Canonical Allele Identifier: CA414521914
Gene: IDS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.149496424C>T , CM000685.2:g.149496424C>T GRCh38
NC_000023.10:g.148577955C>T , CM000685.1:g.148577955C>T GRCh37
NC_000023.9:g.148385860C>T NCBI36
NG_011900.3:g.13911G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000340855.11:c.801G>A MANE Select ENSP00000339801.6:p.Trp267Ter
ENST00000651111.1:c.168G>A ENSP00000498395.1:p.Trp56Ter
ENST00000340855.10:c.801G>A ENSP00000339801.6:p.Trp267Ter
ENST00000370441.8:c.801G>A ENSP00000359470.4:p.Trp267Ter
ENST00000422081.6:c.168G>A ENSP00000477056.1:p.Trp56Ter
ENST00000441880.1:n.114-9326G>A
ENST00000464251.5:c.727G>A ENSP00000428980.1:n.727G>A
ENST00000466019.1:n.253G>A
ENST00000466323.5:c.801G>A ENSP00000418264.1:p.Trp267Ter
ENST00000490775.5:n.586G>A
NM_000202.6:c.801G>A NP_000193.1:p.Trp267Ter
NM_001166550.2:c.531G>A NP_001160022.1:p.Trp177Ter
NM_006123.4:c.801G>A NP_006114.1:p.Trp267Ter
NR_104128.1:n.1018G>A
NM_000202.7:c.801G>A NP_000193.1:p.Trp267Ter
NM_001166550.3:c.531G>A NP_001160022.1:p.Trp177Ter
NM_000202.8:c.801G>A MANE Select NP_000193.1:p.Trp267Ter
NM_001166550.4:c.531G>A NP_001160022.1:p.Trp177Ter
NM_006123.5:c.801G>A NP_006114.1:p.Trp267Ter
NR_104128.2:n.970G>A