Canonical Allele Identifier: CA414519053
Gene: IDS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.149487288T>C , CM000685.2:g.149487288T>C GRCh38
NC_000023.10:g.148568819T>C , CM000685.1:g.148568819T>C GRCh37
NC_000023.9:g.148376724T>C NCBI36
NG_011900.3:g.23047A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000340855.11:c.1007-190A>G MANE Select ENSP00000339801.6:n.1007-190A>G
ENST00000651111.1:c.374-190A>G ENSP00000498395.1:n.374-190A>G
ENST00000340855.10:c.1007-190A>G ENSP00000339801.6:n.1007-190A>G
ENST00000370441.8:c.1032A>G ENSP00000359470.4:p.Ter344Trp
ENST00000422081.6:c.374-190A>G ENSP00000477056.1:n.374-190A>G
ENST00000441880.1:n.114-190A>G
ENST00000464251.5:c.958A>G ENSP00000428980.1:n.958A>G
ENST00000466323.5:c.*223A>G ENSP00000418264.1:n.*223A>G
ENST00000490775.5:n.817A>G
NM_000202.6:c.1007-190A>G NP_000193.1:n.1007-190A>G
NM_001166550.2:c.737-190A>G NP_001160022.1:n.737-190A>G
NM_006123.4:c.1032A>G NP_006114.1:p.Ter344Trp
NR_104128.1:n.1379A>G
NM_000202.7:c.1007-190A>G NP_000193.1:n.1007-190A>G
NM_001166550.3:c.737-190A>G NP_001160022.1:n.737-190A>G
NM_000202.8:c.1007-190A>G MANE Select NP_000193.1:n.1007-190A>G
NM_001166550.4:c.737-190A>G NP_001160022.1:n.737-190A>G
NM_006123.5:c.1032A>G NP_006114.1:p.Ter344Trp
NR_104128.2:n.1331A>G