Canonical Allele Identifier: CA414522118
Gene: IDS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.149498105A>C , CM000685.2:g.149498105A>C GRCh38
NC_000023.10:g.148579636A>C , CM000685.1:g.148579636A>C GRCh37
NC_000023.9:g.148387541A>C NCBI36
NG_011900.3:g.12230T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000340855.11:c.708+2T>G MANE Select ENSP00000339801.6:n.708+2T>G
ENST00000651111.1:c.75+2T>G ENSP00000498395.1:n.75+2T>G
ENST00000340855.10:c.708+2T>G ENSP00000339801.6:n.708+2T>G
ENST00000370441.8:c.708+2T>G ENSP00000359470.4:n.708+2T>G
ENST00000422081.6:c.75+2T>G ENSP00000477056.1:n.75+2T>G
ENST00000441880.1:n.114-11007T>G
ENST00000464251.5:c.634+2T>G ENSP00000428980.1:n.634+2T>G
ENST00000466019.1:n.160+2T>G
ENST00000466323.5:c.708+2T>G ENSP00000418264.1:n.708+2T>G
ENST00000490775.5:n.493+2T>G
NM_000202.6:c.708+2T>G NP_000193.1:n.708+2T>G
NM_001166550.2:c.438+2T>G NP_001160022.1:n.438+2T>G
NM_006123.4:c.708+2T>G NP_006114.1:n.708+2T>G
NR_104128.1:n.925+2T>G
NM_000202.7:c.708+2T>G NP_000193.1:n.708+2T>G
NM_001166550.3:c.438+2T>G NP_001160022.1:n.438+2T>G
NM_000202.8:c.708+2T>G MANE Select NP_000193.1:n.708+2T>G
NM_001166550.4:c.438+2T>G NP_001160022.1:n.438+2T>G
NM_006123.5:c.708+2T>G NP_006114.1:n.708+2T>G
NR_104128.2:n.877+2T>G