Canonical Allele Identifier: CA414519052
Gene: IDS HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000340855.11:c.1007-190A>C MANE Select ENSP00000339801.6:n.1007-190A>C
ENST00000651111.1:c.374-190A>C ENSP00000498395.1:n.374-190A>C
ENST00000340855.10:c.1007-190A>C ENSP00000339801.6:n.1007-190A>C
ENST00000370441.8:c.1032A>C ENSP00000359470.4:p.Ter344Cys
ENST00000422081.6:c.374-190A>C ENSP00000477056.1:n.374-190A>C
ENST00000441880.1:n.114-190A>C
ENST00000464251.5:c.958A>C ENSP00000428980.1:n.958A>C
ENST00000466323.5:c.*223A>C ENSP00000418264.1:n.*223A>C
ENST00000490775.5:n.817A>C
NM_000202.6:c.1007-190A>C NP_000193.1:n.1007-190A>C
NM_001166550.2:c.737-190A>C NP_001160022.1:n.737-190A>C
NM_006123.4:c.1032A>C NP_006114.1:p.Ter344Cys
NR_104128.1:n.1379A>C
NM_000202.7:c.1007-190A>C NP_000193.1:n.1007-190A>C
NM_001166550.3:c.737-190A>C NP_001160022.1:n.737-190A>C
NM_000202.8:c.1007-190A>C MANE Select NP_000193.1:n.1007-190A>C
NM_001166550.4:c.737-190A>C NP_001160022.1:n.737-190A>C
NM_006123.5:c.1032A>C NP_006114.1:p.Ter344Cys
NR_104128.2:n.1331A>C