Canonical Allele Identifier: CA414518392

Gene: IDS

Linked Data

• ClinVar Variation Id: 1803773
• ClinVar RCV Id: RCV002467471
• MyVariant Identifiers: chrX:g.148564630C>T (hg19) ; chrX:g.149483099C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149483099C>T , CM000685.2:g.149483099C>T	GRCh38
NC_000023.10:g.148564630C>T , CM000685.1:g.148564630C>T	GRCh37
NC_000023.9:g.148372535C>T	NCBI36
NG_011900.3:g.27236G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.1300G>A MANE Select	ENSP00000339801.6:p.Glu434Lys
ENST00000651111.1:c.667G>A	ENSP00000498395.1:p.Glu223Lys
ENST00000340855.10:c.1300G>A	ENSP00000339801.6:p.Glu434Lys
ENST00000422081.6:c.667G>A	ENSP00000477056.1:p.Glu223Lys
ENST00000441880.1:n.407G>A
NM_000202.6:c.1300G>A	NP_000193.1:p.Glu434Lys
NM_001166550.2:c.1030G>A	NP_001160022.1:p.Glu344Lys
NM_000202.7:c.1300G>A	NP_000193.1:p.Glu434Lys
NM_001166550.3:c.1030G>A	NP_001160022.1:p.Glu344Lys
NM_000202.8:c.1300G>A MANE Select	NP_000193.1:p.Glu434Lys
NM_001166550.4:c.1030G>A	NP_001160022.1:p.Glu344Lys