Canonical Allele Identifier: CA414518103
Gene: IDS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.149482965G>T , CM000685.2:g.149482965G>T GRCh38
NC_000023.10:g.148564496G>T , CM000685.1:g.148564496G>T GRCh37
NC_000023.9:g.148372401G>T NCBI36
NG_011900.3:g.27370C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000340855.11:c.1434C>A MANE Select ENSP00000339801.6:p.Asp478Glu
ENST00000651111.1:c.801C>A ENSP00000498395.1:p.Asp267Glu
ENST00000340855.10:c.1434C>A ENSP00000339801.6:p.Asp478Glu
ENST00000422081.6:c.801C>A ENSP00000477056.1:p.Asp267Glu
NM_000202.6:c.1434C>A NP_000193.1:p.Asp478Glu
NM_001166550.2:c.1164C>A NP_001160022.1:p.Asp388Glu
NM_000202.7:c.1434C>A NP_000193.1:p.Asp478Glu
NM_001166550.3:c.1164C>A NP_001160022.1:p.Asp388Glu
NM_000202.8:c.1434C>A MANE Select NP_000193.1:p.Asp478Glu
NM_001166550.4:c.1164C>A NP_001160022.1:p.Asp388Glu