Canonical Allele Identifier: CA414522122
Gene: IDS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.149498106C>G , CM000685.2:g.149498106C>G GRCh38
NC_000023.10:g.148579637C>G , CM000685.1:g.148579637C>G GRCh37
NC_000023.9:g.148387542C>G NCBI36
NG_011900.3:g.12229G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000340855.11:c.708+1G>C MANE Select ENSP00000339801.6:n.708+1G>C
ENST00000651111.1:c.75+1G>C ENSP00000498395.1:n.75+1G>C
ENST00000340855.10:c.708+1G>C ENSP00000339801.6:n.708+1G>C
ENST00000370441.8:c.708+1G>C ENSP00000359470.4:n.708+1G>C
ENST00000422081.6:c.75+1G>C ENSP00000477056.1:n.75+1G>C
ENST00000441880.1:n.114-11008G>C
ENST00000464251.5:c.634+1G>C ENSP00000428980.1:n.634+1G>C
ENST00000466019.1:n.160+1G>C
ENST00000466323.5:c.708+1G>C ENSP00000418264.1:n.708+1G>C
ENST00000490775.5:n.493+1G>C
NM_000202.6:c.708+1G>C NP_000193.1:n.708+1G>C
NM_001166550.2:c.438+1G>C NP_001160022.1:n.438+1G>C
NM_006123.4:c.708+1G>C NP_006114.1:n.708+1G>C
NR_104128.1:n.925+1G>C
NM_000202.7:c.708+1G>C NP_000193.1:n.708+1G>C
NM_001166550.3:c.438+1G>C NP_001160022.1:n.438+1G>C
NM_000202.8:c.708+1G>C MANE Select NP_000193.1:n.708+1G>C
NM_001166550.4:c.438+1G>C NP_001160022.1:n.438+1G>C
NM_006123.5:c.708+1G>C NP_006114.1:n.708+1G>C
NR_104128.2:n.877+1G>C