Canonical Allele Identifier: CA414519899
Gene: IDS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.149490329A>T , CM000685.2:g.149490329A>T GRCh38
NC_000023.10:g.148571860A>T , CM000685.1:g.148571860A>T GRCh37
NC_000023.9:g.148379765A>T NCBI36
NG_011900.3:g.20006T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000340855.11:c.991T>A MANE Select ENSP00000339801.6:p.Phe331Ile
ENST00000651111.1:c.358T>A ENSP00000498395.1:p.Phe120Ile
ENST00000340855.10:c.991T>A ENSP00000339801.6:p.Phe331Ile
ENST00000370441.8:c.991T>A ENSP00000359470.4:p.Phe331Ile
ENST00000422081.6:c.358T>A ENSP00000477056.1:p.Phe120Ile
ENST00000441880.1:n.114-3231T>A
ENST00000464251.5:c.917T>A ENSP00000428980.1:n.917T>A
ENST00000466323.5:c.*182T>A ENSP00000418264.1:n.*182T>A
ENST00000490775.5:n.776T>A
NM_000202.6:c.991T>A NP_000193.1:p.Phe331Ile
NM_001166550.2:c.721T>A NP_001160022.1:p.Phe241Ile
NM_006123.4:c.991T>A NP_006114.1:p.Phe331Ile
NR_104128.1:n.1338T>A
NM_000202.7:c.991T>A NP_000193.1:p.Phe331Ile
NM_001166550.3:c.721T>A NP_001160022.1:p.Phe241Ile
NM_000202.8:c.991T>A MANE Select NP_000193.1:p.Phe331Ile
NM_001166550.4:c.721T>A NP_001160022.1:p.Phe241Ile
NM_006123.5:c.991T>A NP_006114.1:p.Phe331Ile
NR_104128.2:n.1290T>A