Canonical Allele Identifier: CA414522945
Gene: IDS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.149500958T>G , CM000685.2:g.149500958T>G GRCh38
NC_000023.10:g.148582489T>G , CM000685.1:g.148582489T>G GRCh37
NC_000023.9:g.148390394T>G NCBI36
NG_011900.3:g.9377A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000340855.11:c.498A>C MANE Select ENSP00000339801.6:p.Glu166Asp
ENST00000651111.1:c.-136A>C ENSP00000498395.1:n.-136A>C
ENST00000340855.10:c.498A>C ENSP00000339801.6:p.Glu166Asp
ENST00000370441.8:c.498A>C ENSP00000359470.4:p.Glu166Asp
ENST00000422081.6:c.-136A>C ENSP00000477056.1:n.-136A>C
ENST00000441880.1:n.114-13860A>C
ENST00000464251.5:c.424A>C ENSP00000428980.1:n.424A>C
ENST00000466323.5:c.498A>C ENSP00000418264.1:p.Glu166Asp
ENST00000490775.5:n.157A>C
ENST00000523759.5:n.612A>C
NM_000202.6:c.498A>C NP_000193.1:p.Glu166Asp
NM_001166550.2:c.228A>C NP_001160022.1:p.Glu76Asp
NM_006123.4:c.498A>C NP_006114.1:p.Glu166Asp
NR_104128.1:n.715A>C
NM_000202.7:c.498A>C NP_000193.1:p.Glu166Asp
NM_001166550.3:c.228A>C NP_001160022.1:p.Glu76Asp
NM_000202.8:c.498A>C MANE Select NP_000193.1:p.Glu166Asp
NM_001166550.4:c.228A>C NP_001160022.1:p.Glu76Asp
NM_006123.5:c.498A>C NP_006114.1:p.Glu166Asp
NR_104128.2:n.667A>C