Canonical Allele Identifier: CA2579719146
Gene: IDS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.149487146C>T , CM000685.2:g.149487146C>T GRCh38
NC_000023.10:g.148568677C>T , CM000685.1:g.148568677C>T GRCh37
NC_000023.9:g.148376582C>T NCBI36
NG_011900.3:g.23189G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000340855.11:c.1007-48G>A MANE Select ENSP00000339801.6:n.1007-48G>A
ENST00000651111.1:c.374-48G>A ENSP00000498395.1:n.374-48G>A
ENST00000340855.10:c.1007-48G>A ENSP00000339801.6:n.1007-48G>A
ENST00000370441.8:c.*142G>A ENSP00000359470.4:n.*142G>A
ENST00000422081.6:c.374-48G>A ENSP00000477056.1:n.374-48G>A
ENST00000441880.1:n.114-48G>A
ENST00000466323.5:c.*365G>A ENSP00000418264.1:n.*365G>A
NM_000202.6:c.1007-48G>A NP_000193.1:n.1007-48G>A
NM_001166550.2:c.737-48G>A NP_001160022.1:n.737-48G>A
NM_006123.4:c.*142G>A NP_006114.1:n.*142G>A
NR_104128.1:n.1521G>A
NM_000202.7:c.1007-48G>A NP_000193.1:n.1007-48G>A
NM_001166550.3:c.737-48G>A NP_001160022.1:n.737-48G>A
NM_000202.8:c.1007-48G>A MANE Select NP_000193.1:n.1007-48G>A
NM_001166550.4:c.737-48G>A NP_001160022.1:n.737-48G>A
NM_006123.5:c.*142G>A NP_006114.1:n.*142G>A
NR_104128.2:n.1473G>A