Canonical Allele Identifier: CA414520163

Gene: IDS

Linked Data

• dbSNP Id: rs782261642
• MyVariant Identifiers: chrX:g.148571904C>A (hg19) ; chrX:g.149490373C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149490373C>A , CM000685.2:g.149490373C>A	GRCh38
NC_000023.10:g.148571904C>A , CM000685.1:g.148571904C>A	GRCh37
NC_000023.9:g.148379809C>A	NCBI36
NG_011900.3:g.19962G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.947G>T MANE Select	ENSP00000339801.6:p.Ser316Ile
ENST00000651111.1:c.314G>T	ENSP00000498395.1:p.Ser105Ile
ENST00000340855.10:c.947G>T	ENSP00000339801.6:p.Ser316Ile
ENST00000370441.8:c.947G>T	ENSP00000359470.4:p.Ser316Ile
ENST00000422081.6:c.314G>T	ENSP00000477056.1:p.Ser105Ile
ENST00000441880.1:n.114-3275G>T
ENST00000464251.5:c.873G>T	ENSP00000428980.1:n.873G>T
ENST00000466323.5:c.*138G>T	ENSP00000418264.1:n.*138G>T
ENST00000490775.5:n.732G>T
NM_000202.6:c.947G>T	NP_000193.1:p.Ser316Ile
NM_001166550.2:c.677G>T	NP_001160022.1:p.Ser226Ile
NM_006123.4:c.947G>T	NP_006114.1:p.Ser316Ile
NR_104128.1:n.1294G>T
NM_000202.7:c.947G>T	NP_000193.1:p.Ser316Ile
NM_001166550.3:c.677G>T	NP_001160022.1:p.Ser226Ile
NM_000202.8:c.947G>T MANE Select	NP_000193.1:p.Ser316Ile
NM_001166550.4:c.677G>T	NP_001160022.1:p.Ser226Ile
NM_006123.5:c.947G>T	NP_006114.1:p.Ser316Ile
NR_104128.2:n.1246G>T