{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA247499", "communityStandardTitle": [ "NM_000203.5(IDUA):c.1163C>A (p.Thr388Lys)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=195857[alleleid]", "alleleId": 195857, "preferredName": "NM_000203.5(IDUA):c.1163C>A (p.Thr388Lys)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/198696", "RCV": [ "RCV000597524", "RCV000723454", "RCV001249042" ], "variationId": 198696 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr4:g.996247C>A?assembly=hg19", "id": "chr4:g.996247C>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr4:g.1002459C>A?assembly=hg38", "id": "chr4:g.1002459C>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/794727896", "rs": 794727896 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/4-996247-C-A?dataset=gnomad_r2_1", "id": "4-996247-C-A", "variant": "4:996247 C / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/4-1002459-C-A?dataset=gnomad_r4", "id": "4-1002459-C-A", "variant": "4:1002459 C / A" } ] }, "genomicAlleles": [ { "chromosome": "4", "coordinates": [ { "allele": "A", "end": 1002459, "referenceAllele": "C", "start": 1002458 } ], "hgvs": [ "NC_000004.12:g.1002459C>A", "CM000666.2:g.1002459C>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000052" }, { "chromosome": "4", "coordinates": [ { "allele": "A", "end": 996247, "referenceAllele": "C", "start": 996246 } ], "hgvs": [ "NC_000004.11:g.996247C>A", "CM000666.1:g.996247C>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000028" }, { "chromosome": "4", "coordinates": [ { "allele": "A", "end": 986247, "referenceAllele": "C", "start": 986246 } ], "hgvs": [ "NC_000004.10:g.986247C>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000004" }, { "coordinates": [ { "allele": "A", "end": 20463, "referenceAllele": "C", "start": 20462 } ], "hgvs": [ "NG_008103.1:g.20463C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS000848" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1251, "referenceAllele": "C", "start": 1250 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "ENST00000247933.9:c.1163C>A" ], "proteinEffect": { "hgvs": "ENSP00000247933.4:p.Thr388Lys", "hgvsWellDefined": "ENSP00000247933.4:p.Thr388Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS741345" }, { "coordinates": [ { "allele": "A", "end": 1204, "referenceAllele": "C", "start": 1203 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "ENST00000514224.2:c.1163C>A" ], "proteinEffect": { "hgvs": "ENSP00000425081.2:p.Thr388Lys", "hgvsWellDefined": "ENSP00000425081.2:p.Thr388Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS758353", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000514224.2:c.1163C>A" }, "RefSeq": { "hgvs": "NM_000203.5:c.1163C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000425081.2:p.Thr388Lys" }, "RefSeq": { "hgvs": "NP_000194.2:p.Thr388Lys" } } } }, { "coordinates": [ { "allele": "A", "end": 1219, "referenceAllele": "C", "start": 1218 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "ENST00000652070.1:n.1219C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS772009" }, { "coordinates": [ { "allele": "A", "end": 1251, "referenceAllele": "C", "start": 1250 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "ENST00000247933.8:c.1163C>A" ], "proteinEffect": { "hgvs": "ENSP00000247933.4:p.Thr388Lys", "hgvsWellDefined": "ENSP00000247933.4:p.Thr388Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS249529" }, { "coordinates": [ { "allele": "A", "end": 1219, "referenceAllele": "C", "start": 1218 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "ENST00000514224.1:c.767C>A" ], "proteinEffect": { "hgvs": "ENSP00000425081.1:p.Thr256Lys", "hgvsWellDefined": "ENSP00000425081.1:p.Thr256Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS343765" }, { "coordinates": [ { "allele": "A", "end": 1270, "referenceAllele": "C", "start": 1269 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "ENST00000514698.5:n.1270C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS344122" }, { "@id": "http://reg.genome.network/allele/PA247500", "coordinates": [ { "allele": "A", "end": 1251, "referenceAllele": "C", "start": 1250 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "NM_000203.4:c.1163C>A" ], "proteinEffect": { "hgvs": "NP_000194.2:p.Thr388Lys", "hgvsWellDefined": "NP_000194.2:p.Thr388Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS006267" }, { "coordinates": [ { "allele": "A", "end": 1251, "referenceAllele": "C", "start": 1250 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "NR_110313.1:n.1251C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS054592" }, { "coordinates": [ { "allele": "A", "end": 1505, "referenceAllele": "C", "start": 1504 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "XM_006713882.2:c.767C>A" ], "proteinEffect": { "hgvs": "XP_006713945.1:p.Thr256Lys", "hgvsWellDefined": "XP_006713945.1:p.Thr256Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS070402" }, { "coordinates": [ { "allele": "A", "end": 1270, "referenceAllele": "C", "start": 1269 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "XM_011513459.1:c.1229C>A" ], "proteinEffect": { "hgvs": "XP_011511761.1:p.Thr410Lys", "hgvsWellDefined": "XP_011511761.1:p.Thr410Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS080706" }, { "coordinates": [ { "allele": "A", "end": 1063, "referenceAllele": "C", "start": 1062 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "XM_011513460.1:c.1022C>A" ], "proteinEffect": { "hgvs": "XP_011511762.1:p.Thr341Lys", "hgvsWellDefined": "XP_011511762.1:p.Thr341Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS080707" }, { "coordinates": [ { "allele": "A", "end": 1223, "referenceAllele": "C", "start": 1222 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "XM_011513461.1:c.956C>A" ], "proteinEffect": { "hgvs": "XP_011511763.1:p.Thr319Lys", "hgvsWellDefined": "XP_011511763.1:p.Thr319Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS080708" }, { "coordinates": [ { "allele": "A", "end": 1772, "referenceAllele": "C", "start": 1771 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "XM_011513462.1:c.875C>A" ], "proteinEffect": { "hgvs": "XP_011511764.1:p.Thr292Lys", "hgvsWellDefined": "XP_011511764.1:p.Thr292Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS080709" }, { "coordinates": [ { "allele": "A", "end": 1070, "referenceAllele": "C", "start": 1069 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "XM_011513463.1:c.875C>A" ], "proteinEffect": { "hgvs": "XP_011511765.1:p.Thr292Lys", "hgvsWellDefined": "XP_011511765.1:p.Thr292Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS080710" }, { "coordinates": [ { "allele": "A", "end": 1232, "referenceAllele": "C", "start": 1231 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "XR_924947.1:n.1232C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS121993" }, { "@id": "http://reg.genome.network/allele/PA247500", "coordinates": [ { "allele": "A", "end": 1204, "referenceAllele": "C", "start": 1203 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "NM_000203.5:c.1163C>A" ], "proteinEffect": { "hgvs": "NP_000194.2:p.Thr388Lys", "hgvsWellDefined": "NP_000194.2:p.Thr388Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS510765", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000514224.2:c.1163C>A" }, "RefSeq": { "hgvs": "NM_000203.5:c.1163C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000425081.2:p.Thr388Lys" }, "RefSeq": { "hgvs": "NP_000194.2:p.Thr388Lys" } } } }, { "@id": "http://reg.genome.network/allele/PA2828097356", "coordinates": [ { "allele": "A", "end": 1219, "referenceAllele": "C", "start": 1218 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "NM_001363576.1:c.767C>A" ], "proteinEffect": { "hgvs": "NP_001350505.1:p.Thr256Lys", "hgvsWellDefined": "NP_001350505.1:p.Thr256Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS523396" }, { "coordinates": [ { "allele": "A", "end": 1396, "referenceAllele": "C", "start": 1395 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "XM_011513461.2:c.956C>A" ], "proteinEffect": { "hgvs": "XP_011511763.1:p.Thr319Lys", "hgvsWellDefined": "XP_011511763.1:p.Thr319Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS542922" }, { "coordinates": [ { "allele": "A", "end": 1705, "referenceAllele": "C", "start": 1704 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "XM_017008163.1:c.203C>A" ], "proteinEffect": { "hgvs": "XP_016863652.1:p.Thr68Lys", "hgvsWellDefined": "XP_016863652.1:p.Thr68Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS562720" } ], "type": "nucleotide" }