Canonical Allele Identifier: CA414522958

Gene: IDS

Linked Data

• gnomAD v4: X-149500960-C-T
• MyVariant Identifiers: chrX:g.148582491C>T (hg19) ; chrX:g.149500960C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149500960C>T , CM000685.2:g.149500960C>T	GRCh38
NC_000023.10:g.148582491C>T , CM000685.1:g.148582491C>T	GRCh37
NC_000023.9:g.148390396C>T	NCBI36
NG_011900.3:g.9375G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.496G>A MANE Select	ENSP00000339801.6:p.Glu166Lys
ENST00000651111.1:c.-138G>A	ENSP00000498395.1:n.-138G>A
ENST00000340855.10:c.496G>A	ENSP00000339801.6:p.Glu166Lys
ENST00000370441.8:c.496G>A	ENSP00000359470.4:p.Glu166Lys
ENST00000422081.6:c.-138G>A	ENSP00000477056.1:n.-138G>A
ENST00000441880.1:n.114-13862G>A
ENST00000464251.5:c.422G>A	ENSP00000428980.1:n.422G>A
ENST00000466323.5:c.496G>A	ENSP00000418264.1:p.Glu166Lys
ENST00000490775.5:n.155G>A
ENST00000523759.5:n.610G>A
NM_000202.6:c.496G>A	NP_000193.1:p.Glu166Lys
NM_001166550.2:c.226G>A	NP_001160022.1:p.Glu76Lys
NM_006123.4:c.496G>A	NP_006114.1:p.Glu166Lys
NR_104128.1:n.713G>A
NM_000202.7:c.496G>A	NP_000193.1:p.Glu166Lys
NM_001166550.3:c.226G>A	NP_001160022.1:p.Glu76Lys
NM_000202.8:c.496G>A MANE Select	NP_000193.1:p.Glu166Lys
NM_001166550.4:c.226G>A	NP_001160022.1:p.Glu76Lys
NM_006123.5:c.496G>A	NP_006114.1:p.Glu166Lys
NR_104128.2:n.665G>A