Canonical Allele Identifier: CA2694909082
Gene: IDS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.149487140A>C , CM000685.2:g.149487140A>C GRCh38
NC_000023.10:g.148568671A>C , CM000685.1:g.148568671A>C GRCh37
NC_000023.9:g.148376576A>C NCBI36
NG_011900.3:g.23195T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000340855.11:c.1007-42T>G MANE Select ENSP00000339801.6:n.1007-42T>G
ENST00000651111.1:c.374-42T>G ENSP00000498395.1:n.374-42T>G
ENST00000340855.10:c.1007-42T>G ENSP00000339801.6:n.1007-42T>G
ENST00000370441.8:c.*148T>G ENSP00000359470.4:n.*148T>G
ENST00000422081.6:c.374-42T>G ENSP00000477056.1:n.374-42T>G
ENST00000441880.1:n.114-42T>G
ENST00000466323.5:c.*371T>G ENSP00000418264.1:n.*371T>G
NM_000202.6:c.1007-42T>G NP_000193.1:n.1007-42T>G
NM_001166550.2:c.737-42T>G NP_001160022.1:n.737-42T>G
NM_006123.4:c.*148T>G NP_006114.1:n.*148T>G
NR_104128.1:n.1527T>G
NM_000202.7:c.1007-42T>G NP_000193.1:n.1007-42T>G
NM_001166550.3:c.737-42T>G NP_001160022.1:n.737-42T>G
NM_000202.8:c.1007-42T>G MANE Select NP_000193.1:n.1007-42T>G
NM_001166550.4:c.737-42T>G NP_001160022.1:n.737-42T>G
NM_006123.5:c.*148T>G NP_006114.1:n.*148T>G
NR_104128.2:n.1479T>G