Canonical Allele Identifier: CA414527406
Gene: IDS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.149504200T>G , CM000685.2:g.149504200T>G GRCh38
NC_000023.10:g.148585730T>G , CM000685.1:g.148585730T>G GRCh37
NC_000023.9:g.148393634T>G NCBI36
NG_011900.3:g.6135A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000340855.11:c.197A>C MANE Select ENSP00000339801.6:p.Gln66Pro
ENST00000651111.1:c.-215-3163A>C ENSP00000498395.1:n.-215-3163A>C
ENST00000340855.10:c.197A>C ENSP00000339801.6:p.Gln66Pro
ENST00000370441.8:c.197A>C ENSP00000359470.4:p.Gln66Pro
ENST00000422081.6:c.-215-3163A>C ENSP00000477056.1:n.-215-3163A>C
ENST00000427113.2:n.770-1977A>C
ENST00000428056.6:c.197A>C ENSP00000390241.2:p.Gln66Pro
ENST00000441880.1:n.114-17102A>C
ENST00000464251.5:c.20A>C ENSP00000428980.1:p.Gln7Pro
ENST00000466323.5:c.197A>C ENSP00000418264.1:p.Gln66Pro
ENST00000521702.1:c.197A>C ENSP00000429745.1:p.Gln66Pro
ENST00000523759.5:n.533-3163A>C
NM_000202.6:c.197A>C NP_000193.1:p.Gln66Pro
NM_001166550.2:c.-30A>C NP_001160022.1:n.-30A>C
NM_006123.4:c.197A>C NP_006114.1:p.Gln66Pro
NR_104128.1:n.414A>C
NM_000202.7:c.197A>C NP_000193.1:p.Gln66Pro
NM_001166550.3:c.-30A>C NP_001160022.1:n.-30A>C
NM_000202.8:c.197A>C MANE Select NP_000193.1:p.Gln66Pro
NM_001166550.4:c.-30A>C NP_001160022.1:n.-30A>C
NM_006123.5:c.197A>C NP_006114.1:p.Gln66Pro
NR_104128.2:n.366A>C