Canonical Allele Identifier: CA414526852

Gene: IDS

Linked Data

• MyVariant Identifiers: chrX:g.148584997C>A (hg19) ; chrX:g.149503467C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149503467C>A , CM000685.2:g.149503467C>A	GRCh38
NC_000023.10:g.148584997C>A , CM000685.1:g.148584997C>A	GRCh37
NC_000023.9:g.148392902C>A	NCBI36
NG_011900.3:g.6868G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.263G>T MANE Select	ENSP00000339801.6:p.Arg88Leu
ENST00000651111.1:c.-215-2430G>T	ENSP00000498395.1:n.-215-2430G>T
ENST00000340855.10:c.263G>T	ENSP00000339801.6:p.Arg88Leu
ENST00000370441.8:c.263G>T	ENSP00000359470.4:p.Arg88Leu
ENST00000422081.6:c.-215-2430G>T	ENSP00000477056.1:n.-215-2430G>T
ENST00000427113.2:n.770-1244G>T
ENST00000428056.6:c.263G>T	ENSP00000390241.2:p.Arg88Leu
ENST00000441880.1:n.114-16369G>T
ENST00000464251.5:c.86G>T	ENSP00000428980.1:p.Arg29Leu
ENST00000466323.5:c.263G>T	ENSP00000418264.1:p.Arg88Leu
ENST00000523759.5:n.533-2430G>T
NM_000202.6:c.263G>T	NP_000193.1:p.Arg88Leu
NM_001166550.2:c.15-22G>T	NP_001160022.1:n.15-22G>T
NM_006123.4:c.263G>T	NP_006114.1:p.Arg88Leu
NR_104128.1:n.480G>T
NM_000202.7:c.263G>T	NP_000193.1:p.Arg88Leu
NM_001166550.3:c.15-22G>T	NP_001160022.1:n.15-22G>T
NM_000202.8:c.263G>T MANE Select	NP_000193.1:p.Arg88Leu
NM_001166550.4:c.15-22G>T	NP_001160022.1:n.15-22G>T
NM_006123.5:c.263G>T	NP_006114.1:p.Arg88Leu
NR_104128.2:n.432G>T