Canonical Allele Identifier: CA414518382

Gene: IDS

Linked Data

• ClinVar Variation Id: 2416338
• ClinVar RCV Id: RCV003107087
• dbSNP Id: rs2089307002
• gnomAD v3: X-149483096-C-A
• gnomAD v4: X-149483096-C-A
• MyVariant Identifiers: chrX:g.148564627C>A (hg19) ; chrX:g.149483096C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149483096C>A , CM000685.2:g.149483096C>A	GRCh38
NC_000023.10:g.148564627C>A , CM000685.1:g.148564627C>A	GRCh37
NC_000023.9:g.148372532C>A	NCBI36
NG_011900.3:g.27239G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.1303G>T MANE Select	ENSP00000339801.6:p.Gly435Cys
ENST00000651111.1:c.670G>T	ENSP00000498395.1:p.Gly224Cys
ENST00000340855.10:c.1303G>T	ENSP00000339801.6:p.Gly435Cys
ENST00000422081.6:c.670G>T	ENSP00000477056.1:p.Gly224Cys
ENST00000441880.1:n.410G>T
NM_000202.6:c.1303G>T	NP_000193.1:p.Gly435Cys
NM_001166550.2:c.1033G>T	NP_001160022.1:p.Gly345Cys
NM_000202.7:c.1303G>T	NP_000193.1:p.Gly435Cys
NM_001166550.3:c.1033G>T	NP_001160022.1:p.Gly345Cys
NM_000202.8:c.1303G>T MANE Select	NP_000193.1:p.Gly435Cys
NM_001166550.4:c.1033G>T	NP_001160022.1:p.Gly345Cys