Canonical Allele Identifier: CA350842
Gene: IDS HGNC NCBI

Linked Data

ClinVar Variation Id: 221207
ClinVar RCV Id: RCV000206848
dbSNP Id: rs193302910

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.149503329C>T , CM000685.2:g.149503329C>T GRCh38
NC_000023.10:g.148584859C>T , CM000685.1:g.148584859C>T GRCh37
NC_000023.9:g.148392764C>T NCBI36
NG_011900.3:g.7006G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000340855.11:c.401G>A MANE Select ENSP00000339801.6:p.Gly134Glu
ENST00000651111.1:c.-215-2292G>A ENSP00000498395.1:n.-215-2292G>A
ENST00000340855.10:c.401G>A ENSP00000339801.6:p.Gly134Glu
ENST00000370441.8:c.401G>A ENSP00000359470.4:p.Gly134Glu
ENST00000422081.6:c.-215-2292G>A ENSP00000477056.1:n.-215-2292G>A
ENST00000427113.2:n.770-1106G>A
ENST00000428056.6:c.401G>A ENSP00000390241.2:p.Gly134Glu
ENST00000441880.1:n.114-16231G>A
ENST00000464251.5:c.224G>A ENSP00000428980.1:p.Gly75Glu
ENST00000466323.5:c.401G>A ENSP00000418264.1:p.Gly134Glu
ENST00000490775.5:n.60G>A
ENST00000523759.5:n.533-2292G>A
NM_000202.6:c.401G>A NP_000193.1:p.Gly134Glu
NM_001166550.2:c.131G>A NP_001160022.1:p.Gly44Glu
NM_006123.4:c.401G>A NP_006114.1:p.Gly134Glu
NR_104128.1:n.618G>A
NM_000202.7:c.401G>A NP_000193.1:p.Gly134Glu
NM_001166550.3:c.131G>A NP_001160022.1:p.Gly44Glu
NM_000202.8:c.401G>A MANE Select NP_000193.1:p.Gly134Glu
NM_001166550.4:c.131G>A NP_001160022.1:p.Gly44Glu
NM_006123.5:c.401G>A NP_006114.1:p.Gly134Glu
NR_104128.2:n.570G>A