Canonical Allele Identifier: CA414525040
Gene: IDS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.149503246G>C , CM000685.2:g.149503246G>C GRCh38
NC_000023.10:g.148584776G>C , CM000685.1:g.148584776G>C GRCh37
NC_000023.9:g.148392681G>C NCBI36
NG_011900.3:g.7089C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000340855.11:c.418+66C>G MANE Select ENSP00000339801.6:n.418+66C>G
ENST00000651111.1:c.-215-2209C>G ENSP00000498395.1:n.-215-2209C>G
ENST00000340855.10:c.418+66C>G ENSP00000339801.6:n.418+66C>G
ENST00000370441.8:c.418+66C>G ENSP00000359470.4:n.418+66C>G
ENST00000422081.6:c.-215-2209C>G ENSP00000477056.1:n.-215-2209C>G
ENST00000427113.2:n.770-1023C>G
ENST00000428056.6:c.484C>G ENSP00000390241.2:p.Leu162Val
ENST00000441880.1:n.114-16148C>G
ENST00000464251.5:c.241+66C>G ENSP00000428980.1:n.241+66C>G
ENST00000466323.5:c.418+66C>G ENSP00000418264.1:n.418+66C>G
ENST00000490775.5:n.77+66C>G
ENST00000523759.5:n.533-2209C>G
NM_000202.6:c.418+66C>G NP_000193.1:n.418+66C>G
NM_001166550.2:c.148+66C>G NP_001160022.1:n.148+66C>G
NM_006123.4:c.418+66C>G NP_006114.1:n.418+66C>G
NR_104128.1:n.635+66C>G
NM_000202.7:c.418+66C>G NP_000193.1:n.418+66C>G
NM_001166550.3:c.148+66C>G NP_001160022.1:n.148+66C>G
NM_000202.8:c.418+66C>G MANE Select NP_000193.1:n.418+66C>G
NM_001166550.4:c.148+66C>G NP_001160022.1:n.148+66C>G
NM_006123.5:c.418+66C>G NP_006114.1:n.418+66C>G
NR_104128.2:n.587+66C>G