Canonical Allele Identifier: CA2573159290

Gene: IDS

Linked Data

• ClinVar Variation Id: 1619647
• ClinVar RCV Id: RCV002089004
• dbSNP Id: rs2124006523
• gnomAD v4: X-149487118-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149487118G>A , CM000685.2:g.149487118G>A	GRCh38
NC_000023.10:g.148568649G>A , CM000685.1:g.148568649G>A	GRCh37
NC_000023.9:g.148376554G>A	NCBI36
NG_011900.3:g.23217C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.1007-20C>T MANE Select	ENSP00000339801.6:n.1007-20C>T
ENST00000651111.1:c.374-20C>T	ENSP00000498395.1:n.374-20C>T
ENST00000340855.10:c.1007-20C>T	ENSP00000339801.6:n.1007-20C>T
ENST00000422081.6:c.374-20C>T	ENSP00000477056.1:n.374-20C>T
ENST00000441880.1:n.114-20C>T
NM_000202.6:c.1007-20C>T	NP_000193.1:n.1007-20C>T
NM_001166550.2:c.737-20C>T	NP_001160022.1:n.737-20C>T
NM_000202.7:c.1007-20C>T	NP_000193.1:n.1007-20C>T
NM_001166550.3:c.737-20C>T	NP_001160022.1:n.737-20C>T
NM_000202.8:c.1007-20C>T MANE Select	NP_000193.1:n.1007-20C>T
NM_001166550.4:c.737-20C>T	NP_001160022.1:n.737-20C>T