Canonical Allele Identifier: CA414518309

Gene: IDS

Linked Data

• COSMIC: COSM5439652
• MyVariant Identifiers: chrX:g.148564594C>A (hg19) ; chrX:g.149483063C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149483063C>A , CM000685.2:g.149483063C>A	GRCh38
NC_000023.10:g.148564594C>A , CM000685.1:g.148564594C>A	GRCh37
NC_000023.9:g.148372499C>A	NCBI36
NG_011900.3:g.27272G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.1336G>T MANE Select	ENSP00000339801.6:p.Asp446Tyr
ENST00000651111.1:c.703G>T	ENSP00000498395.1:p.Asp235Tyr
ENST00000340855.10:c.1336G>T	ENSP00000339801.6:p.Asp446Tyr
ENST00000422081.6:c.703G>T	ENSP00000477056.1:p.Asp235Tyr
NM_000202.6:c.1336G>T	NP_000193.1:p.Asp446Tyr
NM_001166550.2:c.1066G>T	NP_001160022.1:p.Asp356Tyr
NM_000202.7:c.1336G>T	NP_000193.1:p.Asp446Tyr
NM_001166550.3:c.1066G>T	NP_001160022.1:p.Asp356Tyr
NM_000202.8:c.1336G>T MANE Select	NP_000193.1:p.Asp446Tyr
NM_001166550.4:c.1066G>T	NP_001160022.1:p.Asp356Tyr