Canonical Allele Identifier: CA414523170

Gene: IDS

Linked Data

• dbSNP Id: rs2089475405
• gnomAD v3: X-149501004-T-A
• gnomAD v4: X-149501004-T-A
• MyVariant Identifiers: chrX:g.148582535T>A (hg19) ; chrX:g.149501004T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149501004T>A , CM000685.2:g.149501004T>A	GRCh38
NC_000023.10:g.148582535T>A , CM000685.1:g.148582535T>A	GRCh37
NC_000023.9:g.148390440T>A	NCBI36
NG_011900.3:g.9331A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.452A>T MANE Select	ENSP00000339801.6:p.Tyr151Phe
ENST00000651111.1:c.-182A>T	ENSP00000498395.1:n.-182A>T
ENST00000340855.10:c.452A>T	ENSP00000339801.6:p.Tyr151Phe
ENST00000370441.8:c.452A>T	ENSP00000359470.4:p.Tyr151Phe
ENST00000422081.6:c.-182A>T	ENSP00000477056.1:n.-182A>T
ENST00000441880.1:n.114-13906A>T
ENST00000464251.5:c.378A>T	ENSP00000428980.1:n.378A>T
ENST00000466323.5:c.452A>T	ENSP00000418264.1:p.Tyr151Phe
ENST00000490775.5:n.111A>T
ENST00000523759.5:n.566A>T
NM_000202.6:c.452A>T	NP_000193.1:p.Tyr151Phe
NM_001166550.2:c.182A>T	NP_001160022.1:p.Tyr61Phe
NM_006123.4:c.452A>T	NP_006114.1:p.Tyr151Phe
NR_104128.1:n.669A>T
NM_000202.7:c.452A>T	NP_000193.1:p.Tyr151Phe
NM_001166550.3:c.182A>T	NP_001160022.1:p.Tyr61Phe
NM_000202.8:c.452A>T MANE Select	NP_000193.1:p.Tyr151Phe
NM_001166550.4:c.182A>T	NP_001160022.1:p.Tyr61Phe
NM_006123.5:c.452A>T	NP_006114.1:p.Tyr151Phe
NR_104128.2:n.621A>T