Canonical Allele Identifier: CA414518639

Gene: IDS

Linked Data

• gnomAD v4: X-149483218-C-T
• MyVariant Identifiers: chrX:g.148564749C>T (hg19) ; chrX:g.149483218C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149483218C>T , CM000685.2:g.149483218C>T	GRCh38
NC_000023.10:g.148564749C>T , CM000685.1:g.148564749C>T	GRCh37
NC_000023.9:g.148372654C>T	NCBI36
NG_011900.3:g.27117G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.1181G>A MANE Select	ENSP00000339801.6:p.Gly394Asp
ENST00000651111.1:c.548G>A	ENSP00000498395.1:p.Gly183Asp
ENST00000340855.10:c.1181G>A	ENSP00000339801.6:p.Gly394Asp
ENST00000422081.6:c.548G>A	ENSP00000477056.1:p.Gly183Asp
ENST00000441880.1:n.288G>A
NM_000202.6:c.1181G>A	NP_000193.1:p.Gly394Asp
NM_001166550.2:c.911G>A	NP_001160022.1:p.Gly304Asp
NM_000202.7:c.1181G>A	NP_000193.1:p.Gly394Asp
NM_001166550.3:c.911G>A	NP_001160022.1:p.Gly304Asp
NM_000202.8:c.1181G>A MANE Select	NP_000193.1:p.Gly394Asp
NM_001166550.4:c.911G>A	NP_001160022.1:p.Gly304Asp