Canonical Allele Identifier: CA414518981

Gene: IDS

Linked Data

• COSMIC: COSM320916
• MyVariant Identifiers: chrX:g.148568602C>A (hg19) ; chrX:g.149487071C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149487071C>A , CM000685.2:g.149487071C>A	GRCh38
NC_000023.10:g.148568602C>A , CM000685.1:g.148568602C>A	GRCh37
NC_000023.9:g.148376507C>A	NCBI36
NG_011900.3:g.23264G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.1034G>T MANE Select	ENSP00000339801.6:p.Trp345Leu
ENST00000651111.1:c.401G>T	ENSP00000498395.1:p.Trp134Leu
ENST00000340855.10:c.1034G>T	ENSP00000339801.6:p.Trp345Leu
ENST00000422081.6:c.401G>T	ENSP00000477056.1:p.Trp134Leu
ENST00000441880.1:n.141G>T
NM_000202.6:c.1034G>T	NP_000193.1:p.Trp345Leu
NM_001166550.2:c.764G>T	NP_001160022.1:p.Trp255Leu
NM_000202.7:c.1034G>T	NP_000193.1:p.Trp345Leu
NM_001166550.3:c.764G>T	NP_001160022.1:p.Trp255Leu
NM_000202.8:c.1034G>T MANE Select	NP_000193.1:p.Trp345Leu
NM_001166550.4:c.764G>T	NP_001160022.1:p.Trp255Leu