Canonical Allele Identifier: CA414522488

Gene: IDS

Linked Data

• dbSNP Id: rs1382709231
• MyVariant Identifiers: chrX:g.148579787C>A (hg19) ; chrX:g.149498256C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149498256C>A , CM000685.2:g.149498256C>A	GRCh38
NC_000023.10:g.148579787C>A , CM000685.1:g.148579787C>A	GRCh37
NC_000023.9:g.148387692C>A	NCBI36
NG_011900.3:g.12079G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.559G>T MANE Select	ENSP00000339801.6:p.Asp187Tyr
ENST00000651111.1:c.-75G>T	ENSP00000498395.1:n.-75G>T
ENST00000340855.10:c.559G>T	ENSP00000339801.6:p.Asp187Tyr
ENST00000370441.8:c.559G>T	ENSP00000359470.4:p.Asp187Tyr
ENST00000422081.6:c.-75G>T	ENSP00000477056.1:n.-75G>T
ENST00000441880.1:n.114-11158G>T
ENST00000464251.5:c.485G>T	ENSP00000428980.1:n.485G>T
ENST00000466019.1:n.11G>T
ENST00000466323.5:c.559G>T	ENSP00000418264.1:p.Asp187Tyr
ENST00000490775.5:n.344G>T
ENST00000523759.5:n.673G>T
NM_000202.6:c.559G>T	NP_000193.1:p.Asp187Tyr
NM_001166550.2:c.289G>T	NP_001160022.1:p.Asp97Tyr
NM_006123.4:c.559G>T	NP_006114.1:p.Asp187Tyr
NR_104128.1:n.776G>T
NM_000202.7:c.559G>T	NP_000193.1:p.Asp187Tyr
NM_001166550.3:c.289G>T	NP_001160022.1:p.Asp97Tyr
NM_000202.8:c.559G>T MANE Select	NP_000193.1:p.Asp187Tyr
NM_001166550.4:c.289G>T	NP_001160022.1:p.Asp97Tyr
NM_006123.5:c.559G>T	NP_006114.1:p.Asp187Tyr
NR_104128.2:n.728G>T