Canonical Allele Identifier: CA414522411

Gene: IDS

Linked Data

• MyVariant Identifiers: chrX:g.148579750T>A (hg19) ; chrX:g.149498219T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149498219T>A , CM000685.2:g.149498219T>A	GRCh38
NC_000023.10:g.148579750T>A , CM000685.1:g.148579750T>A	GRCh37
NC_000023.9:g.148387655T>A	NCBI36
NG_011900.3:g.12116A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.596A>T MANE Select	ENSP00000339801.6:p.Lys199Ile
ENST00000651111.1:c.-38A>T	ENSP00000498395.1:n.-38A>T
ENST00000340855.10:c.596A>T	ENSP00000339801.6:p.Lys199Ile
ENST00000370441.8:c.596A>T	ENSP00000359470.4:p.Lys199Ile
ENST00000422081.6:c.-38A>T	ENSP00000477056.1:n.-38A>T
ENST00000441880.1:n.114-11121A>T
ENST00000464251.5:c.522A>T	ENSP00000428980.1:n.522A>T
ENST00000466019.1:n.48A>T
ENST00000466323.5:c.596A>T	ENSP00000418264.1:p.Lys199Ile
ENST00000490775.5:n.381A>T
ENST00000523759.5:n.710A>T
NM_000202.6:c.596A>T	NP_000193.1:p.Lys199Ile
NM_001166550.2:c.326A>T	NP_001160022.1:p.Lys109Ile
NM_006123.4:c.596A>T	NP_006114.1:p.Lys199Ile
NR_104128.1:n.813A>T
NM_000202.7:c.596A>T	NP_000193.1:p.Lys199Ile
NM_001166550.3:c.326A>T	NP_001160022.1:p.Lys109Ile
NM_000202.8:c.596A>T MANE Select	NP_000193.1:p.Lys199Ile
NM_001166550.4:c.326A>T	NP_001160022.1:p.Lys109Ile
NM_006123.5:c.596A>T	NP_006114.1:p.Lys199Ile
NR_104128.2:n.765A>T