Canonical Allele Identifier: CA337035532

Gene: IDS

Linked Data

• dbSNP Id: rs1047741308
• gnomAD v4: X-149483071-C-T
• MyVariant Identifiers: chrX:g.148564602C>T (hg19) ; chrX:g.149483071C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149483071C>T , CM000685.2:g.149483071C>T	GRCh38
NC_000023.10:g.148564602C>T , CM000685.1:g.148564602C>T	GRCh37
NC_000023.9:g.148372507C>T	NCBI36
NG_011900.3:g.27264G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.1328G>A MANE Select	ENSP00000339801.6:p.Arg443Gln
ENST00000651111.1:c.695G>A	ENSP00000498395.1:p.Arg232Gln
ENST00000340855.10:c.1328G>A	ENSP00000339801.6:p.Arg443Gln
ENST00000422081.6:c.695G>A	ENSP00000477056.1:p.Arg232Gln
NM_000202.6:c.1328G>A	NP_000193.1:p.Arg443Gln
NM_001166550.2:c.1058G>A	NP_001160022.1:p.Arg353Gln
NM_000202.7:c.1328G>A	NP_000193.1:p.Arg443Gln
NM_001166550.3:c.1058G>A	NP_001160022.1:p.Arg353Gln
NM_000202.8:c.1328G>A MANE Select	NP_000193.1:p.Arg443Gln
NM_001166550.4:c.1058G>A	NP_001160022.1:p.Arg353Gln