Canonical Allele Identifier: CA2465005460

Gene: IDS

Linked Data

• dbSNP Id: rs2089338578

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149486714C>G , CM000685.2:g.149486714C>G	GRCh38
NC_000023.10:g.148568245C>G , CM000685.1:g.148568245C>G	GRCh37
NC_000023.9:g.148376150C>G	NCBI36
NG_011900.3:g.23621G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.1180+211G>C MANE Select	ENSP00000339801.6:n.1180+211G>C
ENST00000651111.1:c.547+211G>C	ENSP00000498395.1:n.547+211G>C
ENST00000340855.10:c.1180+211G>C	ENSP00000339801.6:n.1180+211G>C
ENST00000422081.6:c.547+211G>C	ENSP00000477056.1:n.547+211G>C
ENST00000441880.1:n.287+211G>C
NM_000202.6:c.1180+211G>C	NP_000193.1:n.1180+211G>C
NM_001166550.2:c.910+211G>C	NP_001160022.1:n.910+211G>C
NM_000202.7:c.1180+211G>C	NP_000193.1:n.1180+211G>C
NM_001166550.3:c.910+211G>C	NP_001160022.1:n.910+211G>C
NM_000202.8:c.1180+211G>C MANE Select	NP_000193.1:n.1180+211G>C
NM_001166550.4:c.910+211G>C	NP_001160022.1:n.910+211G>C