Canonical Allele Identifier: CA414522993
Gene: IDS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.149500966T>G , CM000685.2:g.149500966T>G GRCh38
NC_000023.10:g.148582497T>G , CM000685.1:g.148582497T>G GRCh37
NC_000023.9:g.148390402T>G NCBI36
NG_011900.3:g.9369A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000340855.11:c.490A>C MANE Select ENSP00000339801.6:p.Lys164Gln
ENST00000651111.1:c.-144A>C ENSP00000498395.1:n.-144A>C
ENST00000340855.10:c.490A>C ENSP00000339801.6:p.Lys164Gln
ENST00000370441.8:c.490A>C ENSP00000359470.4:p.Lys164Gln
ENST00000422081.6:c.-144A>C ENSP00000477056.1:n.-144A>C
ENST00000441880.1:n.114-13868A>C
ENST00000464251.5:c.416A>C ENSP00000428980.1:n.416A>C
ENST00000466323.5:c.490A>C ENSP00000418264.1:p.Lys164Gln
ENST00000490775.5:n.149A>C
ENST00000523759.5:n.604A>C
NM_000202.6:c.490A>C NP_000193.1:p.Lys164Gln
NM_001166550.2:c.220A>C NP_001160022.1:p.Lys74Gln
NM_006123.4:c.490A>C NP_006114.1:p.Lys164Gln
NR_104128.1:n.707A>C
NM_000202.7:c.490A>C NP_000193.1:p.Lys164Gln
NM_001166550.3:c.220A>C NP_001160022.1:p.Lys74Gln
NM_000202.8:c.490A>C MANE Select NP_000193.1:p.Lys164Gln
NM_001166550.4:c.220A>C NP_001160022.1:p.Lys74Gln
NM_006123.5:c.490A>C NP_006114.1:p.Lys164Gln
NR_104128.2:n.659A>C