Canonical Allele Identifier: CA2694909264
Gene: IDS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.149490301T>C , CM000685.2:g.149490301T>C GRCh38
NC_000023.10:g.148571832T>C , CM000685.1:g.148571832T>C GRCh37
NC_000023.9:g.148379737T>C NCBI36
NG_011900.3:g.20034A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000340855.11:c.1006+13A>G MANE Select ENSP00000339801.6:n.1006+13A>G
ENST00000651111.1:c.373+13A>G ENSP00000498395.1:n.373+13A>G
ENST00000340855.10:c.1006+13A>G ENSP00000339801.6:n.1006+13A>G
ENST00000370441.8:c.1006+13A>G ENSP00000359470.4:n.1006+13A>G
ENST00000422081.6:c.373+13A>G ENSP00000477056.1:n.373+13A>G
ENST00000441880.1:n.114-3203A>G
ENST00000464251.5:c.932+13A>G ENSP00000428980.1:n.932+13A>G
ENST00000466323.5:c.*197+13A>G ENSP00000418264.1:n.*197+13A>G
ENST00000490775.5:n.791+13A>G
NM_000202.6:c.1006+13A>G NP_000193.1:n.1006+13A>G
NM_001166550.2:c.736+13A>G NP_001160022.1:n.736+13A>G
NM_006123.4:c.1006+13A>G NP_006114.1:n.1006+13A>G
NR_104128.1:n.1353+13A>G
NM_000202.7:c.1006+13A>G NP_000193.1:n.1006+13A>G
NM_001166550.3:c.736+13A>G NP_001160022.1:n.736+13A>G
NM_000202.8:c.1006+13A>G MANE Select NP_000193.1:n.1006+13A>G
NM_001166550.4:c.736+13A>G NP_001160022.1:n.736+13A>G
NM_006123.5:c.1006+13A>G NP_006114.1:n.1006+13A>G
NR_104128.2:n.1305+13A>G