Canonical Allele Identifier: CA255272
Gene: IDS HGNC NCBI

Linked Data

ClinVar Variation Id: 10490
dbSNP Id: rs104894860

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.149498301G>A , CM000685.2:g.149498301G>A GRCh38
NC_000023.10:g.148579832G>A , CM000685.1:g.148579832G>A GRCh37
NC_000023.9:g.148387737G>A NCBI36
NG_011900.3:g.12034C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000340855.11:c.514C>T MANE Select ENSP00000339801.6:p.Arg172Ter
ENST00000651111.1:c.-120C>T ENSP00000498395.1:n.-120C>T
ENST00000340855.10:c.514C>T ENSP00000339801.6:p.Arg172Ter
ENST00000370441.8:c.514C>T ENSP00000359470.4:p.Arg172Ter
ENST00000422081.6:c.-120C>T ENSP00000477056.1:n.-120C>T
ENST00000441880.1:n.114-11203C>T
ENST00000464251.5:c.440C>T ENSP00000428980.1:n.440C>T
ENST00000466323.5:c.514C>T ENSP00000418264.1:p.Arg172Ter
ENST00000490775.5:n.299C>T
ENST00000523759.5:n.628C>T
NM_000202.6:c.514C>T NP_000193.1:p.Arg172Ter
NM_001166550.2:c.244C>T NP_001160022.1:p.Arg82Ter
NM_006123.4:c.514C>T NP_006114.1:p.Arg172Ter
NR_104128.1:n.731C>T
NM_000202.7:c.514C>T NP_000193.1:p.Arg172Ter
NM_001166550.3:c.244C>T NP_001160022.1:p.Arg82Ter
NM_000202.8:c.514C>T MANE Select NP_000193.1:p.Arg172Ter
NM_001166550.4:c.244C>T NP_001160022.1:p.Arg82Ter
NM_006123.5:c.514C>T NP_006114.1:p.Arg172Ter
NR_104128.2:n.683C>T