Canonical Allele Identifier: CA414519044

Gene: IDS

Linked Data

• ClinVar Variation Id: 2737383
• ClinVar RCV Id: RCV003509084
• MyVariant Identifiers: chrX:g.148568629C>T (hg19) ; chrX:g.149487098C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149487098C>T , CM000685.2:g.149487098C>T	GRCh38
NC_000023.10:g.148568629C>T , CM000685.1:g.148568629C>T	GRCh37
NC_000023.9:g.148376534C>T	NCBI36
NG_011900.3:g.23237G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.1007G>A MANE Select	ENSP00000339801.6:p.Gly336Glu
ENST00000651111.1:c.374G>A	ENSP00000498395.1:p.Gly125Glu
ENST00000340855.10:c.1007G>A	ENSP00000339801.6:p.Gly336Glu
ENST00000422081.6:c.374G>A	ENSP00000477056.1:p.Gly125Glu
ENST00000441880.1:n.114G>A
NM_000202.6:c.1007G>A	NP_000193.1:p.Gly336Glu
NM_001166550.2:c.737G>A	NP_001160022.1:p.Gly246Glu
NM_000202.7:c.1007G>A	NP_000193.1:p.Gly336Glu
NM_001166550.3:c.737G>A	NP_001160022.1:p.Gly246Glu
NM_000202.8:c.1007G>A MANE Select	NP_000193.1:p.Gly336Glu
NM_001166550.4:c.737G>A	NP_001160022.1:p.Gly246Glu