Canonical Allele Identifier: CA414522325
Gene: IDS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.149498195T>G , CM000685.2:g.149498195T>G GRCh38
NC_000023.10:g.148579726T>G , CM000685.1:g.148579726T>G GRCh37
NC_000023.9:g.148387631T>G NCBI36
NG_011900.3:g.12140A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000340855.11:c.620A>C MANE Select ENSP00000339801.6:p.Gln207Pro
ENST00000651111.1:c.-14A>C ENSP00000498395.1:n.-14A>C
ENST00000340855.10:c.620A>C ENSP00000339801.6:p.Gln207Pro
ENST00000370441.8:c.620A>C ENSP00000359470.4:p.Gln207Pro
ENST00000422081.6:c.-14A>C ENSP00000477056.1:n.-14A>C
ENST00000441880.1:n.114-11097A>C
ENST00000464251.5:c.546A>C ENSP00000428980.1:n.546A>C
ENST00000466019.1:n.72A>C
ENST00000466323.5:c.620A>C ENSP00000418264.1:p.Gln207Pro
ENST00000490775.5:n.405A>C
ENST00000523759.5:n.734A>C
NM_000202.6:c.620A>C NP_000193.1:p.Gln207Pro
NM_001166550.2:c.350A>C NP_001160022.1:p.Gln117Pro
NM_006123.4:c.620A>C NP_006114.1:p.Gln207Pro
NR_104128.1:n.837A>C
NM_000202.7:c.620A>C NP_000193.1:p.Gln207Pro
NM_001166550.3:c.350A>C NP_001160022.1:p.Gln117Pro
NM_000202.8:c.620A>C MANE Select NP_000193.1:p.Gln207Pro
NM_001166550.4:c.350A>C NP_001160022.1:p.Gln117Pro
NM_006123.5:c.620A>C NP_006114.1:p.Gln207Pro
NR_104128.2:n.789A>C