Canonical Allele Identifier: CA2824136141
Gene: IDS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.149487277T>A , CM000685.2:g.149487277T>A GRCh38
NC_000023.10:g.148568808T>A , CM000685.1:g.148568808T>A GRCh37
NC_000023.9:g.148376713T>A NCBI36
NG_011900.3:g.23058A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000340855.11:c.1007-179A>T MANE Select ENSP00000339801.6:n.1007-179A>T
ENST00000651111.1:c.374-179A>T ENSP00000498395.1:n.374-179A>T
ENST00000340855.10:c.1007-179A>T ENSP00000339801.6:n.1007-179A>T
ENST00000370441.8:c.*11A>T ENSP00000359470.4:n.*11A>T
ENST00000422081.6:c.374-179A>T ENSP00000477056.1:n.374-179A>T
ENST00000441880.1:n.114-179A>T
ENST00000466323.5:c.*234A>T ENSP00000418264.1:n.*234A>T
ENST00000490775.5:n.828A>T
NM_000202.6:c.1007-179A>T NP_000193.1:n.1007-179A>T
NM_001166550.2:c.737-179A>T NP_001160022.1:n.737-179A>T
NM_006123.4:c.*11A>T NP_006114.1:n.*11A>T
NR_104128.1:n.1390A>T
NM_000202.7:c.1007-179A>T NP_000193.1:n.1007-179A>T
NM_001166550.3:c.737-179A>T NP_001160022.1:n.737-179A>T
NM_000202.8:c.1007-179A>T MANE Select NP_000193.1:n.1007-179A>T
NM_001166550.4:c.737-179A>T NP_001160022.1:n.737-179A>T
NM_006123.5:c.*11A>T NP_006114.1:n.*11A>T
NR_104128.2:n.1342A>T