Canonical Allele Identifier: CA414518336
Gene: IDS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.149483076A>C , CM000685.2:g.149483076A>C GRCh38
NC_000023.10:g.148564607A>C , CM000685.1:g.148564607A>C GRCh37
NC_000023.9:g.148372512A>C NCBI36
NG_011900.3:g.27259T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000340855.11:c.1323T>G MANE Select ENSP00000339801.6:p.His441Gln
ENST00000651111.1:c.690T>G ENSP00000498395.1:p.His230Gln
ENST00000340855.10:c.1323T>G ENSP00000339801.6:p.His441Gln
ENST00000422081.6:c.690T>G ENSP00000477056.1:p.His230Gln
NM_000202.6:c.1323T>G NP_000193.1:p.His441Gln
NM_001166550.2:c.1053T>G NP_001160022.1:p.His351Gln
NM_000202.7:c.1323T>G NP_000193.1:p.His441Gln
NM_001166550.3:c.1053T>G NP_001160022.1:p.His351Gln
NM_000202.8:c.1323T>G MANE Select NP_000193.1:p.His441Gln
NM_001166550.4:c.1053T>G NP_001160022.1:p.His351Gln