Canonical Allele Identifier: CA2465005655
Gene: IDS HGNC NCBI

Linked Data

dbSNP Id: rs2089344838

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.149487209C>G , CM000685.2:g.149487209C>G GRCh38
NC_000023.10:g.148568740C>G , CM000685.1:g.148568740C>G GRCh37
NC_000023.9:g.148376645C>G NCBI36
NG_011900.3:g.23126G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000340855.11:c.1007-111G>C MANE Select ENSP00000339801.6:n.1007-111G>C
ENST00000651111.1:c.374-111G>C ENSP00000498395.1:n.374-111G>C
ENST00000340855.10:c.1007-111G>C ENSP00000339801.6:n.1007-111G>C
ENST00000370441.8:c.*79G>C ENSP00000359470.4:n.*79G>C
ENST00000422081.6:c.374-111G>C ENSP00000477056.1:n.374-111G>C
ENST00000441880.1:n.114-111G>C
ENST00000466323.5:c.*302G>C ENSP00000418264.1:n.*302G>C
ENST00000490775.5:n.896G>C
NM_000202.6:c.1007-111G>C NP_000193.1:n.1007-111G>C
NM_001166550.2:c.737-111G>C NP_001160022.1:n.737-111G>C
NM_006123.4:c.*79G>C NP_006114.1:n.*79G>C
NR_104128.1:n.1458G>C
NM_000202.7:c.1007-111G>C NP_000193.1:n.1007-111G>C
NM_001166550.3:c.737-111G>C NP_001160022.1:n.737-111G>C
NM_000202.8:c.1007-111G>C MANE Select NP_000193.1:n.1007-111G>C
NM_001166550.4:c.737-111G>C NP_001160022.1:n.737-111G>C
NM_006123.5:c.*79G>C NP_006114.1:n.*79G>C
NR_104128.2:n.1410G>C