Canonical Allele Identifier: CA414522217
Gene: IDS HGNC NCBI

Linked Data

ClinVar Variation Id: 2430992
ClinVar RCV Id: RCV003129525

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.149498148C>A , CM000685.2:g.149498148C>A GRCh38
NC_000023.10:g.148579679C>A , CM000685.1:g.148579679C>A GRCh37
NC_000023.9:g.148387584C>A NCBI36
NG_011900.3:g.12187G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000340855.11:c.667G>T MANE Select ENSP00000339801.6:p.Val223Phe
ENST00000651111.1:c.34G>T ENSP00000498395.1:p.Val12Phe
ENST00000340855.10:c.667G>T ENSP00000339801.6:p.Val223Phe
ENST00000370441.8:c.667G>T ENSP00000359470.4:p.Val223Phe
ENST00000422081.6:c.34G>T ENSP00000477056.1:p.Val12Phe
ENST00000441880.1:n.114-11050G>T
ENST00000464251.5:c.593G>T ENSP00000428980.1:n.593G>T
ENST00000466019.1:n.119G>T
ENST00000466323.5:c.667G>T ENSP00000418264.1:p.Val223Phe
ENST00000490775.5:n.452G>T
NM_000202.6:c.667G>T NP_000193.1:p.Val223Phe
NM_001166550.2:c.397G>T NP_001160022.1:p.Val133Phe
NM_006123.4:c.667G>T NP_006114.1:p.Val223Phe
NR_104128.1:n.884G>T
NM_000202.7:c.667G>T NP_000193.1:p.Val223Phe
NM_001166550.3:c.397G>T NP_001160022.1:p.Val133Phe
NM_000202.8:c.667G>T MANE Select NP_000193.1:p.Val223Phe
NM_001166550.4:c.397G>T NP_001160022.1:p.Val133Phe
NM_006123.5:c.667G>T NP_006114.1:p.Val223Phe
NR_104128.2:n.836G>T