Canonical Allele Identifier: CA414518388

Gene: IDS

Linked Data

• dbSNP Id: rs2089307064
• gnomAD v3: X-149483098-T-C
• gnomAD v4: X-149483098-T-C
• MyVariant Identifiers: chrX:g.148564629T>C (hg19) ; chrX:g.149483098T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149483098T>C , CM000685.2:g.149483098T>C	GRCh38
NC_000023.10:g.148564629T>C , CM000685.1:g.148564629T>C	GRCh37
NC_000023.9:g.148372534T>C	NCBI36
NG_011900.3:g.27237A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.1301A>G MANE Select	ENSP00000339801.6:p.Glu434Gly
ENST00000651111.1:c.668A>G	ENSP00000498395.1:p.Glu223Gly
ENST00000340855.10:c.1301A>G	ENSP00000339801.6:p.Glu434Gly
ENST00000422081.6:c.668A>G	ENSP00000477056.1:p.Glu223Gly
ENST00000441880.1:n.408A>G
NM_000202.6:c.1301A>G	NP_000193.1:p.Glu434Gly
NM_001166550.2:c.1031A>G	NP_001160022.1:p.Glu344Gly
NM_000202.7:c.1301A>G	NP_000193.1:p.Glu434Gly
NM_001166550.3:c.1031A>G	NP_001160022.1:p.Glu344Gly
NM_000202.8:c.1301A>G MANE Select	NP_000193.1:p.Glu434Gly
NM_001166550.4:c.1031A>G	NP_001160022.1:p.Glu344Gly