Canonical Allele Identifier: CA414522339

Gene: IDS

Linked Data

• ClinVar Variation Id: 816852
• ClinVar RCV Id: RCV001007857
• dbSNP Id: rs864622779
• gnomAD v4: X-149498202-C-T
• MyVariant Identifiers: chrX:g.148579733C>T (hg19) ; chrX:g.149498202C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149498202C>T , CM000685.2:g.149498202C>T	GRCh38
NC_000023.10:g.148579733C>T , CM000685.1:g.148579733C>T	GRCh37
NC_000023.9:g.148387638C>T	NCBI36
NG_011900.3:g.12133G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000340855.11:c.613G>A MANE Select	ENSP00000339801.6:p.Ala205Thr
ENST00000651111.1:c.-21G>A	ENSP00000498395.1:n.-21G>A
ENST00000340855.10:c.613G>A	ENSP00000339801.6:p.Ala205Thr
ENST00000370441.8:c.613G>A	ENSP00000359470.4:p.Ala205Thr
ENST00000422081.6:c.-21G>A	ENSP00000477056.1:n.-21G>A
ENST00000441880.1:n.114-11104G>A
ENST00000464251.5:c.539G>A	ENSP00000428980.1:n.539G>A
ENST00000466019.1:n.65G>A
ENST00000466323.5:c.613G>A	ENSP00000418264.1:p.Ala205Thr
ENST00000490775.5:n.398G>A
ENST00000523759.5:n.727G>A
NM_000202.6:c.613G>A	NP_000193.1:p.Ala205Thr
NM_001166550.2:c.343G>A	NP_001160022.1:p.Ala115Thr
NM_006123.4:c.613G>A	NP_006114.1:p.Ala205Thr
NR_104128.1:n.830G>A
NM_000202.7:c.613G>A	NP_000193.1:p.Ala205Thr
NM_001166550.3:c.343G>A	NP_001160022.1:p.Ala115Thr
NM_000202.8:c.613G>A MANE Select	NP_000193.1:p.Ala205Thr
NM_001166550.4:c.343G>A	NP_001160022.1:p.Ala115Thr
NM_006123.5:c.613G>A	NP_006114.1:p.Ala205Thr
NR_104128.2:n.782G>A