Canonical Allele Identifier: CA15017410

Gene: IDS

Linked Data

• ClinVar Variation Id: 1260898
• ClinVar RCV Id: RCV001671299
• dbSNP Id: rs725679
• gnomAD v2: X-148568291-T-C
• gnomAD v3: X-149486760-T-C
• gnomAD v4: X-149486760-T-C
• MyVariant Identifiers: chrX:g.148568291T>C (hg19) ; chrX:g.149486760T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149486760T>C , CM000685.2:g.149486760T>C	GRCh38
NC_000023.10:g.148568291T>C , CM000685.1:g.148568291T>C	GRCh37
NG_011900.3:g.23575A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.1180+165A>G MANE Select	ENSP00000339801.6:n.1180+165A>G
ENST00000651111.1:c.547+165A>G	ENSP00000498395.1:n.547+165A>G
ENST00000340855.10:c.1180+165A>G	ENSP00000339801.6:n.1180+165A>G
ENST00000422081.6:c.547+165A>G	ENSP00000477056.1:n.547+165A>G
ENST00000441880.1:n.287+165A>G
NM_000202.6:c.1180+165A>G	NP_000193.1:n.1180+165A>G
NM_001166550.2:c.910+165A>G	NP_001160022.1:n.910+165A>G
NM_000202.7:c.1180+165A>G	NP_000193.1:n.1180+165A>G
NM_001166550.3:c.910+165A>G	NP_001160022.1:n.910+165A>G
NM_000202.8:c.1180+165A>G MANE Select	NP_000193.1:n.1180+165A>G
NM_001166550.4:c.910+165A>G	NP_001160022.1:n.910+165A>G