Canonical Allele Identifier: CA414527810
Gene: IDS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.149504266A>C , CM000685.2:g.149504266A>C GRCh38
NC_000023.10:g.148585796A>C , CM000685.1:g.148585796A>C GRCh37
NC_000023.9:g.148393700A>C NCBI36
NG_011900.3:g.6069T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000340855.11:c.131T>G MANE Select ENSP00000339801.6:p.Val44Gly
ENST00000651111.1:c.-215-3229T>G ENSP00000498395.1:n.-215-3229T>G
ENST00000340855.10:c.131T>G ENSP00000339801.6:p.Val44Gly
ENST00000370441.8:c.131T>G ENSP00000359470.4:p.Val44Gly
ENST00000422081.6:c.-215-3229T>G ENSP00000477056.1:n.-215-3229T>G
ENST00000427113.2:n.770-2043T>G
ENST00000428056.6:c.131T>G ENSP00000390241.2:p.Val44Gly
ENST00000441880.1:n.114-17168T>G
ENST00000466323.5:c.131T>G ENSP00000418264.1:p.Val44Gly
ENST00000521702.1:c.131T>G ENSP00000429745.1:p.Val44Gly
ENST00000523759.5:n.533-3229T>G
NM_000202.6:c.131T>G NP_000193.1:p.Val44Gly
NM_001166550.2:c.-96T>G NP_001160022.1:n.-96T>G
NM_006123.4:c.131T>G NP_006114.1:p.Val44Gly
NR_104128.1:n.348T>G
NM_000202.7:c.131T>G NP_000193.1:p.Val44Gly
NM_001166550.3:c.-96T>G NP_001160022.1:n.-96T>G
NM_000202.8:c.131T>G MANE Select NP_000193.1:p.Val44Gly
NM_001166550.4:c.-96T>G NP_001160022.1:n.-96T>G
NM_006123.5:c.131T>G NP_006114.1:p.Val44Gly
NR_104128.2:n.300T>G