Canonical Allele Identifier: CA414522305
Gene: IDS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.149498187C>T , CM000685.2:g.149498187C>T GRCh38
NC_000023.10:g.148579718C>T , CM000685.1:g.148579718C>T GRCh37
NC_000023.9:g.148387623C>T NCBI36
NG_011900.3:g.12148G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000340855.11:c.628G>A MANE Select ENSP00000339801.6:p.Glu210Lys
ENST00000651111.1:c.-6G>A ENSP00000498395.1:n.-6G>A
ENST00000340855.10:c.628G>A ENSP00000339801.6:p.Glu210Lys
ENST00000370441.8:c.628G>A ENSP00000359470.4:p.Glu210Lys
ENST00000422081.6:c.-6G>A ENSP00000477056.1:n.-6G>A
ENST00000441880.1:n.114-11089G>A
ENST00000464251.5:c.554G>A ENSP00000428980.1:n.554G>A
ENST00000466019.1:n.80G>A
ENST00000466323.5:c.628G>A ENSP00000418264.1:p.Glu210Lys
ENST00000490775.5:n.413G>A
ENST00000523759.5:n.742G>A
NM_000202.6:c.628G>A NP_000193.1:p.Glu210Lys
NM_001166550.2:c.358G>A NP_001160022.1:p.Glu120Lys
NM_006123.4:c.628G>A NP_006114.1:p.Glu210Lys
NR_104128.1:n.845G>A
NM_000202.7:c.628G>A NP_000193.1:p.Glu210Lys
NM_001166550.3:c.358G>A NP_001160022.1:p.Glu120Lys
NM_000202.8:c.628G>A MANE Select NP_000193.1:p.Glu210Lys
NM_001166550.4:c.358G>A NP_001160022.1:p.Glu120Lys
NM_006123.5:c.628G>A NP_006114.1:p.Glu210Lys
NR_104128.2:n.797G>A