Canonical Allele Identifier: CA414517656

Gene: IDS

Linked Data

• ClinVar Variation Id: 2917445
• ClinVar RCV Id: RCV003622356
• MyVariant Identifiers: chrX:g.148564300G>T (hg19) ; chrX:g.149482769G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149482769G>T , CM000685.2:g.149482769G>T	GRCh38
NC_000023.10:g.148564300G>T , CM000685.1:g.148564300G>T	GRCh37
NC_000023.9:g.148372205G>T	NCBI36
NG_011900.3:g.27566C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.1630C>A MANE Select	ENSP00000339801.6:p.Leu544Ile
ENST00000651111.1:c.997C>A	ENSP00000498395.1:p.Leu333Ile
ENST00000340855.10:c.1630C>A	ENSP00000339801.6:p.Leu544Ile
ENST00000422081.6:c.997C>A	ENSP00000477056.1:p.Leu333Ile
NM_000202.6:c.1630C>A	NP_000193.1:p.Leu544Ile
NM_001166550.2:c.1360C>A	NP_001160022.1:p.Leu454Ile
NM_000202.7:c.1630C>A	NP_000193.1:p.Leu544Ile
NM_001166550.3:c.1360C>A	NP_001160022.1:p.Leu454Ile
NM_000202.8:c.1630C>A MANE Select	NP_000193.1:p.Leu544Ile
NM_001166550.4:c.1360C>A	NP_001160022.1:p.Leu454Ile