Canonical Allele Identifier: CA1138319276

Gene: IDS

Linked Data

• dbSNP Id: rs1774096448
• gnomAD v3: X-149486712-G-A
• gnomAD v4: X-149486712-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149486712G>A , CM000685.2:g.149486712G>A	GRCh38
NC_000023.10:g.148568243G>A , CM000685.1:g.148568243G>A	GRCh37
NC_000023.9:g.148376148G>A	NCBI36
NG_011900.3:g.23623C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.1180+213C>T MANE Select	ENSP00000339801.6:n.1180+213C>T
ENST00000651111.1:c.547+213C>T	ENSP00000498395.1:n.547+213C>T
ENST00000340855.10:c.1180+213C>T	ENSP00000339801.6:n.1180+213C>T
ENST00000422081.6:c.547+213C>T	ENSP00000477056.1:n.547+213C>T
ENST00000441880.1:n.287+213C>T
NM_000202.6:c.1180+213C>T	NP_000193.1:n.1180+213C>T
NM_001166550.2:c.910+213C>T	NP_001160022.1:n.910+213C>T
NM_000202.7:c.1180+213C>T	NP_000193.1:n.1180+213C>T
NM_001166550.3:c.910+213C>T	NP_001160022.1:n.910+213C>T
NM_000202.8:c.1180+213C>T MANE Select	NP_000193.1:n.1180+213C>T
NM_001166550.4:c.910+213C>T	NP_001160022.1:n.910+213C>T