Canonical Allele Identifier: CA414522505
Gene: IDS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.149498263G>T , CM000685.2:g.149498263G>T GRCh38
NC_000023.10:g.148579794G>T , CM000685.1:g.148579794G>T GRCh37
NC_000023.9:g.148387699G>T NCBI36
NG_011900.3:g.12072C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000340855.11:c.552C>A MANE Select ENSP00000339801.6:p.Cys184Ter
ENST00000651111.1:c.-82C>A ENSP00000498395.1:n.-82C>A
ENST00000340855.10:c.552C>A ENSP00000339801.6:p.Cys184Ter
ENST00000370441.8:c.552C>A ENSP00000359470.4:p.Cys184Ter
ENST00000422081.6:c.-82C>A ENSP00000477056.1:n.-82C>A
ENST00000441880.1:n.114-11165C>A
ENST00000464251.5:c.478C>A ENSP00000428980.1:n.478C>A
ENST00000466019.1:n.4C>A
ENST00000466323.5:c.552C>A ENSP00000418264.1:p.Cys184Ter
ENST00000490775.5:n.337C>A
ENST00000523759.5:n.666C>A
NM_000202.6:c.552C>A NP_000193.1:p.Cys184Ter
NM_001166550.2:c.282C>A NP_001160022.1:p.Cys94Ter
NM_006123.4:c.552C>A NP_006114.1:p.Cys184Ter
NR_104128.1:n.769C>A
NM_000202.7:c.552C>A NP_000193.1:p.Cys184Ter
NM_001166550.3:c.282C>A NP_001160022.1:p.Cys94Ter
NM_000202.8:c.552C>A MANE Select NP_000193.1:p.Cys184Ter
NM_001166550.4:c.282C>A NP_001160022.1:p.Cys94Ter
NM_006123.5:c.552C>A NP_006114.1:p.Cys184Ter
NR_104128.2:n.721C>A