Canonical Allele Identifier: CA414518055

Gene: IDS

Linked Data

• ClinVar Variation Id: 997093
• ClinVar RCV Id: RCV001568383
• dbSNP Id: rs782430567
• MyVariant Identifiers: chrX:g.148564476A>T (hg19) ; chrX:g.149482945A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149482945A>T , CM000685.2:g.149482945A>T	GRCh38
NC_000023.10:g.148564476A>T , CM000685.1:g.148564476A>T	GRCh37
NC_000023.9:g.148372381A>T	NCBI36
NG_011900.3:g.27390T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.1454T>A MANE Select	ENSP00000339801.6:p.Ile485Lys
ENST00000651111.1:c.821T>A	ENSP00000498395.1:p.Ile274Lys
ENST00000340855.10:c.1454T>A	ENSP00000339801.6:p.Ile485Lys
ENST00000422081.6:c.821T>A	ENSP00000477056.1:p.Ile274Lys
NM_000202.6:c.1454T>A	NP_000193.1:p.Ile485Lys
NM_001166550.2:c.1184T>A	NP_001160022.1:p.Ile395Lys
NM_000202.7:c.1454T>A	NP_000193.1:p.Ile485Lys
NM_001166550.3:c.1184T>A	NP_001160022.1:p.Ile395Lys
NM_000202.8:c.1454T>A MANE Select	NP_000193.1:p.Ile485Lys
NM_001166550.4:c.1184T>A	NP_001160022.1:p.Ile395Lys