Canonical Allele Identifier: CA220494
Gene: IDS HGNC NCBI

Linked Data

ClinVar Variation Id: 92618
ClinVar RCV Id: RCV000177014 RCV000790676
dbSNP Id: rs398123249
MyVariant Identifiers: chrX:g.148584998G>A (hg19) chrX:g.149503468G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.149503468G>A , CM000685.2:g.149503468G>A GRCh38
NC_000023.10:g.148584998G>A , CM000685.1:g.148584998G>A GRCh37
NC_000023.9:g.148392903G>A NCBI36
NG_011900.3:g.6867C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000340855.11:c.262C>T MANE Select ENSP00000339801.6:p.Arg88Cys
ENST00000651111.1:c.-215-2431C>T ENSP00000498395.1:n.-215-2431C>T
ENST00000340855.10:c.262C>T ENSP00000339801.6:p.Arg88Cys
ENST00000370441.8:c.262C>T ENSP00000359470.4:p.Arg88Cys
ENST00000422081.6:c.-215-2431C>T ENSP00000477056.1:n.-215-2431C>T
ENST00000427113.2:n.770-1245C>T
ENST00000428056.6:c.262C>T ENSP00000390241.2:p.Arg88Cys
ENST00000441880.1:n.114-16370C>T
ENST00000464251.5:c.85C>T ENSP00000428980.1:p.Arg29Cys
ENST00000466323.5:c.262C>T ENSP00000418264.1:p.Arg88Cys
ENST00000523759.5:n.533-2431C>T
NM_000202.6:c.262C>T NP_000193.1:p.Arg88Cys
NM_001166550.2:c.15-23C>T NP_001160022.1:n.15-23C>T
NM_006123.4:c.262C>T NP_006114.1:p.Arg88Cys
NR_104128.1:n.479C>T
NM_000202.7:c.262C>T NP_000193.1:p.Arg88Cys
NM_001166550.3:c.15-23C>T NP_001160022.1:n.15-23C>T
NM_000202.8:c.262C>T MANE Select NP_000193.1:p.Arg88Cys
NM_001166550.4:c.15-23C>T NP_001160022.1:n.15-23C>T
NM_006123.5:c.262C>T NP_006114.1:p.Arg88Cys
NR_104128.2:n.431C>T
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