Canonical Allele Identifier: CA414526299
Gene: IDS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.149503403C>A , CM000685.2:g.149503403C>A GRCh38
NC_000023.10:g.148584933C>A , CM000685.1:g.148584933C>A GRCh37
NC_000023.9:g.148392838C>A NCBI36
NG_011900.3:g.6932G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000340855.11:c.327G>T MANE Select ENSP00000339801.6:p.Trp109Cys
ENST00000651111.1:c.-215-2366G>T ENSP00000498395.1:n.-215-2366G>T
ENST00000340855.10:c.327G>T ENSP00000339801.6:p.Trp109Cys
ENST00000370441.8:c.327G>T ENSP00000359470.4:p.Trp109Cys
ENST00000422081.6:c.-215-2366G>T ENSP00000477056.1:n.-215-2366G>T
ENST00000427113.2:n.770-1180G>T
ENST00000428056.6:c.327G>T ENSP00000390241.2:p.Trp109Cys
ENST00000441880.1:n.114-16305G>T
ENST00000464251.5:c.150G>T ENSP00000428980.1:p.Trp50Cys
ENST00000466323.5:c.327G>T ENSP00000418264.1:p.Trp109Cys
ENST00000523759.5:n.533-2366G>T
NM_000202.6:c.327G>T NP_000193.1:p.Trp109Cys
NM_001166550.2:c.57G>T NP_001160022.1:p.Trp19Cys
NM_006123.4:c.327G>T NP_006114.1:p.Trp109Cys
NR_104128.1:n.544G>T
NM_000202.7:c.327G>T NP_000193.1:p.Trp109Cys
NM_001166550.3:c.57G>T NP_001160022.1:p.Trp19Cys
NM_000202.8:c.327G>T MANE Select NP_000193.1:p.Trp109Cys
NM_001166550.4:c.57G>T NP_001160022.1:p.Trp19Cys
NM_006123.5:c.327G>T NP_006114.1:p.Trp109Cys
NR_104128.2:n.496G>T