Canonical Allele Identifier: CA414517971

Gene: IDS

Linked Data

• dbSNP Id: rs1557337595
• gnomAD v2: X-148564437-C-G
• gnomAD v4: X-149482906-C-G
• MyVariant Identifiers: chrX:g.148564437C>G (hg19) ; chrX:g.149482906C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149482906C>G , CM000685.2:g.149482906C>G	GRCh38
NC_000023.10:g.148564437C>G , CM000685.1:g.148564437C>G	GRCh37
NC_000023.9:g.148372342C>G	NCBI36
NG_011900.3:g.27429G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000340855.11:c.1493G>C MANE Select	ENSP00000339801.6:p.Arg498Thr
ENST00000651111.1:c.860G>C	ENSP00000498395.1:p.Arg287Thr
ENST00000340855.10:c.1493G>C	ENSP00000339801.6:p.Arg498Thr
ENST00000422081.6:c.860G>C	ENSP00000477056.1:p.Arg287Thr
NM_000202.6:c.1493G>C	NP_000193.1:p.Arg498Thr
NM_001166550.2:c.1223G>C	NP_001160022.1:p.Arg408Thr
NM_000202.7:c.1493G>C	NP_000193.1:p.Arg498Thr
NM_001166550.3:c.1223G>C	NP_001160022.1:p.Arg408Thr
NM_000202.8:c.1493G>C MANE Select	NP_000193.1:p.Arg498Thr
NM_001166550.4:c.1223G>C	NP_001160022.1:p.Arg408Thr