Canonical Allele Identifier: CA2465005664

Gene: IDS

Linked Data

• dbSNP Id: rs2089345008
• gnomAD v4: X-149487222-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149487222A>G , CM000685.2:g.149487222A>G	GRCh38
NC_000023.10:g.148568753A>G , CM000685.1:g.148568753A>G	GRCh37
NC_000023.9:g.148376658A>G	NCBI36
NG_011900.3:g.23113T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.1007-124T>C MANE Select	ENSP00000339801.6:n.1007-124T>C
ENST00000651111.1:c.374-124T>C	ENSP00000498395.1:n.374-124T>C
ENST00000340855.10:c.1007-124T>C	ENSP00000339801.6:n.1007-124T>C
ENST00000370441.8:c.*66T>C	ENSP00000359470.4:n.*66T>C
ENST00000422081.6:c.374-124T>C	ENSP00000477056.1:n.374-124T>C
ENST00000441880.1:n.114-124T>C
ENST00000466323.5:c.*289T>C	ENSP00000418264.1:n.*289T>C
ENST00000490775.5:n.883T>C
NM_000202.6:c.1007-124T>C	NP_000193.1:n.1007-124T>C
NM_001166550.2:c.737-124T>C	NP_001160022.1:n.737-124T>C
NM_006123.4:c.*66T>C	NP_006114.1:n.*66T>C
NR_104128.1:n.1445T>C
NM_000202.7:c.1007-124T>C	NP_000193.1:n.1007-124T>C
NM_001166550.3:c.737-124T>C	NP_001160022.1:n.737-124T>C
NM_000202.8:c.1007-124T>C MANE Select	NP_000193.1:n.1007-124T>C
NM_001166550.4:c.737-124T>C	NP_001160022.1:n.737-124T>C
NM_006123.5:c.*66T>C	NP_006114.1:n.*66T>C
NR_104128.2:n.1397T>C