Canonical Allele Identifier: CA414519984
Gene: IDS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.149490344T>A , CM000685.2:g.149490344T>A GRCh38
NC_000023.10:g.148571875T>A , CM000685.1:g.148571875T>A GRCh37
NC_000023.9:g.148379780T>A NCBI36
NG_011900.3:g.19991A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000340855.11:c.976A>T MANE Select ENSP00000339801.6:p.Ser326Cys
ENST00000651111.1:c.343A>T ENSP00000498395.1:p.Ser115Cys
ENST00000340855.10:c.976A>T ENSP00000339801.6:p.Ser326Cys
ENST00000370441.8:c.976A>T ENSP00000359470.4:p.Ser326Cys
ENST00000422081.6:c.343A>T ENSP00000477056.1:p.Ser115Cys
ENST00000441880.1:n.114-3246A>T
ENST00000464251.5:c.902A>T ENSP00000428980.1:n.902A>T
ENST00000466323.5:c.*167A>T ENSP00000418264.1:n.*167A>T
ENST00000490775.5:n.761A>T
NM_000202.6:c.976A>T NP_000193.1:p.Ser326Cys
NM_001166550.2:c.706A>T NP_001160022.1:p.Ser236Cys
NM_006123.4:c.976A>T NP_006114.1:p.Ser326Cys
NR_104128.1:n.1323A>T
NM_000202.7:c.976A>T NP_000193.1:p.Ser326Cys
NM_001166550.3:c.706A>T NP_001160022.1:p.Ser236Cys
NM_000202.8:c.976A>T MANE Select NP_000193.1:p.Ser326Cys
NM_001166550.4:c.706A>T NP_001160022.1:p.Ser236Cys
NM_006123.5:c.976A>T NP_006114.1:p.Ser326Cys
NR_104128.2:n.1275A>T