Canonical Allele Identifier: CA414520299
Gene: IDS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.149490398C>A , CM000685.2:g.149490398C>A GRCh38
NC_000023.10:g.148571929C>A , CM000685.1:g.148571929C>A GRCh37
NC_000023.9:g.148379834C>A NCBI36
NG_011900.3:g.19937G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000340855.11:c.922G>T MANE Select ENSP00000339801.6:p.Asp308Tyr
ENST00000651111.1:c.289G>T ENSP00000498395.1:p.Asp97Tyr
ENST00000340855.10:c.922G>T ENSP00000339801.6:p.Asp308Tyr
ENST00000370441.8:c.922G>T ENSP00000359470.4:p.Asp308Tyr
ENST00000422081.6:c.289G>T ENSP00000477056.1:p.Asp97Tyr
ENST00000441880.1:n.114-3300G>T
ENST00000464251.5:c.848G>T ENSP00000428980.1:n.848G>T
ENST00000466323.5:c.*113G>T ENSP00000418264.1:n.*113G>T
ENST00000490775.5:n.707G>T
NM_000202.6:c.922G>T NP_000193.1:p.Asp308Tyr
NM_001166550.2:c.652G>T NP_001160022.1:p.Asp218Tyr
NM_006123.4:c.922G>T NP_006114.1:p.Asp308Tyr
NR_104128.1:n.1269G>T
NM_000202.7:c.922G>T NP_000193.1:p.Asp308Tyr
NM_001166550.3:c.652G>T NP_001160022.1:p.Asp218Tyr
NM_000202.8:c.922G>T MANE Select NP_000193.1:p.Asp308Tyr
NM_001166550.4:c.652G>T NP_001160022.1:p.Asp218Tyr
NM_006123.5:c.922G>T NP_006114.1:p.Asp308Tyr
NR_104128.2:n.1221G>T