Canonical Allele Identifier: CA414522399

Gene: IDS

Linked Data

• MyVariant Identifiers: chrX:g.148579746C>A (hg19) ; chrX:g.149498215C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149498215C>A , CM000685.2:g.149498215C>A	GRCh38
NC_000023.10:g.148579746C>A , CM000685.1:g.148579746C>A	GRCh37
NC_000023.9:g.148387651C>A	NCBI36
NG_011900.3:g.12120G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.600G>T MANE Select	ENSP00000339801.6:p.Gln200His
ENST00000651111.1:c.-34G>T	ENSP00000498395.1:n.-34G>T
ENST00000340855.10:c.600G>T	ENSP00000339801.6:p.Gln200His
ENST00000370441.8:c.600G>T	ENSP00000359470.4:p.Gln200His
ENST00000422081.6:c.-34G>T	ENSP00000477056.1:n.-34G>T
ENST00000441880.1:n.114-11117G>T
ENST00000464251.5:c.526G>T	ENSP00000428980.1:n.526G>T
ENST00000466019.1:n.52G>T
ENST00000466323.5:c.600G>T	ENSP00000418264.1:p.Gln200His
ENST00000490775.5:n.385G>T
ENST00000523759.5:n.714G>T
NM_000202.6:c.600G>T	NP_000193.1:p.Gln200His
NM_001166550.2:c.330G>T	NP_001160022.1:p.Gln110His
NM_006123.4:c.600G>T	NP_006114.1:p.Gln200His
NR_104128.1:n.817G>T
NM_000202.7:c.600G>T	NP_000193.1:p.Gln200His
NM_001166550.3:c.330G>T	NP_001160022.1:p.Gln110His
NM_000202.8:c.600G>T MANE Select	NP_000193.1:p.Gln200His
NM_001166550.4:c.330G>T	NP_001160022.1:p.Gln110His
NM_006123.5:c.600G>T	NP_006114.1:p.Gln200His
NR_104128.2:n.769G>T