Canonical Allele Identifier: CA16621219

Gene: IDS

Linked Data

• ClinVar Variation Id: 424167
• ClinVar RCV Id: RCV001293485 ; RCV001785635 ; RCV001834576
• dbSNP Id: rs903259179
• gnomAD v4: X-149490386-C-T
• MyVariant Identifiers: chrX:g.148571917C>T (hg19) ; chrX:g.149490386C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149490386C>T , CM000685.2:g.149490386C>T	GRCh38
NC_000023.10:g.148571917C>T , CM000685.1:g.148571917C>T	GRCh37
NC_000023.9:g.148379822C>T	NCBI36
NG_011900.3:g.19949G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000340855.11:c.934G>A MANE Select	ENSP00000339801.6:p.Gly312Ser
ENST00000651111.1:c.301G>A	ENSP00000498395.1:p.Gly101Ser
ENST00000340855.10:c.934G>A	ENSP00000339801.6:p.Gly312Ser
ENST00000370441.8:c.934G>A	ENSP00000359470.4:p.Gly312Ser
ENST00000422081.6:c.301G>A	ENSP00000477056.1:p.Gly101Ser
ENST00000441880.1:n.114-3288G>A
ENST00000464251.5:c.860G>A	ENSP00000428980.1:n.860G>A
ENST00000466323.5:c.*125G>A	ENSP00000418264.1:n.*125G>A
ENST00000490775.5:n.719G>A
NM_000202.6:c.934G>A	NP_000193.1:p.Gly312Ser
NM_001166550.2:c.664G>A	NP_001160022.1:p.Gly222Ser
NM_006123.4:c.934G>A	NP_006114.1:p.Gly312Ser
NR_104128.1:n.1281G>A
NM_000202.7:c.934G>A	NP_000193.1:p.Gly312Ser
NM_001166550.3:c.664G>A	NP_001160022.1:p.Gly222Ser
NM_000202.8:c.934G>A MANE Select	NP_000193.1:p.Gly312Ser
NM_001166550.4:c.664G>A	NP_001160022.1:p.Gly222Ser
NM_006123.5:c.934G>A	NP_006114.1:p.Gly312Ser
NR_104128.2:n.1233G>A