Canonical Allele Identifier: CA519057689

Gene: IDS

Linked Data

• MyVariant Identifiers: chrX:g.148571882C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149490351C>A , CM000685.2:g.149490351C>A	GRCh38
NC_000023.10:g.148571882C>A , CM000685.1:g.148571882C>A	GRCh37
NC_000023.9:g.148379787C>A	NCBI36
NG_011900.3:g.19984G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.969G>T MANE Select	ENSP00000339801.6:p.Leu323=
ENST00000651111.1:c.336G>T	ENSP00000498395.1:p.Leu112=
ENST00000340855.10:c.969G>T	ENSP00000339801.6:p.Leu323=
ENST00000370441.8:c.969G>T	ENSP00000359470.4:p.Leu323=
ENST00000422081.6:c.336G>T	ENSP00000477056.1:p.Leu112=
ENST00000441880.1:n.114-3253G>T
ENST00000464251.5:c.895G>T	ENSP00000428980.1:n.895G>T
ENST00000466323.5:c.*160G>T	ENSP00000418264.1:n.*160G>T
ENST00000490775.5:n.754G>T
NM_000202.6:c.969G>T	NP_000193.1:p.Leu323=
NM_001166550.2:c.699G>T	NP_001160022.1:p.Leu233=
NM_006123.4:c.969G>T	NP_006114.1:p.Leu323=
NR_104128.1:n.1316G>T
NM_000202.7:c.969G>T	NP_000193.1:p.Leu323=
NM_001166550.3:c.699G>T	NP_001160022.1:p.Leu233=
NM_000202.8:c.969G>T MANE Select	NP_000193.1:p.Leu323=
NM_001166550.4:c.699G>T	NP_001160022.1:p.Leu233=
NM_006123.5:c.969G>T	NP_006114.1:p.Leu323=
NR_104128.2:n.1268G>T