Canonical Allele Identifier: CA414527395
Gene: IDS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.149504199T>A , CM000685.2:g.149504199T>A GRCh38
NC_000023.10:g.148585729T>A , CM000685.1:g.148585729T>A GRCh37
NC_000023.9:g.148393633T>A NCBI36
NG_011900.3:g.6136A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000340855.11:c.198A>T MANE Select ENSP00000339801.6:p.Gln66His
ENST00000651111.1:c.-215-3162A>T ENSP00000498395.1:n.-215-3162A>T
ENST00000340855.10:c.198A>T ENSP00000339801.6:p.Gln66His
ENST00000370441.8:c.198A>T ENSP00000359470.4:p.Gln66His
ENST00000422081.6:c.-215-3162A>T ENSP00000477056.1:n.-215-3162A>T
ENST00000427113.2:n.770-1976A>T
ENST00000428056.6:c.198A>T ENSP00000390241.2:p.Gln66His
ENST00000441880.1:n.114-17101A>T
ENST00000464251.5:c.21A>T ENSP00000428980.1:p.Gln7His
ENST00000466323.5:c.198A>T ENSP00000418264.1:p.Gln66His
ENST00000521702.1:c.198A>T ENSP00000429745.1:p.Gln66His
ENST00000523759.5:n.533-3162A>T
NM_000202.6:c.198A>T NP_000193.1:p.Gln66His
NM_001166550.2:c.-29A>T NP_001160022.1:n.-29A>T
NM_006123.4:c.198A>T NP_006114.1:p.Gln66His
NR_104128.1:n.415A>T
NM_000202.7:c.198A>T NP_000193.1:p.Gln66His
NM_001166550.3:c.-29A>T NP_001160022.1:n.-29A>T
NM_000202.8:c.198A>T MANE Select NP_000193.1:p.Gln66His
NM_001166550.4:c.-29A>T NP_001160022.1:n.-29A>T
NM_006123.5:c.198A>T NP_006114.1:p.Gln66His
NR_104128.2:n.367A>T