Canonical Allele Identifier: CA255271
Gene: IDS HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 10489
ClinVar RCV Id: RCV000011235
dbSNP Id: rs104894856

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.149500977G>C , CM000685.2:g.149500977G>C GRCh38
NC_000023.10:g.148582508G>C , CM000685.1:g.148582508G>C GRCh37
NC_000023.9:g.148390413G>C NCBI36
NG_011900.3:g.9358C>G

Transcript Alleles

HGVS Amino-acid change
NM_000202.6:c.479C>G VV NP_000193.1:p.Pro160Arg
NM_001166550.2:c.209C>G VV NP_001160022.1:p.Pro70Arg
NM_006123.4:c.479C>G VV NP_006114.1:p.Pro160Arg
NR_104128.1:n.696C>G
NM_000202.7:c.479C>G VV
NM_001166550.3:c.209C>G VV
NM_000202.8:c.479C>G VV MANE Preferred
ENST00000340855.10:c.479C>G ENSP00000339801.6:p.Pro160Arg
ENST00000370441.8:c.479C>G ENSP00000359470.4:p.Pro160Arg
ENST00000422081.6:c.-155C>G ENSP00000477056.1:p.=
ENST00000441880.1:n.114-13879C>G
ENST00000464251.5:n.405C>G ENSP00000428980.1:p.=
ENST00000466323.5:c.479C>G ENSP00000418264.1:p.Pro160Arg
ENST00000490775.5:n.138C>G
ENST00000523759.5:n.593C>G