{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA355963146", "communityStandardTitle": [ "NM_000203.5(IDUA):c.1045G>T (p.Asp349Tyr)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=625881[alleleid]", "alleleId": 625881, "preferredName": "NM_000203.5(IDUA):c.1045G>T (p.Asp349Tyr)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/638075", "RCV": [ "RCV000790541" ], "variationId": 638075 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr4:g.996129G>T?assembly=hg19", "id": "chr4:g.996129G>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr4:g.1002341G>T?assembly=hg38", "id": "chr4:g.1002341G>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/368454909", "rs": 368454909 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/4-1002341-G-T?dataset=gnomad_r4", "id": "4-1002341-G-T", "variant": "4:1002341 G / T" } ] }, "genomicAlleles": [ { "chromosome": "4", "coordinates": [ { "allele": "T", "end": 1002341, "referenceAllele": "G", "start": 1002340 } ], "hgvs": [ "NC_000004.12:g.1002341G>T", "CM000666.2:g.1002341G>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000052" }, { "chromosome": "4", "coordinates": [ { "allele": "T", "end": 996129, "referenceAllele": "G", "start": 996128 } ], "hgvs": [ "NC_000004.11:g.996129G>T", "CM000666.1:g.996129G>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000028" }, { "chromosome": "4", "coordinates": [ { "allele": "T", "end": 986129, "referenceAllele": "G", "start": 986128 } ], "hgvs": [ "NC_000004.10:g.986129G>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000004" }, { "coordinates": [ { "allele": "T", "end": 20345, "referenceAllele": "G", "start": 20344 } ], "hgvs": [ "NG_008103.1:g.20345G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS000848" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1133, "referenceAllele": "G", "start": 1132 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "ENST00000247933.9:c.1045G>T" ], "proteinEffect": { "hgvs": "ENSP00000247933.4:p.Asp349Tyr", "hgvsWellDefined": "ENSP00000247933.4:p.Asp349Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS741345" }, { "coordinates": [ { "allele": "T", "end": 1086, "referenceAllele": "G", "start": 1085 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "ENST00000514224.2:c.1045G>T" ], "proteinEffect": { "hgvs": "ENSP00000425081.2:p.Asp349Tyr", "hgvsWellDefined": "ENSP00000425081.2:p.Asp349Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS758353", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000514224.2:c.1045G>T" }, "RefSeq": { "hgvs": "NM_000203.5:c.1045G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000425081.2:p.Asp349Tyr" }, "RefSeq": { "hgvs": "NP_000194.2:p.Asp349Tyr" } } } }, { "coordinates": [ { "allele": "T", "end": 1101, "referenceAllele": "G", "start": 1100 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "ENST00000652070.1:n.1101G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS772009" }, { "coordinates": [ { "allele": "T", "end": 1133, "referenceAllele": "G", "start": 1132 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "ENST00000247933.8:c.1045G>T" ], "proteinEffect": { "hgvs": "ENSP00000247933.4:p.Asp349Tyr", "hgvsWellDefined": "ENSP00000247933.4:p.Asp349Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS249529" }, { "coordinates": [ { "allele": "T", "end": 1101, "referenceAllele": "G", "start": 1100 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "ENST00000514224.1:c.649G>T" ], "proteinEffect": { "hgvs": "ENSP00000425081.1:p.Asp217Tyr", "hgvsWellDefined": "ENSP00000425081.1:p.Asp217Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS343765" }, { "coordinates": [ { "allele": "T", "end": 1152, "referenceAllele": "G", "start": 1151 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "ENST00000514698.5:n.1152G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS344122" }, { "@id": "http://reg.genome.network/allele/PA107971", "coordinates": [ { "allele": "T", "end": 1133, "referenceAllele": "G", "start": 1132 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "NM_000203.4:c.1045G>T" ], "proteinEffect": { "hgvs": "NP_000194.2:p.Asp349Tyr", "hgvsWellDefined": "NP_000194.2:p.Asp349Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS006267" }, { "coordinates": [ { "allele": "T", "end": 1133, "referenceAllele": "G", "start": 1132 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "NR_110313.1:n.1133G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS054592" }, { "coordinates": [ { "allele": "T", "end": 1387, "referenceAllele": "G", "start": 1386 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "XM_006713882.2:c.649G>T" ], "proteinEffect": { "hgvs": "XP_006713945.1:p.Asp217Tyr", "hgvsWellDefined": "XP_006713945.1:p.Asp217Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS070402" }, { "coordinates": [ { "allele": "T", "end": 1152, "referenceAllele": "G", "start": 1151 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "XM_011513459.1:c.1111G>T" ], "proteinEffect": { "hgvs": "XP_011511761.1:p.Asp371Tyr", "hgvsWellDefined": "XP_011511761.1:p.Asp371Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS080706" }, { "coordinates": [ { "allele": "T", "end": 945, "referenceAllele": "G", "start": 944 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "XM_011513460.1:c.904G>T" ], "proteinEffect": { "hgvs": "XP_011511762.1:p.Asp302Tyr", "hgvsWellDefined": "XP_011511762.1:p.Asp302Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS080707" }, { "coordinates": [ { "allele": "T", "end": 1105, "referenceAllele": "G", "start": 1104 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "XM_011513461.1:c.838G>T" ], "proteinEffect": { "hgvs": "XP_011511763.1:p.Asp280Tyr", "hgvsWellDefined": "XP_011511763.1:p.Asp280Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS080708" }, { "coordinates": [ { "allele": "T", "end": 1654, "referenceAllele": "G", "start": 1653 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "XM_011513462.1:c.757G>T" ], "proteinEffect": { "hgvs": "XP_011511764.1:p.Asp253Tyr", "hgvsWellDefined": "XP_011511764.1:p.Asp253Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS080709" }, { "coordinates": [ { "allele": "T", "end": 952, "referenceAllele": "G", "start": 951 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "XM_011513463.1:c.757G>T" ], "proteinEffect": { "hgvs": "XP_011511765.1:p.Asp253Tyr", "hgvsWellDefined": "XP_011511765.1:p.Asp253Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS080710" }, { "coordinates": [ { "allele": "T", "end": 1114, "referenceAllele": "G", "start": 1113 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "XR_924947.1:n.1114G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS121993" }, { "@id": "http://reg.genome.network/allele/PA107971", "coordinates": [ { "allele": "T", "end": 1086, "referenceAllele": "G", "start": 1085 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "NM_000203.5:c.1045G>T" ], "proteinEffect": { "hgvs": "NP_000194.2:p.Asp349Tyr", "hgvsWellDefined": "NP_000194.2:p.Asp349Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS510765", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000514224.2:c.1045G>T" }, "RefSeq": { "hgvs": "NM_000203.5:c.1045G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000425081.2:p.Asp349Tyr" }, "RefSeq": { "hgvs": "NP_000194.2:p.Asp349Tyr" } } } }, { "@id": "http://reg.genome.network/allele/PA2828097280", "coordinates": [ { "allele": "T", "end": 1101, "referenceAllele": "G", "start": 1100 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "NM_001363576.1:c.649G>T" ], "proteinEffect": { "hgvs": "NP_001350505.1:p.Asp217Tyr", "hgvsWellDefined": "NP_001350505.1:p.Asp217Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS523396" }, { "coordinates": [ { "allele": "T", "end": 1278, "referenceAllele": "G", "start": 1277 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "XM_011513461.2:c.838G>T" ], "proteinEffect": { "hgvs": "XP_011511763.1:p.Asp280Tyr", "hgvsWellDefined": "XP_011511763.1:p.Asp280Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS542922" }, { "coordinates": [ { "allele": "T", "end": 1587, "referenceAllele": "G", "start": 1586 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "XM_017008163.1:c.85G>T" ], "proteinEffect": { "hgvs": "XP_016863652.1:p.Asp29Tyr", "hgvsWellDefined": "XP_016863652.1:p.Asp29Tyr" }, "referenceSequence": "http://reg.genome.network/refseq/RS562720" } ], "type": "nucleotide" }