Canonical Allele Identifier: CA414518139

Gene: IDS

Linked Data

• ClinVar Variation Id: 988763
• ClinVar RCV Id: RCV001797165 ; RCV002537728
• dbSNP Id: rs2089305403
• MyVariant Identifiers: chrX:g.148564512G>A (hg19) ; chrX:g.149482981G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149482981G>A , CM000685.2:g.149482981G>A	GRCh38
NC_000023.10:g.148564512G>A , CM000685.1:g.148564512G>A	GRCh37
NC_000023.9:g.148372417G>A	NCBI36
NG_011900.3:g.27354C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.1418C>T MANE Select	ENSP00000339801.6:p.Pro473Leu
ENST00000651111.1:c.785C>T	ENSP00000498395.1:p.Pro262Leu
ENST00000340855.10:c.1418C>T	ENSP00000339801.6:p.Pro473Leu
ENST00000422081.6:c.785C>T	ENSP00000477056.1:p.Pro262Leu
NM_000202.6:c.1418C>T	NP_000193.1:p.Pro473Leu
NM_001166550.2:c.1148C>T	NP_001160022.1:p.Pro383Leu
NM_000202.7:c.1418C>T	NP_000193.1:p.Pro473Leu
NM_001166550.3:c.1148C>T	NP_001160022.1:p.Pro383Leu
NM_000202.8:c.1418C>T MANE Select	NP_000193.1:p.Pro473Leu
NM_001166550.4:c.1148C>T	NP_001160022.1:p.Pro383Leu