Canonical Allele Identifier: CA414522365
Gene: IDS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.149498208C>T , CM000685.2:g.149498208C>T GRCh38
NC_000023.10:g.148579739C>T , CM000685.1:g.148579739C>T GRCh37
NC_000023.9:g.148387644C>T NCBI36
NG_011900.3:g.12127G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000340855.11:c.607G>A MANE Select ENSP00000339801.6:p.Glu203Lys
ENST00000651111.1:c.-27G>A ENSP00000498395.1:n.-27G>A
ENST00000340855.10:c.607G>A ENSP00000339801.6:p.Glu203Lys
ENST00000370441.8:c.607G>A ENSP00000359470.4:p.Glu203Lys
ENST00000422081.6:c.-27G>A ENSP00000477056.1:n.-27G>A
ENST00000441880.1:n.114-11110G>A
ENST00000464251.5:c.533G>A ENSP00000428980.1:n.533G>A
ENST00000466019.1:n.59G>A
ENST00000466323.5:c.607G>A ENSP00000418264.1:p.Glu203Lys
ENST00000490775.5:n.392G>A
ENST00000523759.5:n.721G>A
NM_000202.6:c.607G>A NP_000193.1:p.Glu203Lys
NM_001166550.2:c.337G>A NP_001160022.1:p.Glu113Lys
NM_006123.4:c.607G>A NP_006114.1:p.Glu203Lys
NR_104128.1:n.824G>A
NM_000202.7:c.607G>A NP_000193.1:p.Glu203Lys
NM_001166550.3:c.337G>A NP_001160022.1:p.Glu113Lys
NM_000202.8:c.607G>A MANE Select NP_000193.1:p.Glu203Lys
NM_001166550.4:c.337G>A NP_001160022.1:p.Glu113Lys
NM_006123.5:c.607G>A NP_006114.1:p.Glu203Lys
NR_104128.2:n.776G>A