Canonical Allele Identifier: CA414518352
Gene: IDS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.149483083A>C , CM000685.2:g.149483083A>C GRCh38
NC_000023.10:g.148564614A>C , CM000685.1:g.148564614A>C GRCh37
NC_000023.9:g.148372519A>C NCBI36
NG_011900.3:g.27252T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000340855.11:c.1316T>G MANE Select ENSP00000339801.6:p.Leu439Arg
ENST00000651111.1:c.683T>G ENSP00000498395.1:p.Leu228Arg
ENST00000340855.10:c.1316T>G ENSP00000339801.6:p.Leu439Arg
ENST00000422081.6:c.683T>G ENSP00000477056.1:p.Leu228Arg
NM_000202.6:c.1316T>G NP_000193.1:p.Leu439Arg
NM_001166550.2:c.1046T>G NP_001160022.1:p.Leu349Arg
NM_000202.7:c.1316T>G NP_000193.1:p.Leu439Arg
NM_001166550.3:c.1046T>G NP_001160022.1:p.Leu349Arg
NM_000202.8:c.1316T>G MANE Select NP_000193.1:p.Leu439Arg
NM_001166550.4:c.1046T>G NP_001160022.1:p.Leu349Arg