Canonical Allele Identifier: CA645070958

Gene: IDS

Linked Data

• ClinVar Variation Id: 2715944
• ClinVar RCV Id: RCV003510881
• dbSNP Id: rs1557338098
• gnomAD v2: X-148568442-A-G
• gnomAD v4: X-149486911-A-G
• MyVariant Identifiers: chrX:g.148568442A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149486911A>G , CM000685.2:g.149486911A>G	GRCh38
NC_000023.10:g.148568442A>G , CM000685.1:g.148568442A>G	GRCh37
NC_000023.9:g.148376347A>G	NCBI36
NG_011900.3:g.23424T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.1180+14T>C MANE Select	ENSP00000339801.6:n.1180+14T>C
ENST00000651111.1:c.547+14T>C	ENSP00000498395.1:n.547+14T>C
ENST00000340855.10:c.1180+14T>C	ENSP00000339801.6:n.1180+14T>C
ENST00000422081.6:c.547+14T>C	ENSP00000477056.1:n.547+14T>C
ENST00000441880.1:n.287+14T>C
NM_000202.6:c.1180+14T>C	NP_000193.1:n.1180+14T>C
NM_001166550.2:c.910+14T>C	NP_001160022.1:n.910+14T>C
NM_000202.7:c.1180+14T>C	NP_000193.1:n.1180+14T>C
NM_001166550.3:c.910+14T>C	NP_001160022.1:n.910+14T>C
NM_000202.8:c.1180+14T>C MANE Select	NP_000193.1:n.1180+14T>C
NM_001166550.4:c.910+14T>C	NP_001160022.1:n.910+14T>C