Canonical Allele Identifier: CA414522554

Gene: IDS

Linked Data

• MyVariant Identifiers: chrX:g.148579816T>A (hg19) ; chrX:g.149498285T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149498285T>A , CM000685.2:g.149498285T>A	GRCh38
NC_000023.10:g.148579816T>A , CM000685.1:g.148579816T>A	GRCh37
NC_000023.9:g.148387721T>A	NCBI36
NG_011900.3:g.12050A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.530A>T MANE Select	ENSP00000339801.6:p.Glu177Val
ENST00000651111.1:c.-104A>T	ENSP00000498395.1:n.-104A>T
ENST00000340855.10:c.530A>T	ENSP00000339801.6:p.Glu177Val
ENST00000370441.8:c.530A>T	ENSP00000359470.4:p.Glu177Val
ENST00000422081.6:c.-104A>T	ENSP00000477056.1:n.-104A>T
ENST00000441880.1:n.114-11187A>T
ENST00000464251.5:c.456A>T	ENSP00000428980.1:n.456A>T
ENST00000466323.5:c.530A>T	ENSP00000418264.1:p.Glu177Val
ENST00000490775.5:n.315A>T
ENST00000523759.5:n.644A>T
NM_000202.6:c.530A>T	NP_000193.1:p.Glu177Val
NM_001166550.2:c.260A>T	NP_001160022.1:p.Glu87Val
NM_006123.4:c.530A>T	NP_006114.1:p.Glu177Val
NR_104128.1:n.747A>T
NM_000202.7:c.530A>T	NP_000193.1:p.Glu177Val
NM_001166550.3:c.260A>T	NP_001160022.1:p.Glu87Val
NM_000202.8:c.530A>T MANE Select	NP_000193.1:p.Glu177Val
NM_001166550.4:c.260A>T	NP_001160022.1:p.Glu87Val
NM_006123.5:c.530A>T	NP_006114.1:p.Glu177Val
NR_104128.2:n.699A>T