Canonical Allele Identifier: CA414526479
Gene: IDS HGNC NCBI

Linked Data

ClinVar Variation Id: 558998
dbSNP Id: rs1174495581

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.149503421G>C , CM000685.2:g.149503421G>C GRCh38
NC_000023.10:g.148584951G>C , CM000685.1:g.148584951G>C GRCh37
NC_000023.9:g.148392856G>C NCBI36
NG_011900.3:g.6914C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000340855.11:c.309C>G MANE Select ENSP00000339801.6:p.Tyr103Ter
ENST00000651111.1:c.-215-2384C>G ENSP00000498395.1:n.-215-2384C>G
ENST00000340855.10:c.309C>G ENSP00000339801.6:p.Tyr103Ter
ENST00000370441.8:c.309C>G ENSP00000359470.4:p.Tyr103Ter
ENST00000422081.6:c.-215-2384C>G ENSP00000477056.1:n.-215-2384C>G
ENST00000427113.2:n.770-1198C>G
ENST00000428056.6:c.309C>G ENSP00000390241.2:p.Tyr103Ter
ENST00000441880.1:n.114-16323C>G
ENST00000464251.5:c.132C>G ENSP00000428980.1:p.Tyr44Ter
ENST00000466323.5:c.309C>G ENSP00000418264.1:p.Tyr103Ter
ENST00000523759.5:n.533-2384C>G
NM_000202.6:c.309C>G NP_000193.1:p.Tyr103Ter
NM_001166550.2:c.39C>G NP_001160022.1:p.Tyr13Ter
NM_006123.4:c.309C>G NP_006114.1:p.Tyr103Ter
NR_104128.1:n.526C>G
NM_000202.7:c.309C>G NP_000193.1:p.Tyr103Ter
NM_001166550.3:c.39C>G NP_001160022.1:p.Tyr13Ter
NM_000202.8:c.309C>G MANE Select NP_000193.1:p.Tyr103Ter
NM_001166550.4:c.39C>G NP_001160022.1:p.Tyr13Ter
NM_006123.5:c.309C>G NP_006114.1:p.Tyr103Ter
NR_104128.2:n.478C>G