Canonical Allele Identifier: CA519057522

Gene: IDS

Linked Data

• dbSNP Id: rs530501
• MyVariant Identifiers: chrX:g.148567451C>A (hg19) ; chrX:g.149485920C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149485920C>A , CM000685.2:g.149485920C>A	GRCh38
NC_000023.10:g.148567451C>A , CM000685.1:g.148567451C>A	GRCh37
NG_011900.3:g.24415G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000340855.11:c.1180+1005G>T MANE Select	ENSP00000339801.6:n.1180+1005G>T
ENST00000651111.1:c.547+1005G>T	ENSP00000498395.1:n.547+1005G>T
ENST00000340855.10:c.1180+1005G>T	ENSP00000339801.6:n.1180+1005G>T
ENST00000422081.6:c.547+1005G>T	ENSP00000477056.1:n.547+1005G>T
ENST00000441880.1:n.287+1005G>T
NM_000202.6:c.1180+1005G>T	NP_000193.1:n.1180+1005G>T
NM_001166550.2:c.910+1005G>T	NP_001160022.1:n.910+1005G>T
NM_000202.7:c.1180+1005G>T	NP_000193.1:n.1180+1005G>T
NM_001166550.3:c.910+1005G>T	NP_001160022.1:n.910+1005G>T
NM_000202.8:c.1180+1005G>T MANE Select	NP_000193.1:n.1180+1005G>T
NM_001166550.4:c.910+1005G>T	NP_001160022.1:n.910+1005G>T