Canonical Allele Identifier: CA414522453

Gene: IDS

Linked Data

• dbSNP Id: rs2089452169
• gnomAD v3: X-149498238-C-T
• gnomAD v4: X-149498238-C-T
• MyVariant Identifiers: chrX:g.148579769C>T (hg19) ; chrX:g.149498238C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149498238C>T , CM000685.2:g.149498238C>T	GRCh38
NC_000023.10:g.148579769C>T , CM000685.1:g.148579769C>T	GRCh37
NC_000023.9:g.148387674C>T	NCBI36
NG_011900.3:g.12097G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.577G>A MANE Select	ENSP00000339801.6:p.Glu193Lys
ENST00000651111.1:c.-57G>A	ENSP00000498395.1:n.-57G>A
ENST00000340855.10:c.577G>A	ENSP00000339801.6:p.Glu193Lys
ENST00000370441.8:c.577G>A	ENSP00000359470.4:p.Glu193Lys
ENST00000422081.6:c.-57G>A	ENSP00000477056.1:n.-57G>A
ENST00000441880.1:n.114-11140G>A
ENST00000464251.5:c.503G>A	ENSP00000428980.1:n.503G>A
ENST00000466019.1:n.29G>A
ENST00000466323.5:c.577G>A	ENSP00000418264.1:p.Glu193Lys
ENST00000490775.5:n.362G>A
ENST00000523759.5:n.691G>A
NM_000202.6:c.577G>A	NP_000193.1:p.Glu193Lys
NM_001166550.2:c.307G>A	NP_001160022.1:p.Glu103Lys
NM_006123.4:c.577G>A	NP_006114.1:p.Glu193Lys
NR_104128.1:n.794G>A
NM_000202.7:c.577G>A	NP_000193.1:p.Glu193Lys
NM_001166550.3:c.307G>A	NP_001160022.1:p.Glu103Lys
NM_000202.8:c.577G>A MANE Select	NP_000193.1:p.Glu193Lys
NM_001166550.4:c.307G>A	NP_001160022.1:p.Glu103Lys
NM_006123.5:c.577G>A	NP_006114.1:p.Glu193Lys
NR_104128.2:n.746G>A