Canonical Allele Identifier: CA414526578
Gene: IDS HGNC NCBI

Linked Data

dbSNP Id: rs2089497099

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.149503437T>G , CM000685.2:g.149503437T>G GRCh38
NC_000023.10:g.148584967T>G , CM000685.1:g.148584967T>G GRCh37
NC_000023.9:g.148392872T>G NCBI36
NG_011900.3:g.6898A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000340855.11:c.293A>C MANE Select ENSP00000339801.6:p.Asp98Ala
ENST00000651111.1:c.-215-2400A>C ENSP00000498395.1:n.-215-2400A>C
ENST00000340855.10:c.293A>C ENSP00000339801.6:p.Asp98Ala
ENST00000370441.8:c.293A>C ENSP00000359470.4:p.Asp98Ala
ENST00000422081.6:c.-215-2400A>C ENSP00000477056.1:n.-215-2400A>C
ENST00000427113.2:n.770-1214A>C
ENST00000428056.6:c.293A>C ENSP00000390241.2:p.Asp98Ala
ENST00000441880.1:n.114-16339A>C
ENST00000464251.5:c.116A>C ENSP00000428980.1:p.Asp39Ala
ENST00000466323.5:c.293A>C ENSP00000418264.1:p.Asp98Ala
ENST00000523759.5:n.533-2400A>C
NM_000202.6:c.293A>C NP_000193.1:p.Asp98Ala
NM_001166550.2:c.23A>C NP_001160022.1:p.Asp8Ala
NM_006123.4:c.293A>C NP_006114.1:p.Asp98Ala
NR_104128.1:n.510A>C
NM_000202.7:c.293A>C NP_000193.1:p.Asp98Ala
NM_001166550.3:c.23A>C NP_001160022.1:p.Asp8Ala
NM_000202.8:c.293A>C MANE Select NP_000193.1:p.Asp98Ala
NM_001166550.4:c.23A>C NP_001160022.1:p.Asp8Ala
NM_006123.5:c.293A>C NP_006114.1:p.Asp98Ala
NR_104128.2:n.462A>C