{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA91168572", "communityStandardTitle": [ "NM_000203.5(IDUA):c.955G>A (p.Ala319Thr)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1891311[alleleid]", "alleleId": 1891311, "preferredName": "NM_000203.5(IDUA):c.955G>A (p.Ala319Thr)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2162894", "RCV": [ "RCV003070477", "RCV003134643" ], "variationId": 2162894 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr4:g.995932G>A?assembly=hg19", "id": "chr4:g.995932G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr4:g.1002144G>A?assembly=hg38", "id": "chr4:g.1002144G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/374699130", "rs": 374699130 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/4-995932-G-A?dataset=gnomad_r2_1", "id": "4-995932-G-A", "variant": "4:995932 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/4-1002144-G-A?dataset=gnomad_r4", "id": "4-1002144-G-A", "variant": "4:1002144 G / A" } ] }, "genomicAlleles": [ { "chromosome": "4", "coordinates": [ { "allele": "A", "end": 1002144, "referenceAllele": "G", "start": 1002143 } ], "hgvs": [ "NC_000004.12:g.1002144G>A", "CM000666.2:g.1002144G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000052" }, { "chromosome": "4", "coordinates": [ { "allele": "A", "end": 995932, "referenceAllele": "G", "start": 995931 } ], "hgvs": [ "NC_000004.11:g.995932G>A", "CM000666.1:g.995932G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000028" }, { "chromosome": "4", "coordinates": [ { "allele": "A", "end": 985932, "referenceAllele": "G", "start": 985931 } ], "hgvs": [ "NC_000004.10:g.985932G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000004" }, { "coordinates": [ { "allele": "A", "end": 20148, "referenceAllele": "G", "start": 20147 } ], "hgvs": [ "NG_008103.1:g.20148G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS000848" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1043, "referenceAllele": "G", "start": 1042 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "ENST00000247933.9:c.955G>A" ], "proteinEffect": { "hgvs": "ENSP00000247933.4:p.Ala319Thr", "hgvsWellDefined": "ENSP00000247933.4:p.Ala319Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS741345" }, { "coordinates": [ { "allele": "A", "end": 996, "referenceAllele": "G", "start": 995 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "ENST00000514224.2:c.955G>A" ], "proteinEffect": { "hgvs": "ENSP00000425081.2:p.Ala319Thr", "hgvsWellDefined": "ENSP00000425081.2:p.Ala319Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS758353", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000514224.2:c.955G>A" }, "RefSeq": { "hgvs": "NM_000203.5:c.955G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000425081.2:p.Ala319Thr" }, "RefSeq": { "hgvs": "NP_000194.2:p.Ala319Thr" } } } }, { "coordinates": [ { "allele": "A", "end": 1011, "referenceAllele": "G", "start": 1010 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "ENST00000652070.1:n.1011G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS772009" }, { "coordinates": [ { "allele": "A", "end": 1043, "referenceAllele": "G", "start": 1042 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "ENST00000247933.8:c.955G>A" ], "proteinEffect": { "hgvs": "ENSP00000247933.4:p.Ala319Thr", "hgvsWellDefined": "ENSP00000247933.4:p.Ala319Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS249529" }, { "coordinates": [ { "allele": "A", "end": 1011, "referenceAllele": "G", "start": 1010 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "ENST00000514224.1:c.559G>A" ], "proteinEffect": { "hgvs": "ENSP00000425081.1:p.Ala187Thr", "hgvsWellDefined": "ENSP00000425081.1:p.Ala187Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS343765" }, { "coordinates": [ { "allele": "A", "end": 955, "referenceAllele": "G", "start": 954 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "ENST00000514698.5:n.955G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS344122" }, { "@id": "http://reg.genome.network/allele/PA2580108967", "coordinates": [ { "allele": "A", "end": 1043, "referenceAllele": "G", "start": 1042 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "NM_000203.4:c.955G>A" ], "proteinEffect": { "hgvs": "NP_000194.2:p.Ala319Thr", "hgvsWellDefined": "NP_000194.2:p.Ala319Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS006267" }, { "coordinates": [ { "allele": "A", "end": 1043, "referenceAllele": "G", "start": 1042 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "NR_110313.1:n.1043G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS054592" }, { "coordinates": [ { "allele": "A", "end": 1297, "referenceAllele": "G", "start": 1296 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "XM_006713882.2:c.559G>A" ], "proteinEffect": { "hgvs": "XP_006713945.1:p.Ala187Thr", "hgvsWellDefined": "XP_006713945.1:p.Ala187Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS070402" }, { "coordinates": [ { "allele": "A", "end": 955, "referenceAllele": "G", "start": 954 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "XM_011513459.1:c.914G>A" ], "proteinEffect": { "hgvs": "XP_011511761.1:p.Arg305His", "hgvsWellDefined": "XP_011511761.1:p.Arg305His" }, "referenceSequence": "http://reg.genome.network/refseq/RS080706" }, { "coordinates": [ { "allele": "A", "end": 855, "referenceAllele": "G", "start": 854 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "XM_011513460.1:c.814G>A" ], "proteinEffect": { "hgvs": "XP_011511762.1:p.Ala272Thr", "hgvsWellDefined": "XP_011511762.1:p.Ala272Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS080707" }, { "coordinates": [ { "allele": "A", "end": 1015, "referenceAllele": "G", "start": 1014 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "XM_011513461.1:c.748G>A" ], "proteinEffect": { "hgvs": "XP_011511763.1:p.Ala250Thr", "hgvsWellDefined": "XP_011511763.1:p.Ala250Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS080708" }, { "coordinates": [ { "allele": "A", "end": 1564, "referenceAllele": "G", "start": 1563 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "XM_011513462.1:c.667G>A" ], "proteinEffect": { "hgvs": "XP_011511764.1:p.Ala223Thr", "hgvsWellDefined": "XP_011511764.1:p.Ala223Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS080709" }, { "coordinates": [ { "allele": "A", "end": 862, "referenceAllele": "G", "start": 861 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "XM_011513463.1:c.667G>A" ], "proteinEffect": { "hgvs": "XP_011511765.1:p.Ala223Thr", "hgvsWellDefined": "XP_011511765.1:p.Ala223Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS080710" }, { "coordinates": [ { "allele": "A", "end": 1024, "referenceAllele": "G", "start": 1023 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "XR_924947.1:n.1024G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS121993" }, { "@id": "http://reg.genome.network/allele/PA2580108967", "coordinates": [ { "allele": "A", "end": 996, "referenceAllele": "G", "start": 995 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "NM_000203.5:c.955G>A" ], "proteinEffect": { "hgvs": "NP_000194.2:p.Ala319Thr", "hgvsWellDefined": "NP_000194.2:p.Ala319Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS510765", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000514224.2:c.955G>A" }, "RefSeq": { "hgvs": "NM_000203.5:c.955G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000425081.2:p.Ala319Thr" }, "RefSeq": { "hgvs": "NP_000194.2:p.Ala319Thr" } } } }, { "@id": "http://reg.genome.network/allele/PA2828097230", "coordinates": [ { "allele": "A", "end": 1011, "referenceAllele": "G", "start": 1010 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "NM_001363576.1:c.559G>A" ], "proteinEffect": { "hgvs": "NP_001350505.1:p.Ala187Thr", "hgvsWellDefined": "NP_001350505.1:p.Ala187Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS523396" }, { "coordinates": [ { "allele": "A", "end": 1188, "referenceAllele": "G", "start": 1187 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "XM_011513461.2:c.748G>A" ], "proteinEffect": { "hgvs": "XP_011511763.1:p.Ala250Thr", "hgvsWellDefined": "XP_011511763.1:p.Ala250Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS542922" }, { "coordinates": [ { "allele": "A", "end": 1497, "referenceAllele": "G", "start": 1496 } ], "gene": "http://reg.genome.network/gene/GN005391", "geneNCBI_id": 3425, "geneSymbol": "IDUA", "hgvs": [ "XM_017008163.1:c.-6G>A" ], "proteinEffect": { "hgvs": "XP_016863652.1:n.-6G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS562720" } ], "type": "nucleotide" }