Canonical Allele Identifier: CA519174336
Gene: IDS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.149483211T>C , CM000685.2:g.149483211T>C GRCh38
NC_000023.10:g.148564742T>C , CM000685.1:g.148564742T>C GRCh37
NC_000023.9:g.148372647T>C NCBI36
NG_011900.3:g.27124A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000340855.11:c.1188A>G MANE Select ENSP00000339801.6:p.Gln396=
ENST00000651111.1:c.555A>G ENSP00000498395.1:p.Gln185=
ENST00000340855.10:c.1188A>G ENSP00000339801.6:p.Gln396=
ENST00000422081.6:c.555A>G ENSP00000477056.1:p.Gln185=
ENST00000441880.1:n.295A>G
NM_000202.6:c.1188A>G NP_000193.1:p.Gln396=
NM_001166550.2:c.918A>G NP_001160022.1:p.Gln306=
NM_000202.7:c.1188A>G NP_000193.1:p.Gln396=
NM_001166550.3:c.918A>G NP_001160022.1:p.Gln306=
NM_000202.8:c.1188A>G MANE Select NP_000193.1:p.Gln396=
NM_001166550.4:c.918A>G NP_001160022.1:p.Gln306=