Canonical Allele Identifier: CA121099
Gene: IDS HGNC NCBI

Linked Data

ClinVar Variation Id: 10500
ClinVar RCV Id: RCV000011246
dbSNP Id: rs113993946

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.149482996C>A , CM000685.2:g.149482996C>A GRCh38
NC_000023.10:g.148564527C>A , CM000685.1:g.148564527C>A GRCh37
NC_000023.9:g.148372432C>A NCBI36
NG_011900.3:g.27339G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000340855.11:c.1403G>T MANE Select ENSP00000339801.6:p.Arg468Leu
ENST00000651111.1:c.770G>T ENSP00000498395.1:p.Arg257Leu
ENST00000340855.10:c.1403G>T ENSP00000339801.6:p.Arg468Leu
ENST00000422081.6:c.770G>T ENSP00000477056.1:p.Arg257Leu
NM_000202.6:c.1403G>T NP_000193.1:p.Arg468Leu
NM_001166550.2:c.1133G>T NP_001160022.1:p.Arg378Leu
NM_000202.7:c.1403G>T NP_000193.1:p.Arg468Leu
NM_001166550.3:c.1133G>T NP_001160022.1:p.Arg378Leu
NM_000202.8:c.1403G>T MANE Select NP_000193.1:p.Arg468Leu
NM_001166550.4:c.1133G>T NP_001160022.1:p.Arg378Leu