{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA145396", "communityStandardTitle": [ "NM_016734.3(PAX5):c.547G>A (p.Gly183Ser)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5419104", "active": true, "id": "COSM5419104" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=94451[alleleid]", "alleleId": 94451, "preferredName": "NM_016734.3(PAX5):c.547G>A (p.Gly183Ser)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/88892", "RCV": [ "RCV000074461" ], "variationId": 88892 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.37002702C>T?assembly=hg19", "id": "chr9:g.37002702C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.37002705C>T?assembly=hg38", "id": "chr9:g.37002705C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/398123063", "rs": 398123063 } ] }, "genomicAlleles": [ { "chromosome": "9", "coordinates": [ { "allele": "T", "end": 37002705, "referenceAllele": "C", "start": 37002704 } ], "hgvs": [ "NC_000009.12:g.37002705C>T", "CM000671.2:g.37002705C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000057" }, { "chromosome": "9", "coordinates": [ { "allele": "T", "end": 37002702, "referenceAllele": "C", "start": 37002701 } ], "hgvs": [ "NC_000009.11:g.37002702C>T", "CM000671.1:g.37002702C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000033" }, { "chromosome": "9", "coordinates": [ { "allele": "T", "end": 36992702, "referenceAllele": "C", "start": 36992701 } ], "hgvs": [ "NC_000009.10:g.36992702C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000009" }, { "coordinates": [ { "allele": "A", "end": 36775, "referenceAllele": "G", "start": 36774 } ], "hgvs": [ "NG_033894.1:g.36775G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS005580" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 784, "referenceAllele": "G", "start": 783 } ], "gene": "http://reg.genome.network/gene/GN008619", "geneNCBI_id": 5079, "geneSymbol": "PAX5", "hgvs": [ "ENST00000358127.9:c.547G>A" ], "proteinEffect": { "hgvs": "ENSP00000350844.4:p.Gly183Ser", "hgvsWellDefined": "ENSP00000350844.4:p.Gly183Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS749030", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000358127.9:c.547G>A" }, "RefSeq": { "hgvs": "NM_016734.3:c.547G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000350844.4:p.Gly183Ser" }, "RefSeq": { "hgvs": "NP_057953.1:p.Gly183Ser" } } } }, { "coordinates": [ { "allele": "A", "end": 784, "referenceAllele": "G", "start": 783 } ], "gene": "http://reg.genome.network/gene/GN008619", "geneNCBI_id": 5079, "geneSymbol": "PAX5", "hgvs": [ "ENST00000377852.7:c.547G>A" ], "proteinEffect": { "hgvs": "ENSP00000367083.2:p.Gly183Ser", "hgvsWellDefined": "ENSP00000367083.2:p.Gly183Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS751986" }, { "coordinates": [ { "allele": "A", "end": 701, "referenceAllele": "G", "start": 700 } ], "gene": "http://reg.genome.network/gene/GN008619", "geneNCBI_id": 5079, "geneSymbol": "PAX5", "hgvs": [ "ENST00000520154.6:c.547G>A" ], "proteinEffect": { "hgvs": "ENSP00000429291.1:p.Gly183Ser", "hgvsWellDefined": "ENSP00000429291.1:p.Gly183Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS758678" }, { "coordinates": [ { "allele": "A", "end": 784, "referenceAllele": "G", "start": 783 } ], "gene": "http://reg.genome.network/gene/GN008619", "geneNCBI_id": 5079, "geneSymbol": "PAX5", "hgvs": [ "ENST00000523241.6:c.547G>A" ], "proteinEffect": { "hgvs": "ENSP00000429637.1:p.Gly183Ser", "hgvsWellDefined": "ENSP00000429637.1:p.Gly183Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS758804" }, { "coordinates": [ { "allele": "A", "end": 281, "referenceAllele": "G", "start": 280 } ], "gene": "http://reg.genome.network/gene/GN008619", "geneNCBI_id": 5079, "geneSymbol": "PAX5", "hgvs": [ "ENST00000651199.1:n.281G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS771524" }, { "coordinates": [ { "allele": "A", "end": 606, "referenceAllele": "G", "start": 605 } ], "gene": "http://reg.genome.network/gene/GN008619", "geneNCBI_id": 5079, "geneSymbol": "PAX5", "hgvs": [ "ENST00000651550.1:c.223G>A" ], "proteinEffect": { "hgvs": "ENSP00000498443.1:p.Gly75Ser", "hgvsWellDefined": "ENSP00000498443.1:p.Gly75Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS771732" }, { "coordinates": [ { "allele": "A", "end": 701, "referenceAllele": "G", "start": 700 } ], "gene": "http://reg.genome.network/gene/GN008619", "geneNCBI_id": 5079, "geneSymbol": "PAX5", "hgvs": [ "ENST00000358127.8:c.547G>A" ], "proteinEffect": { "hgvs": "ENSP00000350844.4:p.Gly183Ser", "hgvsWellDefined": "ENSP00000350844.4:p.Gly183Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS264340" }, { "coordinates": [ { "allele": "A", "end": 557, "referenceAllele": "G", "start": 556 } ], "gene": "http://reg.genome.network/gene/GN008619", "geneNCBI_id": 5079, "geneSymbol": "PAX5", "hgvs": [ "ENST00000377840.6:c.547G>A" ], "proteinEffect": { "hgvs": "ENSP00000367071.2:p.Gly183Ser", "hgvsWellDefined": "ENSP00000367071.2:p.Gly183Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS271761" }, { "coordinates": [ { "allele": "A", "end": 547, "referenceAllele": "G", "start": 546 } ], "gene": "http://reg.genome.network/gene/GN008619", "geneNCBI_id": 5079, "geneSymbol": "PAX5", "hgvs": [ "ENST00000377847.6:c.547G>A" ], "proteinEffect": { "hgvs": "ENSP00000367078.2:p.Gly183Ser", "hgvsWellDefined": "ENSP00000367078.2:p.Gly183Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS271766" }, { "coordinates": [ { "allele": "A", "end": 557, "referenceAllele": "G", "start": 556 } ], "gene": "http://reg.genome.network/gene/GN008619", "geneNCBI_id": 5079, "geneSymbol": "PAX5", "hgvs": [ "ENST00000377852.6:c.547G>A" ], "proteinEffect": { "hgvs": "ENSP00000367083.2:p.Gly183Ser", "hgvsWellDefined": "ENSP00000367083.2:p.Gly183Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS271769" }, { "coordinates": [ { "allele": "A", "end": 557, "referenceAllele": "G", "start": 556 } ], "gene": "http://reg.genome.network/gene/GN008619", "geneNCBI_id": 5079, "geneSymbol": "PAX5", "hgvs": [ "ENST00000377853.6:c.547G>A" ], "proteinEffect": { "hgvs": "ENSP00000367084.2:p.Gly183Ser", "hgvsWellDefined": "ENSP00000367084.2:p.Gly183Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS271770" }, { "coordinates": [ { "allele": "A", "end": 475, "endIntronDirection": "+", "endIntronOffset": 3768, "referenceAllele": "G", "start": 475, "startIntronDirection": "+", "startIntronOffset": 3767 } ], "gene": "http://reg.genome.network/gene/GN008619", "geneNCBI_id": 5079, "geneSymbol": "PAX5", "hgvs": [ "ENST00000414447.5:c.475+3768G>A" ], "proteinEffect": { "hgvs": "ENSP00000412188.1:n.475+3768G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS283536" }, { "coordinates": [ { "allele": "A", "end": 349, "referenceAllele": "G", "start": 348 } ], "gene": "http://reg.genome.network/gene/GN008619", "geneNCBI_id": 5079, "geneSymbol": "PAX5", "hgvs": [ "ENST00000446742.5:c.349G>A" ], "proteinEffect": { "hgvs": "ENSP00000404687.1:p.Gly117Ser", "hgvsWellDefined": "ENSP00000404687.1:p.Gly117Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS298873" }, { "coordinates": [ { "allele": "A", "end": 557, "referenceAllele": "G", "start": 556 } ], "gene": "http://reg.genome.network/gene/GN008619", "geneNCBI_id": 5079, "geneSymbol": "PAX5", "hgvs": [ "ENST00000520154.5:c.547G>A" ], "proteinEffect": { "hgvs": "ENSP00000429291.1:p.Gly183Ser", "hgvsWellDefined": "ENSP00000429291.1:p.Gly183Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS347253" }, { "coordinates": [ { "allele": "A", "end": 475, "endIntronDirection": "+", "endIntronOffset": 3768, "referenceAllele": "G", "start": 475, "startIntronDirection": "+", "startIntronOffset": 3767 } ], "gene": "http://reg.genome.network/gene/GN008619", "geneNCBI_id": 5079, "geneSymbol": "PAX5", "hgvs": [ "ENST00000520281.5:c.475+3768G>A" ], "proteinEffect": { "hgvs": "ENSP00000430773.1:n.475+3768G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS347354" }, { "coordinates": [ { "allele": "A", "end": 381, "referenceAllele": "G", "start": 380 } ], "gene": "http://reg.genome.network/gene/GN008619", "geneNCBI_id": 5079, "geneSymbol": "PAX5", "hgvs": [ "ENST00000522003.5:c.223G>A" ], "proteinEffect": { "hgvs": "ENSP00000429359.1:p.Gly75Ser", "hgvsWellDefined": "ENSP00000429359.1:p.Gly75Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS348702" }, { "coordinates": [ { "allele": "A", "end": 48, "referenceAllele": "G", "start": 47 } ], "gene": "http://reg.genome.network/gene/GN008619", "geneNCBI_id": 5079, "geneSymbol": "PAX5", "hgvs": [ "ENST00000522932.1:c.48G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS349433" }, { "coordinates": [ { "allele": "A", "end": 381, "referenceAllele": "G", "start": 380 } ], "gene": "http://reg.genome.network/gene/GN008619", "geneNCBI_id": 5079, "geneSymbol": "PAX5", "hgvs": [ "ENST00000523145.5:c.223G>A" ], "proteinEffect": { "hgvs": "ENSP00000429197.1:p.Gly75Ser", "hgvsWellDefined": "ENSP00000429197.1:p.Gly75Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS349593" }, { "coordinates": [ { "allele": "A", "end": 557, "referenceAllele": "G", "start": 556 } ], "gene": "http://reg.genome.network/gene/GN008619", "geneNCBI_id": 5079, "geneSymbol": "PAX5", "hgvs": [ "ENST00000523241.5:c.547G>A" ], "proteinEffect": { "hgvs": "ENSP00000429637.1:p.Gly183Ser", "hgvsWellDefined": "ENSP00000429637.1:p.Gly183Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS349669" }, { "coordinates": [ { "allele": "A", "end": 547, "referenceAllele": "G", "start": 546 } ], "gene": "http://reg.genome.network/gene/GN008619", "geneNCBI_id": 5079, "geneSymbol": "PAX5", "hgvs": [ "ENST00000523493.5:c.547G>A" ], "proteinEffect": { "hgvs": "ENSP00000431038.1:p.Gly183Ser", "hgvsWellDefined": "ENSP00000431038.1:p.Gly183Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS349867" }, { "@id": "http://reg.genome.network/allele/PA145397", "coordinates": [ { "allele": "A", "end": 995, "referenceAllele": "G", "start": 994 } ], "gene": "http://reg.genome.network/gene/GN008619", "geneNCBI_id": 5079, "geneSymbol": "PAX5", "hgvs": [ "NM_001280547.1:c.547G>A" ], "proteinEffect": { "hgvs": "NP_001267476.1:p.Gly183Ser", "hgvsWellDefined": "NP_001267476.1:p.Gly183Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS021569" }, { "@id": "http://reg.genome.network/allele/PA2826620710", "coordinates": [ { "allele": "A", "end": 995, "referenceAllele": "G", "start": 994 } ], "gene": "http://reg.genome.network/gene/GN008619", "geneNCBI_id": 5079, "geneSymbol": "PAX5", "hgvs": [ "NM_001280548.1:c.547G>A" ], "proteinEffect": { "hgvs": "NP_001267477.1:p.Gly183Ser", "hgvsWellDefined": "NP_001267477.1:p.Gly183Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS021570" }, { "@id": "http://reg.genome.network/allele/PA2826620800", "coordinates": [ { "allele": "A", "end": 995, "referenceAllele": "G", "start": 994 } ], "gene": "http://reg.genome.network/gene/GN008619", "geneNCBI_id": 5079, "geneSymbol": "PAX5", "hgvs": [ "NM_001280549.1:c.547G>A" ], "proteinEffect": { "hgvs": "NP_001267478.1:p.Gly183Ser", "hgvsWellDefined": "NP_001267478.1:p.Gly183Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS021571" }, { "@id": "http://reg.genome.network/allele/PA2826620866", "coordinates": [ { "allele": "A", "end": 995, "referenceAllele": "G", "start": 994 } ], "gene": "http://reg.genome.network/gene/GN008619", "geneNCBI_id": 5079, "geneSymbol": "PAX5", "hgvs": [ "NM_001280550.1:c.547G>A" ], "proteinEffect": { "hgvs": "NP_001267479.1:p.Gly183Ser", "hgvsWellDefined": "NP_001267479.1:p.Gly183Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS021572" }, { "@id": "http://reg.genome.network/allele/PA2826620916", "coordinates": [ { "allele": "A", "end": 829, "referenceAllele": "G", "start": 828 } ], "gene": "http://reg.genome.network/gene/GN008619", "geneNCBI_id": 5079, "geneSymbol": "PAX5", "hgvs": [ "NM_001280551.1:c.223G>A" ], "proteinEffect": { "hgvs": "NP_001267480.1:p.Gly75Ser", "hgvsWellDefined": "NP_001267480.1:p.Gly75Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS021573" }, { "@id": "http://reg.genome.network/allele/PA2826620992", "coordinates": [ { "allele": "A", "end": 995, "referenceAllele": "G", "start": 994 } ], "gene": "http://reg.genome.network/gene/GN008619", "geneNCBI_id": 5079, "geneSymbol": "PAX5", "hgvs": [ "NM_001280552.1:c.547G>A" ], "proteinEffect": { "hgvs": "NP_001267481.1:p.Gly183Ser", "hgvsWellDefined": "NP_001267481.1:p.Gly183Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS021574" }, { "coordinates": [ { "allele": "A", "end": 923, "endIntronDirection": "+", "endIntronOffset": 3768, "referenceAllele": "G", "start": 923, "startIntronDirection": "+", "startIntronOffset": 3767 } ], "gene": "http://reg.genome.network/gene/GN008619", "geneNCBI_id": 5079, "geneSymbol": "PAX5", "hgvs": [ "NM_001280553.1:c.475+3768G>A" ], "proteinEffect": { "hgvs": "NP_001267482.1:n.475+3768G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS021575" }, { "coordinates": [ { "allele": "A", "end": 923, "endIntronDirection": "+", "endIntronOffset": 3768, "referenceAllele": "G", "start": 923, "startIntronDirection": "+", "startIntronOffset": 3767 } ], "gene": "http://reg.genome.network/gene/GN008619", "geneNCBI_id": 5079, "geneSymbol": "PAX5", "hgvs": [ "NM_001280554.1:c.475+3768G>A" ], "proteinEffect": { "hgvs": "NP_001267483.1:n.475+3768G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS021576" }, { "@id": "http://reg.genome.network/allele/PA2826621227", "coordinates": [ { "allele": "A", "end": 797, "referenceAllele": "G", "start": 796 } ], "gene": "http://reg.genome.network/gene/GN008619", "geneNCBI_id": 5079, "geneSymbol": "PAX5", "hgvs": [ "NM_001280555.1:c.349G>A" ], "proteinEffect": { "hgvs": "NP_001267484.1:p.Gly117Ser", "hgvsWellDefined": "NP_001267484.1:p.Gly117Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS021577" }, { "@id": "http://reg.genome.network/allele/PA916010703", "coordinates": [ { "allele": "A", "end": 829, "referenceAllele": "G", "start": 828 } ], "gene": "http://reg.genome.network/gene/GN008619", "geneNCBI_id": 5079, "geneSymbol": "PAX5", "hgvs": [ "NM_001280556.1:c.223G>A" ], "proteinEffect": { "hgvs": "NP_001267485.1:p.Gly75Ser", "hgvsWellDefined": "NP_001267485.1:p.Gly75Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS021578" }, { "@id": "http://reg.genome.network/allele/PA100397", "coordinates": [ { "allele": "A", "end": 995, "referenceAllele": "G", "start": 994 } ], "gene": "http://reg.genome.network/gene/GN008619", "geneNCBI_id": 5079, "geneSymbol": "PAX5", "hgvs": [ "NM_016734.2:c.547G>A" ], "proteinEffect": { "hgvs": "NP_057953.1:p.Gly183Ser", "hgvsWellDefined": "NP_057953.1:p.Gly183Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS034870" }, { "coordinates": [ { "allele": "A", "end": 995, "referenceAllele": "G", "start": 994 } ], "gene": "http://reg.genome.network/gene/GN008619", "geneNCBI_id": 5079, "geneSymbol": "PAX5", "hgvs": [ "NR_103999.1:n.995G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS053125" }, { "coordinates": [ { "allele": "A", "end": 995, "referenceAllele": "G", "start": 994 } ], "gene": "http://reg.genome.network/gene/GN008619", "geneNCBI_id": 5079, "geneSymbol": "PAX5", "hgvs": [ "NR_104000.1:n.995G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS053126" }, { "coordinates": [ { "allele": "A", "end": 1603, "referenceAllele": "G", "start": 1602 } ], "gene": "http://reg.genome.network/gene/GN008619", "geneNCBI_id": 5079, "geneSymbol": "PAX5", "hgvs": [ "XM_005251481.3:c.544G>A" ], "proteinEffect": { "hgvs": "XP_005251538.1:p.Gly182Ser", "hgvsWellDefined": "XP_005251538.1:p.Gly182Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS059565" }, { "coordinates": [ { "allele": "A", "end": 1835, "referenceAllele": "G", "start": 1834 } ], "gene": "http://reg.genome.network/gene/GN008619", "geneNCBI_id": 5079, "geneSymbol": "PAX5", "hgvs": [ "XM_011517896.1:c.547G>A" ], "proteinEffect": { "hgvs": "XP_011516198.1:p.Gly183Ser", "hgvsWellDefined": "XP_011516198.1:p.Gly183Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS085078" }, { "coordinates": [ { "allele": "A", "end": 1604, "referenceAllele": "G", "start": 1603 } ], "gene": "http://reg.genome.network/gene/GN008619", "geneNCBI_id": 5079, "geneSymbol": "PAX5", "hgvs": [ "XM_011517897.1:c.544G>A" ], "proteinEffect": { "hgvs": "XP_011516199.1:p.Gly182Ser", "hgvsWellDefined": "XP_011516199.1:p.Gly182Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS085079" }, { "coordinates": [ { "allele": "T", "end": 9, "referenceAllele": "C", "start": 8 } ], "hgvs": [ "XR_001746663.1:n.9C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS594943" }, { "coordinates": [ { "allele": "T", "end": 9, "referenceAllele": "C", "start": 8 } ], "hgvs": [ "XR_001746664.1:n.9C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS594944" }, { "@id": "http://reg.genome.network/allele/PA100397", "coordinates": [ { "allele": "A", "end": 784, "referenceAllele": "G", "start": 783 } ], "gene": "http://reg.genome.network/gene/GN008619", "geneNCBI_id": 5079, "geneSymbol": "PAX5", "hgvs": [ "NM_016734.3:c.547G>A" ], "proteinEffect": { "hgvs": "NP_057953.1:p.Gly183Ser", "hgvsWellDefined": "NP_057953.1:p.Gly183Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS669220", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000358127.9:c.547G>A" }, "RefSeq": { "hgvs": "NM_016734.3:c.547G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000350844.4:p.Gly183Ser" }, "RefSeq": { "hgvs": "NP_057953.1:p.Gly183Ser" } } } }, { "@id": "http://reg.genome.network/allele/PA145397", "coordinates": [ { "allele": "A", "end": 784, "referenceAllele": "G", "start": 783 } ], "gene": "http://reg.genome.network/gene/GN008619", "geneNCBI_id": 5079, "geneSymbol": "PAX5", "hgvs": [ "NM_001280547.2:c.547G>A" ], "proteinEffect": { "hgvs": "NP_001267476.1:p.Gly183Ser", "hgvsWellDefined": "NP_001267476.1:p.Gly183Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS681605" }, { "@id": "http://reg.genome.network/allele/PA2826620710", "coordinates": [ { "allele": "A", "end": 784, "referenceAllele": "G", "start": 783 } ], "gene": "http://reg.genome.network/gene/GN008619", "geneNCBI_id": 5079, "geneSymbol": "PAX5", "hgvs": [ "NM_001280548.2:c.547G>A" ], "proteinEffect": { "hgvs": "NP_001267477.1:p.Gly183Ser", "hgvsWellDefined": "NP_001267477.1:p.Gly183Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS681606" }, { "@id": "http://reg.genome.network/allele/PA2826620800", "coordinates": [ { "allele": "A", "end": 784, "referenceAllele": "G", "start": 783 } ], "gene": "http://reg.genome.network/gene/GN008619", "geneNCBI_id": 5079, "geneSymbol": "PAX5", "hgvs": [ "NM_001280549.2:c.547G>A" ], "proteinEffect": { "hgvs": "NP_001267478.1:p.Gly183Ser", "hgvsWellDefined": "NP_001267478.1:p.Gly183Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS681607" }, { "@id": "http://reg.genome.network/allele/PA2826620866", "coordinates": [ { "allele": "A", "end": 784, "referenceAllele": "G", "start": 783 } ], "gene": "http://reg.genome.network/gene/GN008619", "geneNCBI_id": 5079, "geneSymbol": "PAX5", "hgvs": [ "NM_001280550.2:c.547G>A" ], "proteinEffect": { "hgvs": "NP_001267479.1:p.Gly183Ser", "hgvsWellDefined": "NP_001267479.1:p.Gly183Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS681608" }, { "@id": "http://reg.genome.network/allele/PA2826620916", "coordinates": [ { "allele": "A", "end": 618, "referenceAllele": "G", "start": 617 } ], "gene": "http://reg.genome.network/gene/GN008619", "geneNCBI_id": 5079, "geneSymbol": "PAX5", "hgvs": [ "NM_001280551.2:c.223G>A" ], "proteinEffect": { "hgvs": "NP_001267480.1:p.Gly75Ser", "hgvsWellDefined": "NP_001267480.1:p.Gly75Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS681609" }, { "@id": "http://reg.genome.network/allele/PA2826620992", "coordinates": [ { "allele": "A", "end": 784, "referenceAllele": "G", "start": 783 } ], "gene": "http://reg.genome.network/gene/GN008619", "geneNCBI_id": 5079, "geneSymbol": "PAX5", "hgvs": [ "NM_001280552.2:c.547G>A" ], "proteinEffect": { "hgvs": "NP_001267481.1:p.Gly183Ser", "hgvsWellDefined": "NP_001267481.1:p.Gly183Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS681610" }, { "coordinates": [ { "allele": "A", "end": 712, "endIntronDirection": "+", "endIntronOffset": 3768, "referenceAllele": "G", "start": 712, "startIntronDirection": "+", "startIntronOffset": 3767 } ], "gene": "http://reg.genome.network/gene/GN008619", "geneNCBI_id": 5079, "geneSymbol": "PAX5", "hgvs": [ "NM_001280553.2:c.475+3768G>A" ], "proteinEffect": { "hgvs": "NP_001267482.1:n.475+3768G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS681611" }, { "coordinates": [ { "allele": "A", "end": 712, "endIntronDirection": "+", "endIntronOffset": 3768, "referenceAllele": "G", "start": 712, "startIntronDirection": "+", "startIntronOffset": 3767 } ], "gene": "http://reg.genome.network/gene/GN008619", "geneNCBI_id": 5079, "geneSymbol": "PAX5", "hgvs": [ "NM_001280554.2:c.475+3768G>A" ], "proteinEffect": { "hgvs": "NP_001267483.1:n.475+3768G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS681612" }, { "@id": "http://reg.genome.network/allele/PA2826621227", "coordinates": [ { "allele": "A", "end": 586, "referenceAllele": "G", "start": 585 } ], "gene": "http://reg.genome.network/gene/GN008619", "geneNCBI_id": 5079, "geneSymbol": "PAX5", "hgvs": [ "NM_001280555.2:c.349G>A" ], "proteinEffect": { "hgvs": "NP_001267484.1:p.Gly117Ser", "hgvsWellDefined": "NP_001267484.1:p.Gly117Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS681613" }, { "@id": "http://reg.genome.network/allele/PA916010703", "coordinates": [ { "allele": "A", "end": 618, "referenceAllele": "G", "start": 617 } ], "gene": "http://reg.genome.network/gene/GN008619", "geneNCBI_id": 5079, "geneSymbol": "PAX5", "hgvs": [ "NM_001280556.2:c.223G>A" ], "proteinEffect": { "hgvs": "NP_001267485.1:p.Gly75Ser", "hgvsWellDefined": "NP_001267485.1:p.Gly75Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS681614" }, { "coordinates": [ { "allele": "A", "end": 784, "referenceAllele": "G", "start": 783 } ], "gene": "http://reg.genome.network/gene/GN008619", "geneNCBI_id": 5079, "geneSymbol": "PAX5", "hgvs": [ "NR_103999.2:n.784G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS702898" }, { "coordinates": [ { "allele": "A", "end": 784, "referenceAllele": "G", "start": 783 } ], "gene": "http://reg.genome.network/gene/GN008619", "geneNCBI_id": 5079, "geneSymbol": "PAX5", "hgvs": [ "NR_104000.2:n.784G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS702899" } ], "type": "nucleotide" }