Canonical Allele Identifier: CA414520379

Gene: IDS

Linked Data

• ClinVar Variation Id: 997011
• ClinVar RCV Id: RCV001564022
• dbSNP Id: rs2124020665
• MyVariant Identifiers: chrX:g.148571943G>A (hg19) ; chrX:g.149490412G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149490412G>A , CM000685.2:g.149490412G>A	GRCh38
NC_000023.10:g.148571943G>A , CM000685.1:g.148571943G>A	GRCh37
NC_000023.9:g.148379848G>A	NCBI36
NG_011900.3:g.19923C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.908C>T MANE Select	ENSP00000339801.6:p.Ser303Phe
ENST00000651111.1:c.275C>T	ENSP00000498395.1:p.Ser92Phe
ENST00000340855.10:c.908C>T	ENSP00000339801.6:p.Ser303Phe
ENST00000370441.8:c.908C>T	ENSP00000359470.4:p.Ser303Phe
ENST00000422081.6:c.275C>T	ENSP00000477056.1:p.Ser92Phe
ENST00000441880.1:n.114-3314C>T
ENST00000464251.5:c.834C>T	ENSP00000428980.1:n.834C>T
ENST00000466323.5:c.*99C>T	ENSP00000418264.1:n.*99C>T
ENST00000490775.5:n.693C>T
NM_000202.6:c.908C>T	NP_000193.1:p.Ser303Phe
NM_001166550.2:c.638C>T	NP_001160022.1:p.Ser213Phe
NM_006123.4:c.908C>T	NP_006114.1:p.Ser303Phe
NR_104128.1:n.1255C>T
NM_000202.7:c.908C>T	NP_000193.1:p.Ser303Phe
NM_001166550.3:c.638C>T	NP_001160022.1:p.Ser213Phe
NM_000202.8:c.908C>T MANE Select	NP_000193.1:p.Ser303Phe
NM_001166550.4:c.638C>T	NP_001160022.1:p.Ser213Phe
NM_006123.5:c.908C>T	NP_006114.1:p.Ser303Phe
NR_104128.2:n.1207C>T