Canonical Allele Identifier: CA414518313
Gene: IDS HGNC NCBI

Linked Data

ClinVar Variation Id: 2165769
ClinVar RCV Id: RCV003090151
dbSNP Id: rs929376875
gnomAD v2: X-148564597-G-A
gnomAD v3: X-149483066-G-A
gnomAD v4: X-149483066-G-A
MyVariant Identifiers: chrX:g.148564597G>A (hg19) chrX:g.149483066G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.149483066G>A , CM000685.2:g.149483066G>A GRCh38
NC_000023.10:g.148564597G>A , CM000685.1:g.148564597G>A GRCh37
NC_000023.9:g.148372502G>A NCBI36
NG_011900.3:g.27269C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000340855.11:c.1333C>T MANE Select ENSP00000339801.6:p.Arg445Cys
ENST00000651111.1:c.700C>T ENSP00000498395.1:p.Arg234Cys
ENST00000340855.10:c.1333C>T ENSP00000339801.6:p.Arg445Cys
ENST00000422081.6:c.700C>T ENSP00000477056.1:p.Arg234Cys
NM_000202.6:c.1333C>T NP_000193.1:p.Arg445Cys
NM_001166550.2:c.1063C>T NP_001160022.1:p.Arg355Cys
NM_000202.7:c.1333C>T NP_000193.1:p.Arg445Cys
NM_001166550.3:c.1063C>T NP_001160022.1:p.Arg355Cys
NM_000202.8:c.1333C>T MANE Select NP_000193.1:p.Arg445Cys
NM_001166550.4:c.1063C>T NP_001160022.1:p.Arg355Cys
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