Canonical Allele Identifier: CA2465005668

Gene: IDS

Linked Data

• dbSNP Id: rs2089345118
• gnomAD v4: X-149487235-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149487235C>G , CM000685.2:g.149487235C>G	GRCh38
NC_000023.10:g.148568766C>G , CM000685.1:g.148568766C>G	GRCh37
NC_000023.9:g.148376671C>G	NCBI36
NG_011900.3:g.23100G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.1007-137G>C MANE Select	ENSP00000339801.6:n.1007-137G>C
ENST00000651111.1:c.374-137G>C	ENSP00000498395.1:n.374-137G>C
ENST00000340855.10:c.1007-137G>C	ENSP00000339801.6:n.1007-137G>C
ENST00000370441.8:c.*53G>C	ENSP00000359470.4:n.*53G>C
ENST00000422081.6:c.374-137G>C	ENSP00000477056.1:n.374-137G>C
ENST00000441880.1:n.114-137G>C
ENST00000466323.5:c.*276G>C	ENSP00000418264.1:n.*276G>C
ENST00000490775.5:n.870G>C
NM_000202.6:c.1007-137G>C	NP_000193.1:n.1007-137G>C
NM_001166550.2:c.737-137G>C	NP_001160022.1:n.737-137G>C
NM_006123.4:c.*53G>C	NP_006114.1:n.*53G>C
NR_104128.1:n.1432G>C
NM_000202.7:c.1007-137G>C	NP_000193.1:n.1007-137G>C
NM_001166550.3:c.737-137G>C	NP_001160022.1:n.737-137G>C
NM_000202.8:c.1007-137G>C MANE Select	NP_000193.1:n.1007-137G>C
NM_001166550.4:c.737-137G>C	NP_001160022.1:n.737-137G>C
NM_006123.5:c.*53G>C	NP_006114.1:n.*53G>C
NR_104128.2:n.1384G>C