Canonical Allele Identifier: CA414519006
Gene: IDS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.149487081G>C , CM000685.2:g.149487081G>C GRCh38
NC_000023.10:g.148568612G>C , CM000685.1:g.148568612G>C GRCh37
NC_000023.9:g.148376517G>C NCBI36
NG_011900.3:g.23254C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000340855.11:c.1024C>G MANE Select ENSP00000339801.6:p.His342Asp
ENST00000651111.1:c.391C>G ENSP00000498395.1:p.His131Asp
ENST00000340855.10:c.1024C>G ENSP00000339801.6:p.His342Asp
ENST00000422081.6:c.391C>G ENSP00000477056.1:p.His131Asp
ENST00000441880.1:n.131C>G
NM_000202.6:c.1024C>G NP_000193.1:p.His342Asp
NM_001166550.2:c.754C>G NP_001160022.1:p.His252Asp
NM_000202.7:c.1024C>G NP_000193.1:p.His342Asp
NM_001166550.3:c.754C>G NP_001160022.1:p.His252Asp
NM_000202.8:c.1024C>G MANE Select NP_000193.1:p.His342Asp
NM_001166550.4:c.754C>G NP_001160022.1:p.His252Asp