Canonical Allele Identifier: CA414519998

Gene: IDS

Linked Data

• MyVariant Identifiers: chrX:g.148571876G>T (hg19) ; chrX:g.149490345G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149490345G>T , CM000685.2:g.149490345G>T	GRCh38
NC_000023.10:g.148571876G>T , CM000685.1:g.148571876G>T	GRCh37
NC_000023.9:g.148379781G>T	NCBI36
NG_011900.3:g.19990C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.975C>A MANE Select	ENSP00000339801.6:p.Asn325Lys
ENST00000651111.1:c.342C>A	ENSP00000498395.1:p.Asn114Lys
ENST00000340855.10:c.975C>A	ENSP00000339801.6:p.Asn325Lys
ENST00000370441.8:c.975C>A	ENSP00000359470.4:p.Asn325Lys
ENST00000422081.6:c.342C>A	ENSP00000477056.1:p.Asn114Lys
ENST00000441880.1:n.114-3247C>A
ENST00000464251.5:c.901C>A	ENSP00000428980.1:n.901C>A
ENST00000466323.5:c.*166C>A	ENSP00000418264.1:n.*166C>A
ENST00000490775.5:n.760C>A
NM_000202.6:c.975C>A	NP_000193.1:p.Asn325Lys
NM_001166550.2:c.705C>A	NP_001160022.1:p.Asn235Lys
NM_006123.4:c.975C>A	NP_006114.1:p.Asn325Lys
NR_104128.1:n.1322C>A
NM_000202.7:c.975C>A	NP_000193.1:p.Asn325Lys
NM_001166550.3:c.705C>A	NP_001160022.1:p.Asn235Lys
NM_000202.8:c.975C>A MANE Select	NP_000193.1:p.Asn325Lys
NM_001166550.4:c.705C>A	NP_001160022.1:p.Asn235Lys
NM_006123.5:c.975C>A	NP_006114.1:p.Asn325Lys
NR_104128.2:n.1274C>A