1:n.896G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS133095" }, { "coordinates": [ { "allele": "A", "end": 917, "referenceAllele": "G", "start": 916 } ], "gene": "http://reg.genome.network/gene/GN004296", "geneNCBI_id": 2717, "geneSymbol": "GLA", "hgvs": [ "XR_938397.2:n.917G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS611908" }, { "coordinates": [ { "allele": "T", "end": 333, "endIntronDirection": "+", "endIntronOffset": 3101, "referenceAllele": "C", "start": 333, "startIntronDirection": "+", "startIntronOffset": 3100 } ], "gene": "http://reg.genome.network/gene/GN048349", "geneNCBI_id": 100529097, "geneSymbol": "RPL36A-HNRNPH2", "hgvs": [ "NM_001199973.2:c.300+3101C>T" ], "proteinEffect": { "hgvs": "NP_001186902.2:n.300+3101C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS664003" }, { "coordinates": [ { "allele": "T", "end": 210, "endIntronDirection": "+", "endIntronOffset": 6736, "referenceAllele": "C", "start": 210, "startIntronDirection": "+", "startIntronOffset": 6735 } ], "gene": "http://reg.genome.network/gene/GN048349", "geneNCBI_id": 100529097, "geneSymbol": "RPL36A-HNRNPH2", "hgvs": [ "NM_001199974.2:c.177+6736C>T" ], "proteinEffect": { "hgvs": "NP_001186903.2:n.177+6736C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS664004" }, { "@id": "http://reg.genome.network/allele/PA1139669672", "coordinates": [ { "allele": "A", "end": 833, "referenceAllele": "G", "start": 832 } ], "gene": "http://reg.genome.network/gene/GN004296", "geneNCBI_id": 2717, "geneSymbol": "GLA", "hgvs": [ "NM_000169.3:c.811G>A" ], "proteinEffect": { "hgvs": "NP_000160.1:p.Gly271Ser", "hgvsWellDefined": "NP_000160.1:p.Gly271Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS674733", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000218516.4:c.811G>A" }, "RefSeq": { "hgvs": "NM_000169.3:c.811G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000218516.4:p.Gly271Ser" }, "RefSeq": { "hgvs": "NP_000160.1:p.Gly271Ser" } } } }, { "coordinates": [ { "allele": "A", "end": 890, "referenceAllele": "G", "start": 889 } ], "gene": "http://reg.genome.network/gene/GN004296", "geneNCBI_id": 2717, "geneSymbol": "GLA", "hgvs": [ "NR_164783.1:n.890G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS705867" } ], "type": "nucleotide" }