Canonical Allele Identifier: CA414522611
Gene: IDS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.149498309T>G , CM000685.2:g.149498309T>G GRCh38
NC_000023.10:g.148579840T>G , CM000685.1:g.148579840T>G GRCh37
NC_000023.9:g.148387745T>G NCBI36
NG_011900.3:g.12026A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000340855.11:c.508-2A>C MANE Select ENSP00000339801.6:n.508-2A>C
ENST00000651111.1:c.-126-2A>C ENSP00000498395.1:n.-126-2A>C
ENST00000340855.10:c.508-2A>C ENSP00000339801.6:n.508-2A>C
ENST00000370441.8:c.508-2A>C ENSP00000359470.4:n.508-2A>C
ENST00000422081.6:c.-126-2A>C ENSP00000477056.1:n.-126-2A>C
ENST00000441880.1:n.114-11211A>C
ENST00000464251.5:c.434-2A>C ENSP00000428980.1:n.434-2A>C
ENST00000466323.5:c.508-2A>C ENSP00000418264.1:n.508-2A>C
ENST00000490775.5:n.293-2A>C
ENST00000523759.5:n.622-2A>C
NM_000202.6:c.508-2A>C NP_000193.1:n.508-2A>C
NM_001166550.2:c.238-2A>C NP_001160022.1:n.238-2A>C
NM_006123.4:c.508-2A>C NP_006114.1:n.508-2A>C
NR_104128.1:n.725-2A>C
NM_000202.7:c.508-2A>C NP_000193.1:n.508-2A>C
NM_001166550.3:c.238-2A>C NP_001160022.1:n.238-2A>C
NM_000202.8:c.508-2A>C MANE Select NP_000193.1:n.508-2A>C
NM_001166550.4:c.238-2A>C NP_001160022.1:n.238-2A>C
NM_006123.5:c.508-2A>C NP_006114.1:n.508-2A>C
NR_104128.2:n.677-2A>C