Canonical Allele Identifier: CA414521919
Gene: IDS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.149496426A>C , CM000685.2:g.149496426A>C GRCh38
NC_000023.10:g.148577957A>C , CM000685.1:g.148577957A>C GRCh37
NC_000023.9:g.148385862A>C NCBI36
NG_011900.3:g.13909T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000340855.11:c.799T>G MANE Select ENSP00000339801.6:p.Trp267Gly
ENST00000651111.1:c.166T>G ENSP00000498395.1:p.Trp56Gly
ENST00000340855.10:c.799T>G ENSP00000339801.6:p.Trp267Gly
ENST00000370441.8:c.799T>G ENSP00000359470.4:p.Trp267Gly
ENST00000422081.6:c.166T>G ENSP00000477056.1:p.Trp56Gly
ENST00000441880.1:n.114-9328T>G
ENST00000464251.5:c.725T>G ENSP00000428980.1:n.725T>G
ENST00000466019.1:n.251T>G
ENST00000466323.5:c.799T>G ENSP00000418264.1:p.Trp267Gly
ENST00000490775.5:n.584T>G
NM_000202.6:c.799T>G NP_000193.1:p.Trp267Gly
NM_001166550.2:c.529T>G NP_001160022.1:p.Trp177Gly
NM_006123.4:c.799T>G NP_006114.1:p.Trp267Gly
NR_104128.1:n.1016T>G
NM_000202.7:c.799T>G NP_000193.1:p.Trp267Gly
NM_001166550.3:c.529T>G NP_001160022.1:p.Trp177Gly
NM_000202.8:c.799T>G MANE Select NP_000193.1:p.Trp267Gly
NM_001166550.4:c.529T>G NP_001160022.1:p.Trp177Gly
NM_006123.5:c.799T>G NP_006114.1:p.Trp267Gly
NR_104128.2:n.968T>G