{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA352923", "communityStandardTitle": [ "NM_000169.3(GLA):c.511G>A (p.Gly171Ser)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=224041[alleleid]", "alleleId": 224041, "preferredName": "NM_000169.3(GLA):c.511G>A (p.Gly171Ser)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/222274", "RCV": [ "RCV001781619", "RCV001374747" ], "variationId": 222274 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.100656656C>T?assembly=hg19", "id": "chrX:g.100656656C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.101401668C>T?assembly=hg38", "id": "chrX:g.101401668C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/869312317", "rs": 869312317 } ] }, "genomicAlleles": [ { "chromosome": "X", "coordinates": [ { "allele": "T", "end": 101401668, "referenceAllele": "C", "start": 101401667 } ], "hgvs": [ "NC_000023.11:g.101401668C>T", "CM000685.2:g.101401668C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000071" }, { "chromosome": "X", "coordinates": [ { "allele": "T", "end": 100656656, "referenceAllele": "C", "start": 100656655 } ], "hgvs": [ "NC_000023.10:g.100656656C>T", "CM000685.1:g.100656656C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000047" }, { "chromosome": "X", "coordinates": [ { "allele": "T", "end": 100543312, "referenceAllele": "C", "start": 100543311 } ], "hgvs": [ "NC_000023.9:g.100543312C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000023" }, { "coordinates": [ { "allele": "A", "end": 11296, "referenceAllele": "G", "start": 11295 } ], "hgvs": [ "NG_007119.1:g.11296G>A", "LRG_672:g.11296G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS000493" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 533, "referenceAllele": "G", "start": 532 } ], "gene": "http://reg.genome.network/gene/GN004296", "geneNCBI_id": 2717, "geneSymbol": "GLA", "hgvs": [ "ENST00000486121.7:c.511G>A" ], "proteinEffect": { "hgvs": "ENSP00000501124.2:p.Gly171Ser", "hgvsWellDefined": "ENSP00000501124.2:p.Gly171Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS914147" }, { "coordinates": [ { "allele": "A", "end": 533, "referenceAllele": "G", "start": 532 } ], "gene": "http://reg.genome.network/gene/GN004296", "geneNCBI_id": 2717, "geneSymbol": "GLA", "hgvs": [ "ENST00000674127.2:c.511G>A" ], "proteinEffect": { "hgvs": "ENSP00000501044.2:p.Gly171Ser", "hgvsWellDefined": "ENSP00000501044.2:p.Gly171Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS914452" }, { "coordinates": [ { "allele": "A", "end": 608, "referenceAllele": "G", "start": 607 } ], "gene": "http://reg.genome.network/gene/GN004296", "geneNCBI_id": 2717, "geneSymbol": "GLA", "hgvs": [ "ENST00000710365.1:c.586G>A" ], "proteinEffect": { "hgvs": "ENSP00000518234.1:p.Gly196Ser", "hgvsWellDefined": "ENSP00000518234.1:p.Gly196Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS914527" }, { "coordinates": [ { "allele": "A", "end": 533, "referenceAllele": "G", "start": 532 } ], "gene": "http://reg.genome.network/gene/GN004296", "geneNCBI_id": 2717, "geneSymbol": "GLA", "hgvs": [ "ENST00000218516.4:c.511G>A" ], "proteinEffect": { "hgvs": "ENSP00000218516.4:p.Gly171Ser", "hgvsWellDefined": "ENSP00000218516.4:p.Gly171Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS740403", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000218516.4:c.511G>A" }, "RefSeq": { "hgvs": "NM_000169.3:c.511G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000218516.4:p.Gly171Ser" }, "RefSeq": { "hgvs": "NP_000160.1:p.Gly171Ser" } } } }, { "coordinates": [ { "allele": "A", "end": 430, "referenceAllele": "G", "start": 429 } ], "gene": "http://reg.genome.network/gene/GN004296", "geneNCBI_id": 2717, "geneSymbol": "GLA", "hgvs": [ "ENST00000466414.2:n.430G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS756873" }, { "coordinates": [ { "allele": "A", "end": 572, "referenceAllele": "G", "start": 571 } ], "gene": "http://reg.genome.network/gene/GN004296", "geneNCBI_id": 2717, "geneSymbol": "GLA", "hgvs": [ "ENST00000468823.2:n.572G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS756949" }, { "coordinates": [ { "allele": "A", "end": 509, "referenceAllele": "G", "start": 508 } ], "gene": "http://reg.genome.network/gene/GN004296", "geneNCBI_id": 2717, "geneSymbol": "GLA", "hgvs": [ "ENST00000479445.2:n.509G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS757304" }, { "coordinates": [ { "allele": "A", "end": 620, "referenceAllele": "G", "start": 619 } ], "gene": "http://reg.genome.network/gene/GN004296", "geneNCBI_id": 2717, "geneSymbol": "GLA", "hgvs": [ "ENST00000480513.6:c.511G>A" ], "proteinEffect": { "hgvs": "ENSP00000497055.1:p.Gly171Ser", "hgvsWellDefined": "ENSP00000497055.1:p.Gly171Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS757332" }, { "coordinates": [ { "allele": "A", "end": 441, "referenceAllele": "G", "start": 440 } ], "gene": "http://reg.genome.network/gene/GN004296", "geneNCBI_id": 2717, "geneSymbol": "GLA", "hgvs": [ "ENST00000486121.6:c.441G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS757527" }, { "coordinates": [ { "allele": "A", "end": 643, "referenceAllele": "G", "start": 642 } ], "gene": "http://reg.genome.network/gene/GN004296", "geneNCBI_id": 2717, "geneSymbol": "GLA", "hgvs": [ "ENST00000649178.1:c.634G>A" ], "proteinEffect": { "hgvs": "ENSP00000498186.1:p.Gly212Ser", "hgvsWellDefined": "ENSP00000498186.1:p.Gly212Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS770391" }, { "coordinates": [ { "allele": "A", "end": 439, "referenceAllele": "G", "start": 438 } ], "gene": "http://reg.genome.network/gene/GN004296", "geneNCBI_id": 2717, "geneSymbol": "GLA", "hgvs": [ "ENST00000674127.1:c.439G>A" ], "proteinEffect": { "hgvs": "ENSP00000501044.1:p.Gly147Ser", "hgvsWellDefined": "ENSP00000501044.1:p.Gly147Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS774146" }, { "coordinates": [ { "allele": "A", "end": 598, "referenceAllele": "G", "start": 597 } ], "gene": "http://reg.genome.network/gene/GN004296", "geneNCBI_id": 2717, "geneSymbol": "GLA", "hgvs": [ "ENST00000674142.1:n.598G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS774159" }, { "coordinates": [ { "allele": "A", "end": 511, "referenceAllele": "G", "start": 510 } ], "gene": "http://reg.genome.network/gene/GN004296", "geneNCBI_id": 2717, "geneSymbol": "GLA", "hgvs": [ "ENST00000674634.2:c.511G>A" ], "proteinEffect": { "hgvs": "ENSP00000502629.2:p.Gly171Ser", "hgvsWellDefined": "ENSP00000502629.2:p.Gly171Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS774573" }, { "coordinates": [ { "allele": "A", "end": 511, "referenceAllele": "G", "start": 510 } ], "gene": "http://reg.genome.network/gene/GN004296", "geneNCBI_id": 2717, "geneSymbol": "GLA", "hgvs": [ "ENST00000675592.1:c.511G>A" ], "proteinEffect": { "hgvs": "ENSP00000502239.1:p.Gly171Ser", "hgvsWellDefined": "ENSP00000502239.1:p.Gly171Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS775388" }, { "coordinates": [ { "allele": "A", "end": 570, "referenceAllele": "G", "start": 569 } ], "gene": "http://reg.genome.network/gene/GN004296", "geneNCBI_id": 2717, "geneSymbol": "GLA", "hgvs": [ "ENST00000675799.1:c.511G>A" ], "proteinEffect": { "hgvs": "ENSP00000502661.1:p.Gly171Ser", "hgvsWellDefined": "ENSP00000502661.1:p.Gly171Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS775570" }, { "coordinates": [ { "allele": "A", "end": 572, "referenceAllele": "G", "start": 571 } ], "gene": "http://reg.genome.network/gene/GN004296", "geneNCBI_id": 2717, "geneSymbol": "GLA", "hgvs": [ "ENST00000675968.1:n.572G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS775716" }, { "coordinates": [ { "allele": "A", "end": 511, "referenceAllele": "G", "start": 510 } ], "gene": "http://reg.genome.network/gene/GN004296", "geneNCBI_id": 2717, "geneSymbol": "GLA", "hgvs": [ "ENST00000676156.1:c.511G>A" ], "proteinEffect": { "hgvs": "ENSP00000501730.1:p.Gly171Ser", "hgvsWellDefined": "ENSP00000501730.1:p.Gly171Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS775877" }, { "coordinates": [ { "allele": "A", "end": 511, "referenceAllele": "G", "start": 510 } ], "gene": "http://reg.genome.network/gene/GN004296", "geneNCBI_id": 2717, "geneSymbol": "GLA", "hgvs": [ "ENST00000676372.1:c.511G>A" ], "proteinEffect": { "hgvs": "ENSP00000502805.1:p.Gly171Ser", "hgvsWellDefined": "ENSP00000502805.1:p.Gly171Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS776062" }, { "coordinates": [ { "allele": "A", "end": 533, "referenceAllele": "G", "start": 532 } ], "gene": "http://reg.genome.network/gene/GN004296", "geneNCBI_id": 2717, "geneSymbol": "GLA", "hgvs": [ "ENST00000218516.3:c.511G>A" ], "proteinEffect": { "hgvs": "ENSP00000218516.3:p.Gly171Ser", "hgvsWellDefined": "ENSP00000218516.3:p.Gly171Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS247314" }, { "coordinates": [ { "allele": "T", "end": 332, "endIntronDirection": "+", "endIntronOffset": 6211, "referenceAllele": "C", "start": 332, "startIntronDirection": "+", "startIntronOffset": 6210 } ], "gene": "http://reg.genome.network/gene/GN048349", "geneNCBI_id": 100529097, "geneSymbol": "RPL36A-HNRNPH2", "hgvs": [ "ENST00000409170.3:c.300+6211C>T" ], "proteinEffect": { "hgvs": "ENSP00000386655.4:n.300+6211C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS247292" }, { "coordinates": [ { "allele": "T", "end": 210, "endIntronDirection": "+", "endIntronOffset": 9846, "referenceAllele": "C", "start": 210, "startIntronDirection": "+", "startIntronOffset": 9845 } ], "gene": "http://reg.genome.network/gene/GN048349", "geneNCBI_id": 100529097, "geneSymbol": "RPL36A-HNRNPH2", "hgvs": [ "ENST00000409338.5:c.177+9846C>T" ], "proteinEffect": { "hgvs": "ENSP00000386974.2:n.177+9846C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS247190" }, { "coordinates": [ { "allele": "A", "end": 495, "referenceAllele": "G", "start": 494 } ], "gene": "http://reg.genome.network/gene/GN004296", "geneNCBI_id": 2717, "geneSymbol": "GLA", "hgvs": [ "ENST00000479445.1:n.495G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS319822" }, { "coordinates": [ { "allele": "A", "end": 441, "referenceAllele": "G", "start": 440 } ], "gene": "http://reg.genome.network/gene/GN004296", "geneNCBI_id": 2717, "geneSymbol": "GLA", "hgvs": [ "ENST00000480513.5:n.441G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS320644" }, { "coordinates": [ { "allele": "A", "end": 441, "referenceAllele": "G", "start": 440 } ], "gene": "http://reg.genome.network/gene/GN004296", "geneNCBI_id": 2717, "geneSymbol": "GLA", "hgvs": [ "ENST00000486121.5:n.441G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS325003" }, { "coordinates": [ { "allele": "A", "end": 516, "referenceAllele": "G", "start": 515 } ], "gene": "http://reg.genome.network/gene/GN004296", "geneNCBI_id": 2717, "geneSymbol": "GLA", "hgvs": [ "ENST00000493905.6:c.511G>A" ], "proteinEffect": { "hgvs": "ENSP00000476935.1:p.Gly171Ser", "hgvsWellDefined": "ENSP00000476935.1:p.Gly171Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS330958" }, { "@id": "http://reg.genome.network/allele/PA352925", "coordinates": [ { "allele": "A", "end": 621, "referenceAllele": "G", "start": 620 } ], "gene": "http://reg.genome.network/gene/GN004296", "geneNCBI_id": 2717, "geneSymbol": "GLA", "hgvs": [ "NM_000169.2:c.511G>A", "LRG_672t1:c.511G>A" ], "proteinEffect": { "hgvs": "NP_000160.1:p.Gly171Ser", "hgvsWellDefined": "NP_000160.1:p.Gly171Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS006231" }, { "coordinates": [ { "allele": "T", "end": 454, "endIntronDirection": "+", "endIntronOffset": 6211, "referenceAllele": "C", "start": 454, "startIntronDirection": "+", "startIntronOffset": 6210 } ], "gene": "http://reg.genome.network/gene/GN048349", "geneNCBI_id": 100529097, "geneSymbol": "RPL36A-HNRNPH2", "hgvs": [ "NM_001199973.1:c.408+6211C>T" ], "proteinEffect": { "hgvs": "NP_001186902.1:n.408+6211C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS017283" }, { "coordinates": [ { "allele": "T", "end": 331, "endIntronDirection": "+", "endIntronOffset": 9846, "referenceAllele": "C", "start": 331, "startIntronDirection": "+", "startIntronOffset": 9845 } ], "gene": "http://reg.genome.network/gene/GN048349", "geneNCBI_id": 100529097, "geneSymbol": "RPL36A-HNRNPH2", "hgvs": [ "NM_001199974.1:c.285+9846C>T" ], "proteinEffect": { "hgvs": "NP_001186903.1:n.285+9846C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS017284" }, { "coordinates": [ { "allele": "A", "end": 539, "referenceAllele": "G", "start": 538 } ], "gene": "http://reg.genome.network/gene/GN004296", "geneNCBI_id": 2717, "geneSymbol": "GLA", "hgvs": [ "XR_938397.1:n.539G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS133095" }, { "coordinates": [ { "allele": "A", "end": 560, "referenceAllele": "G", "start": 559 } ], "gene": "http://reg.genome.network/gene/GN004296", "geneNCBI_id": 2717, "geneSymbol": "GLA", "hgvs": [ "XR_938397.2:n.560G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS611908" }, { "coordinates": [ { "allele": "T", "end": 333, "endIntronDirection": "+", "endIntronOffset": 6211, "referenceAllele": "C", "start": 333, "startIntronDirection": "+", "startIntronOffset": 6210 } ], "gene": "http://reg.genome.network/gene/GN048349", "geneNCBI_id": 100529097, "geneSymbol": "RPL36A-HNRNPH2", "hgvs": [ "NM_001199973.2:c.300+6211C>T" ], "proteinEffect": { "hgvs": "NP_001186902.2:n.300+6211C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS664003" }, { "coordinates": [ { "allele": "T", "end": 210, "endIntronDirection": "+", "endIntronOffset": 9846, "referenceAllele": "C", "start": 210, "startIntronDirection": "+", "startIntronOffset": 9845 } ], "gene": "http://reg.genome.network/gene/GN048349", "geneNCBI_id": 100529097, "geneSymbol": "RPL36A-HNRNPH2", "hgvs": [ "NM_001199974.2:c.177+9846C>T" ], "proteinEffect": { "hgvs": "NP_001186903.2:n.177+9846C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS664004" }, { "@id": "http://reg.genome.network/allele/PA352925", "coordinates": [ { "allele": "A", "end": 533, "referenceAllele": "G", "start": 532 } ], "gene": "http://reg.genome.network/gene/GN004296", "geneNCBI_id": 2717, "geneSymbol": "GLA", "hgvs": [ "NM_000169.3:c.511G>A" ], "proteinEffect": { "hgvs": "NP_000160.1:p.Gly171Ser", "hgvsWellDefined": "NP_000160.1:p.Gly171Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS674733", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000218516.4:c.511G>A" }, "RefSeq": { "hgvs": "NM_000169.3:c.511G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000218516.4:p.Gly171Ser" }, "RefSeq": { "hgvs": "NP_000160.1:p.Gly171Ser" } } } }, { "coordinates": [ { "allele": "A", "end": 533, "referenceAllele": "G", "start": 532 } ], "gene": "http://reg.genome.network/gene/GN004296", "geneNCBI_id": 2717, "geneSymbol": "GLA", "hgvs": [ "NR_164783.1:n.533G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS705867" } ], "type": "nucleotide" }