Canonical Allele Identifier: CA414522417

Gene: IDS

Linked Data

• MyVariant Identifiers: chrX:g.148579753T>A (hg19) ; chrX:g.149498222T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149498222T>A , CM000685.2:g.149498222T>A	GRCh38
NC_000023.10:g.148579753T>A , CM000685.1:g.148579753T>A	GRCh37
NC_000023.9:g.148387658T>A	NCBI36
NG_011900.3:g.12113A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.593A>T MANE Select	ENSP00000339801.6:p.Asp198Val
ENST00000651111.1:c.-41A>T	ENSP00000498395.1:n.-41A>T
ENST00000340855.10:c.593A>T	ENSP00000339801.6:p.Asp198Val
ENST00000370441.8:c.593A>T	ENSP00000359470.4:p.Asp198Val
ENST00000422081.6:c.-41A>T	ENSP00000477056.1:n.-41A>T
ENST00000441880.1:n.114-11124A>T
ENST00000464251.5:c.519A>T	ENSP00000428980.1:n.519A>T
ENST00000466019.1:n.45A>T
ENST00000466323.5:c.593A>T	ENSP00000418264.1:p.Asp198Val
ENST00000490775.5:n.378A>T
ENST00000523759.5:n.707A>T
NM_000202.6:c.593A>T	NP_000193.1:p.Asp198Val
NM_001166550.2:c.323A>T	NP_001160022.1:p.Asp108Val
NM_006123.4:c.593A>T	NP_006114.1:p.Asp198Val
NR_104128.1:n.810A>T
NM_000202.7:c.593A>T	NP_000193.1:p.Asp198Val
NM_001166550.3:c.323A>T	NP_001160022.1:p.Asp108Val
NM_000202.8:c.593A>T MANE Select	NP_000193.1:p.Asp198Val
NM_001166550.4:c.323A>T	NP_001160022.1:p.Asp108Val
NM_006123.5:c.593A>T	NP_006114.1:p.Asp198Val
NR_104128.2:n.762A>T