Canonical Allele Identifier: CA414522556
Gene: IDS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.149498285T>G , CM000685.2:g.149498285T>G GRCh38
NC_000023.10:g.148579816T>G , CM000685.1:g.148579816T>G GRCh37
NC_000023.9:g.148387721T>G NCBI36
NG_011900.3:g.12050A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000340855.11:c.530A>C MANE Select ENSP00000339801.6:p.Glu177Ala
ENST00000651111.1:c.-104A>C ENSP00000498395.1:n.-104A>C
ENST00000340855.10:c.530A>C ENSP00000339801.6:p.Glu177Ala
ENST00000370441.8:c.530A>C ENSP00000359470.4:p.Glu177Ala
ENST00000422081.6:c.-104A>C ENSP00000477056.1:n.-104A>C
ENST00000441880.1:n.114-11187A>C
ENST00000464251.5:c.456A>C ENSP00000428980.1:n.456A>C
ENST00000466323.5:c.530A>C ENSP00000418264.1:p.Glu177Ala
ENST00000490775.5:n.315A>C
ENST00000523759.5:n.644A>C
NM_000202.6:c.530A>C NP_000193.1:p.Glu177Ala
NM_001166550.2:c.260A>C NP_001160022.1:p.Glu87Ala
NM_006123.4:c.530A>C NP_006114.1:p.Glu177Ala
NR_104128.1:n.747A>C
NM_000202.7:c.530A>C NP_000193.1:p.Glu177Ala
NM_001166550.3:c.260A>C NP_001160022.1:p.Glu87Ala
NM_000202.8:c.530A>C MANE Select NP_000193.1:p.Glu177Ala
NM_001166550.4:c.260A>C NP_001160022.1:p.Glu87Ala
NM_006123.5:c.530A>C NP_006114.1:p.Glu177Ala
NR_104128.2:n.699A>C