Canonical Allele Identifier: CA414525527
Gene: IDS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.149503318G>C , CM000685.2:g.149503318G>C GRCh38
NC_000023.10:g.148584848G>C , CM000685.1:g.148584848G>C GRCh37
NC_000023.9:g.148392753G>C NCBI36
NG_011900.3:g.7017C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000340855.11:c.412C>G MANE Select ENSP00000339801.6:p.His138Asp
ENST00000651111.1:c.-215-2281C>G ENSP00000498395.1:n.-215-2281C>G
ENST00000340855.10:c.412C>G ENSP00000339801.6:p.His138Asp
ENST00000370441.8:c.412C>G ENSP00000359470.4:p.His138Asp
ENST00000422081.6:c.-215-2281C>G ENSP00000477056.1:n.-215-2281C>G
ENST00000427113.2:n.770-1095C>G
ENST00000428056.6:c.412C>G ENSP00000390241.2:p.His138Asp
ENST00000441880.1:n.114-16220C>G
ENST00000464251.5:c.235C>G ENSP00000428980.1:p.His79Asp
ENST00000466323.5:c.412C>G ENSP00000418264.1:p.His138Asp
ENST00000490775.5:n.71C>G
ENST00000523759.5:n.533-2281C>G
NM_000202.6:c.412C>G NP_000193.1:p.His138Asp
NM_001166550.2:c.142C>G NP_001160022.1:p.His48Asp
NM_006123.4:c.412C>G NP_006114.1:p.His138Asp
NR_104128.1:n.629C>G
NM_000202.7:c.412C>G NP_000193.1:p.His138Asp
NM_001166550.3:c.142C>G NP_001160022.1:p.His48Asp
NM_000202.8:c.412C>G MANE Select NP_000193.1:p.His138Asp
NM_001166550.4:c.142C>G NP_001160022.1:p.His48Asp
NM_006123.5:c.412C>G NP_006114.1:p.His138Asp
NR_104128.2:n.581C>G