Canonical Allele Identifier: CA414518399

Gene: IDS

Linked Data

• ClinVar Variation Id: 1026222
• ClinVar RCV Id: RCV001326645 ; RCV001831019
• dbSNP Id: rs2089307094
• gnomAD v4: X-149483102-T-C
• MyVariant Identifiers: chrX:g.148564633T>C (hg19) ; chrX:g.149483102T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149483102T>C , CM000685.2:g.149483102T>C	GRCh38
NC_000023.10:g.148564633T>C , CM000685.1:g.148564633T>C	GRCh37
NC_000023.9:g.148372538T>C	NCBI36
NG_011900.3:g.27233A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.1297A>G MANE Select	ENSP00000339801.6:p.Arg433Gly
ENST00000651111.1:c.664A>G	ENSP00000498395.1:p.Arg222Gly
ENST00000340855.10:c.1297A>G	ENSP00000339801.6:p.Arg433Gly
ENST00000422081.6:c.664A>G	ENSP00000477056.1:p.Arg222Gly
ENST00000441880.1:n.404A>G
NM_000202.6:c.1297A>G	NP_000193.1:p.Arg433Gly
NM_001166550.2:c.1027A>G	NP_001160022.1:p.Arg343Gly
NM_000202.7:c.1297A>G	NP_000193.1:p.Arg433Gly
NM_001166550.3:c.1027A>G	NP_001160022.1:p.Arg343Gly
NM_000202.8:c.1297A>G MANE Select	NP_000193.1:p.Arg433Gly
NM_001166550.4:c.1027A>G	NP_001160022.1:p.Arg343Gly