Canonical Allele Identifier: CA414520447
Gene: IDS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.149490422A>G , CM000685.2:g.149490422A>G GRCh38
NC_000023.10:g.148571953A>G , CM000685.1:g.148571953A>G GRCh37
NC_000023.9:g.148379858A>G NCBI36
NG_011900.3:g.19913T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000340855.11:c.898T>C MANE Select ENSP00000339801.6:p.Tyr300His
ENST00000651111.1:c.265T>C ENSP00000498395.1:p.Tyr89His
ENST00000340855.10:c.898T>C ENSP00000339801.6:p.Tyr300His
ENST00000370441.8:c.898T>C ENSP00000359470.4:p.Tyr300His
ENST00000422081.6:c.265T>C ENSP00000477056.1:p.Tyr89His
ENST00000441880.1:n.114-3324T>C
ENST00000464251.5:c.824T>C ENSP00000428980.1:n.824T>C
ENST00000466323.5:c.*89T>C ENSP00000418264.1:n.*89T>C
ENST00000490775.5:n.683T>C
NM_000202.6:c.898T>C NP_000193.1:p.Tyr300His
NM_001166550.2:c.628T>C NP_001160022.1:p.Tyr210His
NM_006123.4:c.898T>C NP_006114.1:p.Tyr300His
NR_104128.1:n.1245T>C
NM_000202.7:c.898T>C NP_000193.1:p.Tyr300His
NM_001166550.3:c.628T>C NP_001160022.1:p.Tyr210His
NM_000202.8:c.898T>C MANE Select NP_000193.1:p.Tyr300His
NM_001166550.4:c.628T>C NP_001160022.1:p.Tyr210His
NM_006123.5:c.898T>C NP_006114.1:p.Tyr300His
NR_104128.2:n.1197T>C