Canonical Allele Identifier: CA414518665

Gene: IDS

Linked Data

• MyVariant Identifiers: chrX:g.148568458G>C (hg19) ; chrX:g.149486927G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149486927G>C , CM000685.2:g.149486927G>C	GRCh38
NC_000023.10:g.148568458G>C , CM000685.1:g.148568458G>C	GRCh37
NC_000023.9:g.148376363G>C	NCBI36
NG_011900.3:g.23408C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.1178C>G MANE Select	ENSP00000339801.6:p.Pro393Arg
ENST00000651111.1:c.545C>G	ENSP00000498395.1:p.Pro182Arg
ENST00000340855.10:c.1178C>G	ENSP00000339801.6:p.Pro393Arg
ENST00000422081.6:c.545C>G	ENSP00000477056.1:p.Pro182Arg
ENST00000441880.1:n.285C>G
NM_000202.6:c.1178C>G	NP_000193.1:p.Pro393Arg
NM_001166550.2:c.908C>G	NP_001160022.1:p.Pro303Arg
NM_000202.7:c.1178C>G	NP_000193.1:p.Pro393Arg
NM_001166550.3:c.908C>G	NP_001160022.1:p.Pro303Arg
NM_000202.8:c.1178C>G MANE Select	NP_000193.1:p.Pro393Arg
NM_001166550.4:c.908C>G	NP_001160022.1:p.Pro303Arg