Canonical Allele Identifier: CA414522517

Gene: IDS

Linked Data

• MyVariant Identifiers: chrX:g.148579799G>T (hg19) ; chrX:g.149498268G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149498268G>T , CM000685.2:g.149498268G>T	GRCh38
NC_000023.10:g.148579799G>T , CM000685.1:g.148579799G>T	GRCh37
NC_000023.9:g.148387704G>T	NCBI36
NG_011900.3:g.12067C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.547C>A MANE Select	ENSP00000339801.6:p.Leu183Ile
ENST00000651111.1:c.-87C>A	ENSP00000498395.1:n.-87C>A
ENST00000340855.10:c.547C>A	ENSP00000339801.6:p.Leu183Ile
ENST00000370441.8:c.547C>A	ENSP00000359470.4:p.Leu183Ile
ENST00000422081.6:c.-87C>A	ENSP00000477056.1:n.-87C>A
ENST00000441880.1:n.114-11170C>A
ENST00000464251.5:c.473C>A	ENSP00000428980.1:n.473C>A
ENST00000466323.5:c.547C>A	ENSP00000418264.1:p.Leu183Ile
ENST00000490775.5:n.332C>A
ENST00000523759.5:n.661C>A
NM_000202.6:c.547C>A	NP_000193.1:p.Leu183Ile
NM_001166550.2:c.277C>A	NP_001160022.1:p.Leu93Ile
NM_006123.4:c.547C>A	NP_006114.1:p.Leu183Ile
NR_104128.1:n.764C>A
NM_000202.7:c.547C>A	NP_000193.1:p.Leu183Ile
NM_001166550.3:c.277C>A	NP_001160022.1:p.Leu93Ile
NM_000202.8:c.547C>A MANE Select	NP_000193.1:p.Leu183Ile
NM_001166550.4:c.277C>A	NP_001160022.1:p.Leu93Ile
NM_006123.5:c.547C>A	NP_006114.1:p.Leu183Ile
NR_104128.2:n.716C>A