Canonical Allele Identifier: CA16608716

Gene: IDS

Linked Data

• ClinVar Variation Id: 383181
• ClinVar RCV Id: RCV000429619
• dbSNP Id: rs864622772
• MyVariant Identifiers: chrX:g.148564537G>T (hg19) ; chrX:g.149483006G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149483006G>T , CM000685.2:g.149483006G>T	GRCh38
NC_000023.10:g.148564537G>T , CM000685.1:g.148564537G>T	GRCh37
NC_000023.9:g.148372442G>T	NCBI36
NG_011900.3:g.27329C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000340855.11:c.1393C>A MANE Select	ENSP00000339801.6:p.Gln465Lys
ENST00000651111.1:c.760C>A	ENSP00000498395.1:p.Gln254Lys
ENST00000340855.10:c.1393C>A	ENSP00000339801.6:p.Gln465Lys
ENST00000422081.6:c.760C>A	ENSP00000477056.1:p.Gln254Lys
NM_000202.6:c.1393C>A	NP_000193.1:p.Gln465Lys
NM_001166550.2:c.1123C>A	NP_001160022.1:p.Gln375Lys
NM_000202.7:c.1393C>A	NP_000193.1:p.Gln465Lys
NM_001166550.3:c.1123C>A	NP_001160022.1:p.Gln375Lys
NM_000202.8:c.1393C>A MANE Select	NP_000193.1:p.Gln465Lys
NM_001166550.4:c.1123C>A	NP_001160022.1:p.Gln375Lys