Canonical Allele Identifier: CA414526083
Gene: IDS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.149503377G>C , CM000685.2:g.149503377G>C GRCh38
NC_000023.10:g.148584907G>C , CM000685.1:g.148584907G>C GRCh37
NC_000023.9:g.148392812G>C NCBI36
NG_011900.3:g.6958C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000340855.11:c.353C>G MANE Select ENSP00000339801.6:p.Thr118Ser
ENST00000651111.1:c.-215-2340C>G ENSP00000498395.1:n.-215-2340C>G
ENST00000340855.10:c.353C>G ENSP00000339801.6:p.Thr118Ser
ENST00000370441.8:c.353C>G ENSP00000359470.4:p.Thr118Ser
ENST00000422081.6:c.-215-2340C>G ENSP00000477056.1:n.-215-2340C>G
ENST00000427113.2:n.770-1154C>G
ENST00000428056.6:c.353C>G ENSP00000390241.2:p.Thr118Ser
ENST00000441880.1:n.114-16279C>G
ENST00000464251.5:c.176C>G ENSP00000428980.1:p.Thr59Ser
ENST00000466323.5:c.353C>G ENSP00000418264.1:p.Thr118Ser
ENST00000490775.5:n.12C>G
ENST00000523759.5:n.533-2340C>G
NM_000202.6:c.353C>G NP_000193.1:p.Thr118Ser
NM_001166550.2:c.83C>G NP_001160022.1:p.Thr28Ser
NM_006123.4:c.353C>G NP_006114.1:p.Thr118Ser
NR_104128.1:n.570C>G
NM_000202.7:c.353C>G NP_000193.1:p.Thr118Ser
NM_001166550.3:c.83C>G NP_001160022.1:p.Thr28Ser
NM_000202.8:c.353C>G MANE Select NP_000193.1:p.Thr118Ser
NM_001166550.4:c.83C>G NP_001160022.1:p.Thr28Ser
NM_006123.5:c.353C>G NP_006114.1:p.Thr118Ser
NR_104128.2:n.522C>G