Canonical Allele Identifier: CA519057388

Gene: IDS

Linked Data

• ClinVar Variation Id: 1089630
• ClinVar RCV Id: RCV001408498 ; RCV003900402
• dbSNP Id: rs2089303285
• MyVariant Identifiers: chrX:g.148564322A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149482791A>G , CM000685.2:g.149482791A>G	GRCh38
NC_000023.10:g.148564322A>G , CM000685.1:g.148564322A>G	GRCh37
NC_000023.9:g.148372227A>G	NCBI36
NG_011900.3:g.27544T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.1608T>C MANE Select	ENSP00000339801.6:p.Tyr536=
ENST00000651111.1:c.975T>C	ENSP00000498395.1:p.Tyr325=
ENST00000340855.10:c.1608T>C	ENSP00000339801.6:p.Tyr536=
ENST00000422081.6:c.975T>C	ENSP00000477056.1:p.Tyr325=
NM_000202.6:c.1608T>C	NP_000193.1:p.Tyr536=
NM_001166550.2:c.1338T>C	NP_001160022.1:p.Tyr446=
NM_000202.7:c.1608T>C	NP_000193.1:p.Tyr536=
NM_001166550.3:c.1338T>C	NP_001160022.1:p.Tyr446=
NM_000202.8:c.1608T>C MANE Select	NP_000193.1:p.Tyr536=
NM_001166550.4:c.1338T>C	NP_001160022.1:p.Tyr446=