Canonical Allele Identifier: CA414517995
Gene: IDS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.149482918G>A , CM000685.2:g.149482918G>A GRCh38
NC_000023.10:g.148564449G>A , CM000685.1:g.148564449G>A GRCh37
NC_000023.9:g.148372354G>A NCBI36
NG_011900.3:g.27417C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000340855.11:c.1481C>T MANE Select ENSP00000339801.6:p.Thr494Ile
ENST00000651111.1:c.848C>T ENSP00000498395.1:p.Thr283Ile
ENST00000340855.10:c.1481C>T ENSP00000339801.6:p.Thr494Ile
ENST00000422081.6:c.848C>T ENSP00000477056.1:p.Thr283Ile
NM_000202.6:c.1481C>T NP_000193.1:p.Thr494Ile
NM_001166550.2:c.1211C>T NP_001160022.1:p.Thr404Ile
NM_000202.7:c.1481C>T NP_000193.1:p.Thr494Ile
NM_001166550.3:c.1211C>T NP_001160022.1:p.Thr404Ile
NM_000202.8:c.1481C>T MANE Select NP_000193.1:p.Thr494Ile
NM_001166550.4:c.1211C>T NP_001160022.1:p.Thr404Ile