Canonical Allele Identifier: CA519058430

Gene: IDS

Linked Data

• ClinVar Variation Id: 1130937
• ClinVar RCV Id: RCV001464644
• dbSNP Id: rs2124047211
• gnomAD v4: X-149498281-G-A
• COSMIC: COSM3558977 ; COSM3558978 ; COSM3558979
• MyVariant Identifiers: chrX:g.148579812G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149498281G>A , CM000685.2:g.149498281G>A	GRCh38
NC_000023.10:g.148579812G>A , CM000685.1:g.148579812G>A	GRCh37
NC_000023.9:g.148387717G>A	NCBI36
NG_011900.3:g.12054C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.534C>T MANE Select	ENSP00000339801.6:p.Leu178=
ENST00000651111.1:c.-100C>T	ENSP00000498395.1:n.-100C>T
ENST00000340855.10:c.534C>T	ENSP00000339801.6:p.Leu178=
ENST00000370441.8:c.534C>T	ENSP00000359470.4:p.Leu178=
ENST00000422081.6:c.-100C>T	ENSP00000477056.1:n.-100C>T
ENST00000441880.1:n.114-11183C>T
ENST00000464251.5:c.460C>T	ENSP00000428980.1:n.460C>T
ENST00000466323.5:c.534C>T	ENSP00000418264.1:p.Leu178=
ENST00000490775.5:n.319C>T
ENST00000523759.5:n.648C>T
NM_000202.6:c.534C>T	NP_000193.1:p.Leu178=
NM_001166550.2:c.264C>T	NP_001160022.1:p.Leu88=
NM_006123.4:c.534C>T	NP_006114.1:p.Leu178=
NR_104128.1:n.751C>T
NM_000202.7:c.534C>T	NP_000193.1:p.Leu178=
NM_001166550.3:c.264C>T	NP_001160022.1:p.Leu88=
NM_000202.8:c.534C>T MANE Select	NP_000193.1:p.Leu178=
NM_001166550.4:c.264C>T	NP_001160022.1:p.Leu88=
NM_006123.5:c.534C>T	NP_006114.1:p.Leu178=
NR_104128.2:n.703C>T