Canonical Allele Identifier: CA414525503
Gene: IDS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.149503316G>C , CM000685.2:g.149503316G>C GRCh38
NC_000023.10:g.148584846G>C , CM000685.1:g.148584846G>C GRCh37
NC_000023.9:g.148392751G>C NCBI36
NG_011900.3:g.7019C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000340855.11:c.414C>G MANE Select ENSP00000339801.6:p.His138Gln
ENST00000651111.1:c.-215-2279C>G ENSP00000498395.1:n.-215-2279C>G
ENST00000340855.10:c.414C>G ENSP00000339801.6:p.His138Gln
ENST00000370441.8:c.414C>G ENSP00000359470.4:p.His138Gln
ENST00000422081.6:c.-215-2279C>G ENSP00000477056.1:n.-215-2279C>G
ENST00000427113.2:n.770-1093C>G
ENST00000428056.6:c.414C>G ENSP00000390241.2:p.His138Gln
ENST00000441880.1:n.114-16218C>G
ENST00000464251.5:c.237C>G ENSP00000428980.1:p.His79Gln
ENST00000466323.5:c.414C>G ENSP00000418264.1:p.His138Gln
ENST00000490775.5:n.73C>G
ENST00000523759.5:n.533-2279C>G
NM_000202.6:c.414C>G NP_000193.1:p.His138Gln
NM_001166550.2:c.144C>G NP_001160022.1:p.His48Gln
NM_006123.4:c.414C>G NP_006114.1:p.His138Gln
NR_104128.1:n.631C>G
NM_000202.7:c.414C>G NP_000193.1:p.His138Gln
NM_001166550.3:c.144C>G NP_001160022.1:p.His48Gln
NM_000202.8:c.414C>G MANE Select NP_000193.1:p.His138Gln
NM_001166550.4:c.144C>G NP_001160022.1:p.His48Gln
NM_006123.5:c.414C>G NP_006114.1:p.His138Gln
NR_104128.2:n.583C>G