Canonical Allele Identifier: CA414519951
Gene: IDS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.149490337A>C , CM000685.2:g.149490337A>C GRCh38
NC_000023.10:g.148571868A>C , CM000685.1:g.148571868A>C GRCh37
NC_000023.9:g.148379773A>C NCBI36
NG_011900.3:g.19998T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000340855.11:c.983T>G MANE Select ENSP00000339801.6:p.Ile328Ser
ENST00000651111.1:c.350T>G ENSP00000498395.1:p.Ile117Ser
ENST00000340855.10:c.983T>G ENSP00000339801.6:p.Ile328Ser
ENST00000370441.8:c.983T>G ENSP00000359470.4:p.Ile328Ser
ENST00000422081.6:c.350T>G ENSP00000477056.1:p.Ile117Ser
ENST00000441880.1:n.114-3239T>G
ENST00000464251.5:c.909T>G ENSP00000428980.1:n.909T>G
ENST00000466323.5:c.*174T>G ENSP00000418264.1:n.*174T>G
ENST00000490775.5:n.768T>G
NM_000202.6:c.983T>G NP_000193.1:p.Ile328Ser
NM_001166550.2:c.713T>G NP_001160022.1:p.Ile238Ser
NM_006123.4:c.983T>G NP_006114.1:p.Ile328Ser
NR_104128.1:n.1330T>G
NM_000202.7:c.983T>G NP_000193.1:p.Ile328Ser
NM_001166550.3:c.713T>G NP_001160022.1:p.Ile238Ser
NM_000202.8:c.983T>G MANE Select NP_000193.1:p.Ile328Ser
NM_001166550.4:c.713T>G NP_001160022.1:p.Ile238Ser
NM_006123.5:c.983T>G NP_006114.1:p.Ile328Ser
NR_104128.2:n.1282T>G