Canonical Allele Identifier: CA414519857
Gene: IDS HGNC NCBI

Linked Data

ClinVar Variation Id: 988688
ClinVar RCV Id: RCV001291012
dbSNP Id: rs104894853

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.149490322G>T , CM000685.2:g.149490322G>T GRCh38
NC_000023.10:g.148571853G>T , CM000685.1:g.148571853G>T GRCh37
NC_000023.9:g.148379758G>T NCBI36
NG_011900.3:g.20013C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000340855.11:c.998C>A MANE Select ENSP00000339801.6:p.Ser333Ter
ENST00000651111.1:c.365C>A ENSP00000498395.1:p.Ser122Ter
ENST00000340855.10:c.998C>A ENSP00000339801.6:p.Ser333Ter
ENST00000370441.8:c.998C>A ENSP00000359470.4:p.Ser333Ter
ENST00000422081.6:c.365C>A ENSP00000477056.1:p.Ser122Ter
ENST00000441880.1:n.114-3224C>A
ENST00000464251.5:c.924C>A ENSP00000428980.1:n.924C>A
ENST00000466323.5:c.*189C>A ENSP00000418264.1:n.*189C>A
ENST00000490775.5:n.783C>A
NM_000202.6:c.998C>A NP_000193.1:p.Ser333Ter
NM_001166550.2:c.728C>A NP_001160022.1:p.Ser243Ter
NM_006123.4:c.998C>A NP_006114.1:p.Ser333Ter
NR_104128.1:n.1345C>A
NM_000202.7:c.998C>A NP_000193.1:p.Ser333Ter
NM_001166550.3:c.728C>A NP_001160022.1:p.Ser243Ter
NM_000202.8:c.998C>A MANE Select NP_000193.1:p.Ser333Ter
NM_001166550.4:c.728C>A NP_001160022.1:p.Ser243Ter
NM_006123.5:c.998C>A NP_006114.1:p.Ser333Ter
NR_104128.2:n.1297C>A