Canonical Allele Identifier: CA340992

Gene: IDS

Linked Data

• ClinVar Variation Id: 10498
• ClinVar RCV Id: RCV000011244 ; RCV000180473 ; RCV000790797
• dbSNP Id: rs113993946
• gnomAD v3: X-149482996-C-T
• gnomAD v4: X-149482996-C-T
• MyVariant Identifiers: chrX:g.148564527C>T (hg19) ; chrX:g.149482996C>T (hg38)
• PubMed: PMID:8364592 ; PMID:9375851 ; PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149482996C>T , CM000685.2:g.149482996C>T	GRCh38
NC_000023.10:g.148564527C>T , CM000685.1:g.148564527C>T	GRCh37
NC_000023.9:g.148372432C>T	NCBI36
NG_011900.3:g.27339G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.1403G>A MANE Select	ENSP00000339801.6:p.Arg468Gln
ENST00000651111.1:c.770G>A	ENSP00000498395.1:p.Arg257Gln
ENST00000340855.10:c.1403G>A	ENSP00000339801.6:p.Arg468Gln
ENST00000422081.6:c.770G>A	ENSP00000477056.1:p.Arg257Gln
NM_000202.6:c.1403G>A	NP_000193.1:p.Arg468Gln
NM_001166550.2:c.1133G>A	NP_001160022.1:p.Arg378Gln
NM_000202.7:c.1403G>A	NP_000193.1:p.Arg468Gln
NM_001166550.3:c.1133G>A	NP_001160022.1:p.Arg378Gln
NM_000202.8:c.1403G>A MANE Select	NP_000193.1:p.Arg468Gln
NM_001166550.4:c.1133G>A	NP_001160022.1:p.Arg378Gln