Canonical Allele Identifier: CA414520452
Gene: IDS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.149490423G>C , CM000685.2:g.149490423G>C GRCh38
NC_000023.10:g.148571954G>C , CM000685.1:g.148571954G>C GRCh37
NC_000023.9:g.148379859G>C NCBI36
NG_011900.3:g.19912C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000340855.11:c.897C>G MANE Select ENSP00000339801.6:p.Ser299Arg
ENST00000651111.1:c.264C>G ENSP00000498395.1:p.Ser88Arg
ENST00000340855.10:c.897C>G ENSP00000339801.6:p.Ser299Arg
ENST00000370441.8:c.897C>G ENSP00000359470.4:p.Ser299Arg
ENST00000422081.6:c.264C>G ENSP00000477056.1:p.Ser88Arg
ENST00000441880.1:n.114-3325C>G
ENST00000464251.5:c.823C>G ENSP00000428980.1:n.823C>G
ENST00000466323.5:c.*88C>G ENSP00000418264.1:n.*88C>G
ENST00000490775.5:n.682C>G
NM_000202.6:c.897C>G NP_000193.1:p.Ser299Arg
NM_001166550.2:c.627C>G NP_001160022.1:p.Ser209Arg
NM_006123.4:c.897C>G NP_006114.1:p.Ser299Arg
NR_104128.1:n.1244C>G
NM_000202.7:c.897C>G NP_000193.1:p.Ser299Arg
NM_001166550.3:c.627C>G NP_001160022.1:p.Ser209Arg
NM_000202.8:c.897C>G MANE Select NP_000193.1:p.Ser299Arg
NM_001166550.4:c.627C>G NP_001160022.1:p.Ser209Arg
NM_006123.5:c.897C>G NP_006114.1:p.Ser299Arg
NR_104128.2:n.1196C>G