Canonical Allele Identifier: CA414518990
Gene: IDS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.149487074T>G , CM000685.2:g.149487074T>G GRCh38
NC_000023.10:g.148568605T>G , CM000685.1:g.148568605T>G GRCh37
NC_000023.9:g.148376510T>G NCBI36
NG_011900.3:g.23261A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000340855.11:c.1031A>C MANE Select ENSP00000339801.6:p.Glu344Ala
ENST00000651111.1:c.398A>C ENSP00000498395.1:p.Glu133Ala
ENST00000340855.10:c.1031A>C ENSP00000339801.6:p.Glu344Ala
ENST00000422081.6:c.398A>C ENSP00000477056.1:p.Glu133Ala
ENST00000441880.1:n.138A>C
NM_000202.6:c.1031A>C NP_000193.1:p.Glu344Ala
NM_001166550.2:c.761A>C NP_001160022.1:p.Glu254Ala
NM_000202.7:c.1031A>C NP_000193.1:p.Glu344Ala
NM_001166550.3:c.761A>C NP_001160022.1:p.Glu254Ala
NM_000202.8:c.1031A>C MANE Select NP_000193.1:p.Glu344Ala
NM_001166550.4:c.761A>C NP_001160022.1:p.Glu254Ala