Canonical Allele Identifier: CA414518169

Gene: IDS

Linked Data

• dbSNP Id: rs2089305573
• MyVariant Identifiers: chrX:g.148564525G>C (hg19) ; chrX:g.149482994G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149482994G>C , CM000685.2:g.149482994G>C	GRCh38
NC_000023.10:g.148564525G>C , CM000685.1:g.148564525G>C	GRCh37
NC_000023.9:g.148372430G>C	NCBI36
NG_011900.3:g.27341C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.1405C>G MANE Select	ENSP00000339801.6:p.Pro469Ala
ENST00000651111.1:c.772C>G	ENSP00000498395.1:p.Pro258Ala
ENST00000340855.10:c.1405C>G	ENSP00000339801.6:p.Pro469Ala
ENST00000422081.6:c.772C>G	ENSP00000477056.1:p.Pro258Ala
NM_000202.6:c.1405C>G	NP_000193.1:p.Pro469Ala
NM_001166550.2:c.1135C>G	NP_001160022.1:p.Pro379Ala
NM_000202.7:c.1405C>G	NP_000193.1:p.Pro469Ala
NM_001166550.3:c.1135C>G	NP_001160022.1:p.Pro379Ala
NM_000202.8:c.1405C>G MANE Select	NP_000193.1:p.Pro469Ala
NM_001166550.4:c.1135C>G	NP_001160022.1:p.Pro379Ala