Canonical Allele Identifier: CA414523046
Gene: IDS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.149500979A>T , CM000685.2:g.149500979A>T GRCh38
NC_000023.10:g.148582510A>T , CM000685.1:g.148582510A>T GRCh37
NC_000023.9:g.148390415A>T NCBI36
NG_011900.3:g.9356T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000340855.11:c.477T>A MANE Select ENSP00000339801.6:p.His159Gln
ENST00000651111.1:c.-157T>A ENSP00000498395.1:n.-157T>A
ENST00000340855.10:c.477T>A ENSP00000339801.6:p.His159Gln
ENST00000370441.8:c.477T>A ENSP00000359470.4:p.His159Gln
ENST00000422081.6:c.-157T>A ENSP00000477056.1:n.-157T>A
ENST00000441880.1:n.114-13881T>A
ENST00000464251.5:c.403T>A ENSP00000428980.1:n.403T>A
ENST00000466323.5:c.477T>A ENSP00000418264.1:p.His159Gln
ENST00000490775.5:n.136T>A
ENST00000523759.5:n.591T>A
NM_000202.6:c.477T>A NP_000193.1:p.His159Gln
NM_001166550.2:c.207T>A NP_001160022.1:p.His69Gln
NM_006123.4:c.477T>A NP_006114.1:p.His159Gln
NR_104128.1:n.694T>A
NM_000202.7:c.477T>A NP_000193.1:p.His159Gln
NM_001166550.3:c.207T>A NP_001160022.1:p.His69Gln
NM_000202.8:c.477T>A MANE Select NP_000193.1:p.His159Gln
NM_001166550.4:c.207T>A NP_001160022.1:p.His69Gln
NM_006123.5:c.477T>A NP_006114.1:p.His159Gln
NR_104128.2:n.646T>A