Canonical Allele Identifier: CA10537486

Gene: IDS

Linked Data

• dbSNP Id: rs782328976
• ExAC: X:148568463 C / T
• gnomAD v2: X-148568463-C-T
• gnomAD v4: X-149486932-C-T
• MyVariant Identifiers: chrX:g.148568463C>T (hg19) ; chrX:g.149486932C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149486932C>T , CM000685.2:g.149486932C>T	GRCh38
NC_000023.10:g.148568463C>T , CM000685.1:g.148568463C>T	GRCh37
NC_000023.9:g.148376368C>T	NCBI36
NG_011900.3:g.23403G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.1173G>A MANE Select	ENSP00000339801.6:p.Met391Ile
ENST00000651111.1:c.540G>A	ENSP00000498395.1:p.Met180Ile
ENST00000340855.10:c.1173G>A	ENSP00000339801.6:p.Met391Ile
ENST00000422081.6:c.540G>A	ENSP00000477056.1:p.Met180Ile
ENST00000441880.1:n.280G>A
NM_000202.6:c.1173G>A	NP_000193.1:p.Met391Ile
NM_001166550.2:c.903G>A	NP_001160022.1:p.Met301Ile
NM_000202.7:c.1173G>A	NP_000193.1:p.Met391Ile
NM_001166550.3:c.903G>A	NP_001160022.1:p.Met301Ile
NM_000202.8:c.1173G>A MANE Select	NP_000193.1:p.Met391Ile
NM_001166550.4:c.903G>A	NP_001160022.1:p.Met301Ile