{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA355962523", "communityStandardTitle": [ "NM_000203.5(IDUA):c.901G>C (p.Asp301His)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2960736[alleleid]", "alleleId": 2960736, "preferredName": "NM_000203.5(IDUA):c.901G>C (p.Asp301His)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2792270", "RCV": [ "RCV003755220" ], "variationId": 2792270 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr4:g.995878G>C?assembly=hg19", "id": "chr4:g.995878G>C" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr4:g.1002090G>C?assembly=hg38", "id": "chr4:g.1002090G>C" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1715120665", "rs": 1715120665 } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/4-1002090-G-C?dataset=gnomad_r3", "id": "4-1002090-G-C", "variant": "4:1002090 G / C" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/4-1002090-G-C?dataset=gnomad_r4", "id": "4-1002090-G-C", "variant": "4:1002090 G / C" } ] }, "genomicAlleles": [ { "chromosome": "4", "coordinates": [ { "allele": "C", "end": 1002090, "referenceAllele": "G", "start": 1002089 } ], "hgvs": [ "NC_000004.12:g.1002090G>C", "CM000666.2:g.1002090G>C" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000052" }, { "chromosome": "4", "coordinates": [ { "allele": "C", "end": 995878, "referenceAllele": "G", "start": 995877 } ], "hgvs": [ "NC_000004.11:g.995878G>C", "CM000666.1:g.995878G>C" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000028" }, { "chromosome": "4", "coordinates": [ { "allele": "C", "end": 985878, "referenceAllele": "G", "start": 985877 } ], "hgvs": [ "NC_000004.10:g.985878G>C" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000004" }, { "coordinates": [ { "allele": "C", "end": 20094, "referenceAllele": "G", "start": 20093 } ], "hgvs": [ "NG_008103.1:g.20094G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS000848" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "C", "end": 989, "referenceAllele": "G", "start": 988 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "ENST00000247933.9:c.901G>C" ], "proteinEffect": { "hgvs": "ENSP00000247933.4:p.Asp301His", "hgvsWellDefined": "ENSP00000247933.4:p.Asp301His" }, "referenceSequence": "http://reg.genome.network/refseq/RS741345" }, { "coordinates": [ { "allele": "C", "end": 942, "referenceAllele": "G", "start": 941 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "ENST00000514224.2:c.901G>C" ], "proteinEffect": { "hgvs": "ENSP00000425081.2:p.Asp301His", "hgvsWellDefined": "ENSP00000425081.2:p.Asp301His" }, "referenceSequence": "http://reg.genome.network/refseq/RS758353", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000514224.2:c.901G>C" }, "RefSeq": { "hgvs": "NM_000203.5:c.901G>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000425081.2:p.Asp301His" }, "RefSeq": { "hgvs": "NP_000194.2:p.Asp301His" } } } }, { "coordinates": [ { "allele": "C", "end": 957, "referenceAllele": "G", "start": 956 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "ENST00000652070.1:n.957G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS772009" }, { "coordinates": [ { "allele": "C", "end": 989, "referenceAllele": "G", "start": 988 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "ENST00000247933.8:c.901G>C" ], "proteinEffect": { "hgvs": "ENSP00000247933.4:p.Asp301His", "hgvsWellDefined": "ENSP00000247933.4:p.Asp301His" }, "referenceSequence": "http://reg.genome.network/refseq/RS249529" }, { "coordinates": [ { "allele": "C", "end": 957, "referenceAllele": "G", "start": 956 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "ENST00000514224.1:c.505G>C" ], "proteinEffect": { "hgvs": "ENSP00000425081.1:p.Asp169His", "hgvsWellDefined": "ENSP00000425081.1:p.Asp169His" }, "referenceSequence": "http://reg.genome.network/refseq/RS343765" }, { "coordinates": [ { "allele": "C", "end": 901, "referenceAllele": "G", "start": 900 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "ENST00000514698.5:n.901G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS344122" }, { "@id": "http://reg.genome.network/allele/PA2741812108", "coordinates": [ { "allele": "C", "end": 989, "referenceAllele": "G", "start": 988 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "NM_000203.4:c.901G>C" ], "proteinEffect": { "hgvs": "NP_000194.2:p.Asp301His", "hgvsWellDefined": "NP_000194.2:p.Asp301His" }, "referenceSequence": "http://reg.genome.network/refseq/RS006267" }, { "coordinates": [ { "allele": "C", "end": 989, "referenceAllele": "G", "start": 988 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "NR_110313.1:n.989G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS054592" }, { "coordinates": [ { "allele": "C", "end": 1243, "referenceAllele": "G", "start": 1242 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "XM_006713882.2:c.505G>C" ], "proteinEffect": { "hgvs": "XP_006713945.1:p.Asp169His", "hgvsWellDefined": "XP_006713945.1:p.Asp169His" }, "referenceSequence": "http://reg.genome.network/refseq/RS070402" }, { "coordinates": [ { "allele": "C", "end": 901, "referenceAllele": "G", "start": 900 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "XM_011513459.1:c.860G>C" ], "proteinEffect": { "hgvs": "XP_011511761.1:p.Gly287Ala", "hgvsWellDefined": "XP_011511761.1:p.Gly287Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS080706" }, { "coordinates": [ { "allele": "C", "end": 801, "referenceAllele": "G", "start": 800 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "XM_011513460.1:c.760G>C" ], "proteinEffect": { "hgvs": "XP_011511762.1:p.Asp254His", "hgvsWellDefined": "XP_011511762.1:p.Asp254His" }, "referenceSequence": "http://reg.genome.network/refseq/RS080707" }, { "coordinates": [ { "allele": "C", "end": 961, "referenceAllele": "G", "start": 960 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "XM_011513461.1:c.694G>C" ], "proteinEffect": { "hgvs": "XP_011511763.1:p.Asp232His", "hgvsWellDefined": "XP_011511763.1:p.Asp232His" }, "referenceSequence": "http://reg.genome.network/refseq/RS080708" }, { "coordinates": [ { "allele": "C", "end": 1510, "referenceAllele": "G", "start": 1509 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "XM_011513462.1:c.613G>C" ], "proteinEffect": { "hgvs": "XP_011511764.1:p.Asp205His", "hgvsWellDefined": "XP_011511764.1:p.Asp205His" }, "referenceSequence": "http://reg.genome.network/refseq/RS080709" }, { "coordinates": [ { "allele": "C", "end": 808, "referenceAllele": "G", "start": 807 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "XM_011513463.1:c.613G>C" ], "proteinEffect": { "hgvs": "XP_011511765.1:p.Asp205His", "hgvsWellDefined": "XP_011511765.1:p.Asp205His" }, "referenceSequence": "http://reg.genome.network/refseq/RS080710" }, { "coordinates": [ { "allele": "C", "end": 970, "referenceAllele": "G", "start": 969 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "XR_924947.1:n.970G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS121993" }, { "@id": "http://reg.genome.network/allele/PA2741812108", "coordinates": [ { "allele": "C", "end": 942, "referenceAllele": "G", "start": 941 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "NM_000203.5:c.901G>C" ], "proteinEffect": { "hgvs": "NP_000194.2:p.Asp301His", "hgvsWellDefined": "NP_000194.2:p.Asp301His" }, "referenceSequence": "http://reg.genome.network/refseq/RS510765", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000514224.2:c.901G>C" }, "RefSeq": { "hgvs": "NM_000203.5:c.901G>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000425081.2:p.Asp301His" }, "RefSeq": { "hgvs": "NP_000194.2:p.Asp301His" } } } }, { "@id": "http://reg.genome.network/allele/PA2828097198", "coordinates": [ { "allele": "C", "end": 957, "referenceAllele": "G", "start": 956 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "NM_001363576.1:c.505G>C" ], "proteinEffect": { "hgvs": "NP_001350505.1:p.Asp169His", "hgvsWellDefined": "NP_001350505.1:p.Asp169His" }, "referenceSequence": "http://reg.genome.network/refseq/RS523396" }, { "coordinates": [ { "allele": "C", "end": 1134, "referenceAllele": "G", "start": 1133 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "XM_011513461.2:c.694G>C" ], "proteinEffect": { "hgvs": "XP_011511763.1:p.Asp232His", "hgvsWellDefined": "XP_011511763.1:p.Asp232His" }, "referenceSequence": "http://reg.genome.network/refseq/RS542922" }, { "coordinates": [ { "allele": "C", "end": 1443, "referenceAllele": "G", "start": 1442 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "XM_017008163.1:c.-60G>C" ], "proteinEffect": { "hgvs": "XP_016863652.1:n.-60G>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS562720" } ], "type": "nucleotide" }