{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA279299797", "communityStandardTitle": [ "NM_003361.4(UMOD):c.599G>A (p.Arg200His)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1400118[alleleid]", "alleleId": 1400118, "preferredName": "NM_003361.4(UMOD):c.599G>A (p.Arg200His)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1448106", "RCV": [ "RCV002012063", "RCV002492089", "RCV004043849" ], "variationId": 1448106 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.20360024C>T?assembly=hg19", "id": "chr16:g.20360024C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.20348702C>T?assembly=hg38", "id": "chr16:g.20348702C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/940287917", "rs": 940287917 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/16-20360024-C-T?dataset=gnomad_r2_1", "id": "16-20360024-C-T", "variant": "16:20360024 C / T" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/16-20348702-C-T?dataset=gnomad_r3", "id": "16-20348702-C-T", "variant": "16:20348702 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/16-20348702-C-T?dataset=gnomad_r4", "id": "16-20348702-C-T", "variant": "16:20348702 C / T" } ] }, "genomicAlleles": [ { "chromosome": "16", "coordinates": [ { "allele": "T", "end": 20348702, "referenceAllele": "C", "start": 20348701 } ], "hgvs": [ "NC_000016.10:g.20348702C>T", "CM000678.2:g.20348702C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000064" }, { "chromosome": "16", "coordinates": [ { "allele": "T", "end": 20360024, "referenceAllele": "C", "start": 20360023 } ], "hgvs": [ "NC_000016.9:g.20360024C>T", "CM000678.1:g.20360024C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000040" }, { "chromosome": "16", "coordinates": [ { "allele": "T", "end": 20267525, "referenceAllele": "C", "start": 20267524 } ], "hgvs": [ "NC_000016.8:g.20267525C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000016" }, { "coordinates": [ { "allele": "A", "end": 9014, "referenceAllele": "G", "start": 9013 } ], "hgvs": [ "NG_008151.1:g.9014G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS000897" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 728, "referenceAllele": "G", "start": 727 } ], "gene": "http://reg.genome.network/gene/GN012559", "geneNCBI_id": 7369, "geneSymbol": "UMOD", "hgvs": [ "ENST00000396138.9:c.599G>A" ], "proteinEffect": { "hgvs": "ENSP00000379442.5:p.Arg200His", "hgvsWellDefined": "ENSP00000379442.5:p.Arg200His" }, "referenceSequence": "http://reg.genome.network/refseq/RS753491", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000396138.9:c.599G>A" }, "RefSeq": { "hgvs": "NM_003361.4:c.599G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000379442.5:p.Arg200His" }, "RefSeq": { "hgvs": "NP_003352.2:p.Arg200His" } } } }, { "coordinates": [ { "allele": "A", "end": 891, "referenceAllele": "G", "start": 890 } ], "gene": "http://reg.genome.network/gene/GN012559", "geneNCBI_id": 7369, "geneSymbol": "UMOD", "hgvs": [ "ENST00000302509.8:c.599G>A" ], "proteinEffect": { "hgvs": "ENSP00000306279.4:p.Arg200His", "hgvsWellDefined": "ENSP00000306279.4:p.Arg200His" }, "referenceSequence": "http://reg.genome.network/refseq/RS255189" }, { "coordinates": [ { "allele": "A", "end": 822, "referenceAllele": "G", "start": 821 } ], "gene": "http://reg.genome.network/gene/GN012559", "geneNCBI_id": 7369, "geneSymbol": "UMOD", "hgvs": [ "ENST00000396134.6:c.698G>A" ], "proteinEffect": { "hgvs": "ENSP00000379438.2:p.Arg233His", "hgvsWellDefined": "ENSP00000379438.2:p.Arg233His" }, "referenceSequence": "http://reg.genome.network/refseq/RS277113" }, { "coordinates": [ { "allele": "A", "end": 813, "referenceAllele": "G", "start": 812 } ], "gene": "http://reg.genome.network/gene/GN012559", "geneNCBI_id": 7369, "geneSymbol": "UMOD", "hgvs": [ "ENST00000396138.8:c.746G>A" ], "proteinEffect": { "hgvs": "ENSP00000379442.4:p.Arg249His", "hgvsWellDefined": "ENSP00000379442.4:p.Arg249His" }, "referenceSequence": "http://reg.genome.network/refseq/RS277116" }, { "coordinates": [ { "allele": "A", "end": 746, "referenceAllele": "G", "start": 745 } ], "gene": "http://reg.genome.network/gene/GN012559", "geneNCBI_id": 7369, "geneSymbol": "UMOD", "hgvs": [ "ENST00000570689.5:c.599G>A" ], "proteinEffect": { "hgvs": "ENSP00000460548.1:p.Arg200His", "hgvsWellDefined": "ENSP00000460548.1:p.Arg200His" }, "referenceSequence": "http://reg.genome.network/refseq/RS382193" }, { "@id": "http://reg.genome.network/allele/PA2825291421", "coordinates": [ { "allele": "A", "end": 828, "referenceAllele": "G", "start": 827 } ], "gene": "http://reg.genome.network/gene/GN012559", "geneNCBI_id": 7369, "geneSymbol": "UMOD", "hgvs": [ "NM_001008389.2:c.599G>A" ], "proteinEffect": { "hgvs": "NP_001008390.1:p.Arg200His", "hgvsWellDefined": "NP_001008390.1:p.Arg200His" }, "referenceSequence": "http://reg.genome.network/refseq/RS007987" }, { "@id": "http://reg.genome.network/allele/PA2573194089", "coordinates": [ { "allele": "A", "end": 990, "referenceAllele": "G", "start": 989 } ], "gene": "http://reg.genome.network/gene/GN012559", "geneNCBI_id": 7369, "geneSymbol": "UMOD", "hgvs": [ "NM_001278614.1:c.698G>A" ], "proteinEffect": { "hgvs": "NP_001265543.1:p.Arg233His", "hgvsWellDefined": "NP_001265543.1:p.Arg233His" }, "referenceSequence": "http://reg.genome.network/refseq/RS021410" }, { "@id": "http://reg.genome.network/allele/PA2829447292", "coordinates": [ { "allele": "A", "end": 891, "referenceAllele": "G", "start": 890 } ], "gene": "http://reg.genome.network/gene/GN012559", "geneNCBI_id": 7369, "geneSymbol": "UMOD", "hgvs": [ "NM_003361.3:c.599G>A" ], "proteinEffect": { "hgvs": "NP_003352.2:p.Arg200His", "hgvsWellDefined": "NP_003352.2:p.Arg200His" }, "referenceSequence": "http://reg.genome.network/refseq/RS028607" }, { "coordinates": [ { "allele": "A", "end": 828, "referenceAllele": "G", "start": 827 } ], "gene": "http://reg.genome.network/gene/GN012559", "geneNCBI_id": 7369, "geneSymbol": "UMOD", "hgvs": [ "XM_011545934.1:c.683G>A" ], "proteinEffect": { "hgvs": "XP_011544236.1:p.Arg228His", "hgvsWellDefined": "XP_011544236.1:p.Arg228His" }, "referenceSequence": "http://reg.genome.network/refseq/RS112816" }, { "coordinates": [ { "allele": "A", "end": 887, "referenceAllele": "G", "start": 886 } ], "gene": "http://reg.genome.network/gene/GN012559", "geneNCBI_id": 7369, "geneSymbol": "UMOD", "hgvs": [ "XM_011545935.1:c.599G>A" ], "proteinEffect": { "hgvs": "XP_011544237.1:p.Arg200His", "hgvsWellDefined": "XP_011544237.1:p.Arg200His" }, "referenceSequence": "http://reg.genome.network/refseq/RS112817" }, { "coordinates": [ { "allele": "A", "end": 824, "referenceAllele": "G", "start": 823 } ], "gene": "http://reg.genome.network/gene/GN012559", "geneNCBI_id": 7369, "geneSymbol": "UMOD", "hgvs": [ "XM_011545936.1:c.599G>A" ], "proteinEffect": { "hgvs": "XP_011544238.1:p.Arg200His", "hgvsWellDefined": "XP_011544238.1:p.Arg200His" }, "referenceSequence": "http://reg.genome.network/refseq/RS112818" }, { "coordinates": [ { "allele": "A", "end": 714, "referenceAllele": "G", "start": 713 } ], "gene": "http://reg.genome.network/gene/GN012559", "geneNCBI_id": 7369, "geneSymbol": "UMOD", "hgvs": [ "XM_011545937.1:c.599G>A" ], "proteinEffect": { "hgvs": "XP_011544239.1:p.Arg200His", "hgvsWellDefined": "XP_011544239.1:p.Arg200His" }, "referenceSequence": "http://reg.genome.network/refseq/RS112819" }, { "coordinates": [ { "allele": "A", "end": 746, "referenceAllele": "G", "start": 745 } ], "gene": "http://reg.genome.network/gene/GN012559", "geneNCBI_id": 7369, "geneSymbol": "UMOD", "hgvs": [ "XM_011545938.1:c.599G>A" ], "proteinEffect": { "hgvs": "XP_011544240.1:p.Arg200His", "hgvsWellDefined": "XP_011544240.1:p.Arg200His" }, "referenceSequence": "http://reg.genome.network/refseq/RS112820" }, { "coordinates": [ { "allele": "A", "end": 828, "referenceAllele": "G", "start": 827 } ], "gene": "http://reg.genome.network/gene/GN012559", "geneNCBI_id": 7369, "geneSymbol": "UMOD", "hgvs": [ "XM_011545939.1:c.683G>A" ], "proteinEffect": { "hgvs": "XP_011544241.1:p.Arg228His", "hgvsWellDefined": "XP_011544241.1:p.Arg228His" }, "referenceSequence": "http://reg.genome.network/refseq/RS112821" }, { "coordinates": [ { "allele": "A", "end": 764, "referenceAllele": "G", "start": 763 } ], "gene": "http://reg.genome.network/gene/GN012559", "geneNCBI_id": 7369, "geneSymbol": "UMOD", "hgvs": [ "XM_011545940.1:c.746G>A" ], "proteinEffect": { "hgvs": "XP_011544242.1:p.Arg249His", "hgvsWellDefined": "XP_011544242.1:p.Arg249His" }, "referenceSequence": "http://reg.genome.network/refseq/RS112822" }, { "coordinates": [ { "allele": "A", "end": 665, "referenceAllele": "G", "start": 664 } ], "gene": "http://reg.genome.network/gene/GN012559", "geneNCBI_id": 7369, "geneSymbol": "UMOD", "hgvs": [ "XM_011545934.2:c.599G>A" ], "proteinEffect": { "hgvs": "XP_011544236.2:p.Arg200His", "hgvsWellDefined": "XP_011544236.2:p.Arg200His" }, "referenceSequence": "http://reg.genome.network/refseq/RS556312" }, { "coordinates": [ { "allele": "A", "end": 728, "referenceAllele": "G", "start": 727 } ], "gene": "http://reg.genome.network/gene/GN012559", "geneNCBI_id": 7369, "geneSymbol": "UMOD", "hgvs": [ "XM_011545940.2:c.599G>A" ], "proteinEffect": { "hgvs": "XP_011544242.2:p.Arg200His", "hgvsWellDefined": "XP_011544242.2:p.Arg200His" }, "referenceSequence": "http://reg.genome.network/refseq/RS556313" }, { "coordinates": [ { "allele": "A", "end": 871, "referenceAllele": "G", "start": 870 } ], "gene": "http://reg.genome.network/gene/GN012559", "geneNCBI_id": 7369, "geneSymbol": "UMOD", "hgvs": [ "XM_024450433.1:c.599G>A" ], "proteinEffect": { "hgvs": "XP_024306201.1:p.Arg200His", "hgvsWellDefined": "XP_024306201.1:p.Arg200His" }, "referenceSequence": "http://reg.genome.network/refseq/RS583969" }, { "@id": "http://reg.genome.network/allele/PA2825291421", "coordinates": [ { "allele": "A", "end": 665, "referenceAllele": "G", "start": 664 } ], "gene": "http://reg.genome.network/gene/GN012559", "geneNCBI_id": 7369, "geneSymbol": "UMOD", "hgvs": [ "NM_001008389.3:c.599G>A" ], "proteinEffect": { "hgvs": "NP_001008390.1:p.Arg200His", "hgvsWellDefined": "NP_001008390.1:p.Arg200His" }, "referenceSequence": "http://reg.genome.network/refseq/RS675306" }, { "@id": "http://reg.genome.network/allele/PA2573194089", "coordinates": [ { "allele": "A", "end": 827, "referenceAllele": "G", "start": 826 } ], "gene": "http://reg.genome.network/gene/GN012559", "geneNCBI_id": 7369, "geneSymbol": "UMOD", "hgvs": [ "NM_001278614.2:c.698G>A" ], "proteinEffect": { "hgvs": "NP_001265543.1:p.Arg233His", "hgvsWellDefined": "NP_001265543.1:p.Arg233His" }, "referenceSequence": "http://reg.genome.network/refseq/RS681526" }, { "@id": "http://reg.genome.network/allele/PA2828749277", "coordinates": [ { "allele": "A", "end": 824, "referenceAllele": "G", "start": 823 } ], "gene": "http://reg.genome.network/gene/GN012559", "geneNCBI_id": 7369, "geneSymbol": "UMOD", "hgvs": [ "NM_001378232.1:c.599G>A" ], "proteinEffect": { "hgvs": "NP_001365161.1:p.Arg200His", "hgvsWellDefined": "NP_001365161.1:p.Arg200His" }, "referenceSequence": "http://reg.genome.network/refseq/RS721584" }, { "@id": "http://reg.genome.network/allele/PA2828749598", "coordinates": [ { "allele": "A", "end": 887, "referenceAllele": "G", "start": 886 } ], "gene": "http://reg.genome.network/gene/GN012559", "geneNCBI_id": 7369, "geneSymbol": "UMOD", "hgvs": [ "NM_001378233.1:c.599G>A" ], "proteinEffect": { "hgvs": "NP_001365162.1:p.Arg200His", "hgvsWellDefined": "NP_001365162.1:p.Arg200His" }, "referenceSequence": "http://reg.genome.network/refseq/RS721585" }, { "@id": "http://reg.genome.network/allele/PA2828749919", "coordinates": [ { "allele": "A", "end": 665, "referenceAllele": "G", "start": 664 } ], "gene": "http://reg.genome.network/gene/GN012559", "geneNCBI_id": 7369, "geneSymbol": "UMOD", "hgvs": [ "NM_001378234.1:c.599G>A" ], "proteinEffect": { "hgvs": "NP_001365163.1:p.Arg200His", "hgvsWellDefined": "NP_001365163.1:p.Arg200His" }, "referenceSequence": "http://reg.genome.network/refseq/RS721586" }, { "@id": "http://reg.genome.network/allele/PA2828750240", "coordinates": [ { "allele": "A", "end": 728, "referenceAllele": "G", "start": 727 } ], "gene": "http://reg.genome.network/gene/GN012559", "geneNCBI_id": 7369, "geneSymbol": "UMOD", "hgvs": [ "NM_001378235.1:c.599G>A" ], "proteinEffect": { "hgvs": "NP_001365164.1:p.Arg200His", "hgvsWellDefined": "NP_001365164.1:p.Arg200His" }, "referenceSequence": "http://reg.genome.network/refseq/RS721587" }, { "@id": "http://reg.genome.network/allele/PA2828750510", "coordinates": [ { "allele": "A", "end": 824, "referenceAllele": "G", "start": 823 } ], "gene": "http://reg.genome.network/gene/GN012559", "geneNCBI_id": 7369, "geneSymbol": "UMOD", "hgvs": [ "NM_001378237.1:c.599G>A" ], "proteinEffect": { "hgvs": "NP_001365166.1:p.Arg200His", "hgvsWellDefined": "NP_001365166.1:p.Arg200His" }, "referenceSequence": "http://reg.genome.network/refseq/RS721588" }, { "@id": "http://reg.genome.network/allele/PA2829447292", "coordinates": [ { "allele": "A", "end": 728, "referenceAllele": "G", "start": 727 } ], "gene": "http://reg.genome.network/gene/GN012559", "geneNCBI_id": 7369, "geneSymbol": "UMOD", "hgvs": [ "NM_003361.4:c.599G>A" ], "proteinEffect": { "hgvs": "NP_003352.2:p.Arg200His", "hgvsWellDefined": "NP_003352.2:p.Arg200His" }, "referenceSequence": "http://reg.genome.network/refseq/RS727377", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000396138.9:c.599G>A" }, "RefSeq": { "hgvs": "NM_003361.4:c.599G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000379442.5:p.Arg200His" }, "RefSeq": { "hgvs": "NP_003352.2:p.Arg200His" } } } }, { "coordinates": [ { "allele": "A", "end": 824, "referenceAllele": "G", "start": 823 } ], "gene": "http://reg.genome.network/gene/GN012559", "geneNCBI_id": 7369, "geneSymbol": "UMOD", "hgvs": [ "NR_165456.1:n.824G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS731721" } ], "type": "nucleotide" }