Canonical Allele Identifier: CA519058382

Gene: IDS

Linked Data

• dbSNP Id: rs1557339542
• gnomAD v2: X-148579764-G-A
• gnomAD v4: X-149498233-G-A
• MyVariant Identifiers: chrX:g.148579764G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149498233G>A , CM000685.2:g.149498233G>A	GRCh38
NC_000023.10:g.148579764G>A , CM000685.1:g.148579764G>A	GRCh37
NC_000023.9:g.148387669G>A	NCBI36
NG_011900.3:g.12102C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.582C>T MANE Select	ENSP00000339801.6:p.Gly194=
ENST00000651111.1:c.-52C>T	ENSP00000498395.1:n.-52C>T
ENST00000340855.10:c.582C>T	ENSP00000339801.6:p.Gly194=
ENST00000370441.8:c.582C>T	ENSP00000359470.4:p.Gly194=
ENST00000422081.6:c.-52C>T	ENSP00000477056.1:n.-52C>T
ENST00000441880.1:n.114-11135C>T
ENST00000464251.5:c.508C>T	ENSP00000428980.1:n.508C>T
ENST00000466019.1:n.34C>T
ENST00000466323.5:c.582C>T	ENSP00000418264.1:p.Gly194=
ENST00000490775.5:n.367C>T
ENST00000523759.5:n.696C>T
NM_000202.6:c.582C>T	NP_000193.1:p.Gly194=
NM_001166550.2:c.312C>T	NP_001160022.1:p.Gly104=
NM_006123.4:c.582C>T	NP_006114.1:p.Gly194=
NR_104128.1:n.799C>T
NM_000202.7:c.582C>T	NP_000193.1:p.Gly194=
NM_001166550.3:c.312C>T	NP_001160022.1:p.Gly104=
NM_000202.8:c.582C>T MANE Select	NP_000193.1:p.Gly194=
NM_001166550.4:c.312C>T	NP_001160022.1:p.Gly104=
NM_006123.5:c.582C>T	NP_006114.1:p.Gly194=
NR_104128.2:n.751C>T