Canonical Allele Identifier: CA10537444

Gene: IDS

Linked Data

• dbSNP Id: rs782022550
• ExAC: X:148564486 A / T
• gnomAD v2: X-148564486-A-T
• gnomAD v4: X-149482955-A-T
• MyVariant Identifiers: chrX:g.148564486A>T (hg19) ; chrX:g.149482955A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149482955A>T , CM000685.2:g.149482955A>T	GRCh38
NC_000023.10:g.148564486A>T , CM000685.1:g.148564486A>T	GRCh37
NC_000023.9:g.148372391A>T	NCBI36
NG_011900.3:g.27380T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.1444T>A MANE Select	ENSP00000339801.6:p.Leu482Ile
ENST00000651111.1:c.811T>A	ENSP00000498395.1:p.Leu271Ile
ENST00000340855.10:c.1444T>A	ENSP00000339801.6:p.Leu482Ile
ENST00000422081.6:c.811T>A	ENSP00000477056.1:p.Leu271Ile
NM_000202.6:c.1444T>A	NP_000193.1:p.Leu482Ile
NM_001166550.2:c.1174T>A	NP_001160022.1:p.Leu392Ile
NM_000202.7:c.1444T>A	NP_000193.1:p.Leu482Ile
NM_001166550.3:c.1174T>A	NP_001160022.1:p.Leu392Ile
NM_000202.8:c.1444T>A MANE Select	NP_000193.1:p.Leu482Ile
NM_001166550.4:c.1174T>A	NP_001160022.1:p.Leu392Ile