Canonical Allele Identifier: CA414521916
Gene: IDS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.149496425C>G , CM000685.2:g.149496425C>G GRCh38
NC_000023.10:g.148577956C>G , CM000685.1:g.148577956C>G GRCh37
NC_000023.9:g.148385861C>G NCBI36
NG_011900.3:g.13910G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000340855.11:c.800G>C MANE Select ENSP00000339801.6:p.Trp267Ser
ENST00000651111.1:c.167G>C ENSP00000498395.1:p.Trp56Ser
ENST00000340855.10:c.800G>C ENSP00000339801.6:p.Trp267Ser
ENST00000370441.8:c.800G>C ENSP00000359470.4:p.Trp267Ser
ENST00000422081.6:c.167G>C ENSP00000477056.1:p.Trp56Ser
ENST00000441880.1:n.114-9327G>C
ENST00000464251.5:c.726G>C ENSP00000428980.1:n.726G>C
ENST00000466019.1:n.252G>C
ENST00000466323.5:c.800G>C ENSP00000418264.1:p.Trp267Ser
ENST00000490775.5:n.585G>C
NM_000202.6:c.800G>C NP_000193.1:p.Trp267Ser
NM_001166550.2:c.530G>C NP_001160022.1:p.Trp177Ser
NM_006123.4:c.800G>C NP_006114.1:p.Trp267Ser
NR_104128.1:n.1017G>C
NM_000202.7:c.800G>C NP_000193.1:p.Trp267Ser
NM_001166550.3:c.530G>C NP_001160022.1:p.Trp177Ser
NM_000202.8:c.800G>C MANE Select NP_000193.1:p.Trp267Ser
NM_001166550.4:c.530G>C NP_001160022.1:p.Trp177Ser
NM_006123.5:c.800G>C NP_006114.1:p.Trp267Ser
NR_104128.2:n.969G>C