Canonical Allele Identifier: CA414523145

Gene: IDS

Linked Data

• ClinVar Variation Id: 996749
• ClinVar RCV Id: RCV001563681
• dbSNP Id: rs193302914
• gnomAD v4: X-149501001-C-T
• MyVariant Identifiers: chrX:g.148582532C>T (hg19) ; chrX:g.149501001C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149501001C>T , CM000685.2:g.149501001C>T	GRCh38
NC_000023.10:g.148582532C>T , CM000685.1:g.148582532C>T	GRCh37
NC_000023.9:g.148390437C>T	NCBI36
NG_011900.3:g.9334G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.455G>A MANE Select	ENSP00000339801.6:p.Ser152Asn
ENST00000651111.1:c.-179G>A	ENSP00000498395.1:n.-179G>A
ENST00000340855.10:c.455G>A	ENSP00000339801.6:p.Ser152Asn
ENST00000370441.8:c.455G>A	ENSP00000359470.4:p.Ser152Asn
ENST00000422081.6:c.-179G>A	ENSP00000477056.1:n.-179G>A
ENST00000441880.1:n.114-13903G>A
ENST00000464251.5:c.381G>A	ENSP00000428980.1:n.381G>A
ENST00000466323.5:c.455G>A	ENSP00000418264.1:p.Ser152Asn
ENST00000490775.5:n.114G>A
ENST00000523759.5:n.569G>A
NM_000202.6:c.455G>A	NP_000193.1:p.Ser152Asn
NM_001166550.2:c.185G>A	NP_001160022.1:p.Ser62Asn
NM_006123.4:c.455G>A	NP_006114.1:p.Ser152Asn
NR_104128.1:n.672G>A
NM_000202.7:c.455G>A	NP_000193.1:p.Ser152Asn
NM_001166550.3:c.185G>A	NP_001160022.1:p.Ser62Asn
NM_000202.8:c.455G>A MANE Select	NP_000193.1:p.Ser152Asn
NM_001166550.4:c.185G>A	NP_001160022.1:p.Ser62Asn
NM_006123.5:c.455G>A	NP_006114.1:p.Ser152Asn
NR_104128.2:n.624G>A