Canonical Allele Identifier: CA356490
Gene: IDS HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs104894862

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.149482935C>A , CM000685.2:g.149482935C>A GRCh38
NC_000023.10:g.148564466C>A , CM000685.1:g.148564466C>A GRCh37
NC_000023.9:g.148372371C>A NCBI36
NG_011900.3:g.27400G>T

Transcript Alleles

HGVS Amino-acid change
NM_000202.6:c.1464G>T VV NP_000193.1:p.Met488Ile
NM_001166550.2:c.1194G>T VV NP_001160022.1:p.Met398Ile
NM_000202.7:c.1464G>T VV
NM_001166550.3:c.1194G>T VV
ENST00000340855.10:c.1464G>T ENSP00000339801.6:p.Met488Ile
ENST00000422081.6:c.831G>T ENSP00000477056.1:p.Met277Ile