Canonical Allele Identifier: CA414518334
Gene: IDS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.149483075A>G , CM000685.2:g.149483075A>G GRCh38
NC_000023.10:g.148564606A>G , CM000685.1:g.148564606A>G GRCh37
NC_000023.9:g.148372511A>G NCBI36
NG_011900.3:g.27260T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000340855.11:c.1324T>C MANE Select ENSP00000339801.6:p.Phe442Leu
ENST00000651111.1:c.691T>C ENSP00000498395.1:p.Phe231Leu
ENST00000340855.10:c.1324T>C ENSP00000339801.6:p.Phe442Leu
ENST00000422081.6:c.691T>C ENSP00000477056.1:p.Phe231Leu
NM_000202.6:c.1324T>C NP_000193.1:p.Phe442Leu
NM_001166550.2:c.1054T>C NP_001160022.1:p.Phe352Leu
NM_000202.7:c.1324T>C NP_000193.1:p.Phe442Leu
NM_001166550.3:c.1054T>C NP_001160022.1:p.Phe352Leu
NM_000202.8:c.1324T>C MANE Select NP_000193.1:p.Phe442Leu
NM_001166550.4:c.1054T>C NP_001160022.1:p.Phe352Leu