Canonical Allele Identifier: CA414518431

Gene: IDS

Linked Data

• MyVariant Identifiers: chrX:g.148564648G>A (hg19) ; chrX:g.149483117G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149483117G>A , CM000685.2:g.149483117G>A	GRCh38
NC_000023.10:g.148564648G>A , CM000685.1:g.148564648G>A	GRCh37
NC_000023.9:g.148372553G>A	NCBI36
NG_011900.3:g.27218C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.1282C>T MANE Select	ENSP00000339801.6:p.His428Tyr
ENST00000651111.1:c.649C>T	ENSP00000498395.1:p.His217Tyr
ENST00000340855.10:c.1282C>T	ENSP00000339801.6:p.His428Tyr
ENST00000422081.6:c.649C>T	ENSP00000477056.1:p.His217Tyr
ENST00000441880.1:n.389C>T
NM_000202.6:c.1282C>T	NP_000193.1:p.His428Tyr
NM_001166550.2:c.1012C>T	NP_001160022.1:p.His338Tyr
NM_000202.7:c.1282C>T	NP_000193.1:p.His428Tyr
NM_001166550.3:c.1012C>T	NP_001160022.1:p.His338Tyr
NM_000202.8:c.1282C>T MANE Select	NP_000193.1:p.His428Tyr
NM_001166550.4:c.1012C>T	NP_001160022.1:p.His338Tyr