Canonical Allele Identifier: CA350785
Gene: IDS HGNC NCBI

Linked Data

ClinVar Variation Id: 221205
dbSNP Id: rs113993955

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.149504216A>G , CM000685.2:g.149504216A>G GRCh38
NC_000023.10:g.148585746A>G , CM000685.1:g.148585746A>G GRCh37
NC_000023.9:g.148393650A>G NCBI36
NG_011900.3:g.6119T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000340855.11:c.181T>C MANE Select ENSP00000339801.6:p.Ser61Pro
ENST00000651111.1:c.-215-3179T>C ENSP00000498395.1:n.-215-3179T>C
ENST00000340855.10:c.181T>C ENSP00000339801.6:p.Ser61Pro
ENST00000370441.8:c.181T>C ENSP00000359470.4:p.Ser61Pro
ENST00000422081.6:c.-215-3179T>C ENSP00000477056.1:n.-215-3179T>C
ENST00000427113.2:n.770-1993T>C
ENST00000428056.6:c.181T>C ENSP00000390241.2:p.Ser61Pro
ENST00000441880.1:n.114-17118T>C
ENST00000464251.5:c.4T>C ENSP00000428980.1:p.Ser2Pro
ENST00000466323.5:c.181T>C ENSP00000418264.1:p.Ser61Pro
ENST00000521702.1:c.181T>C ENSP00000429745.1:p.Ser61Pro
ENST00000523759.5:n.533-3179T>C
NM_000202.6:c.181T>C NP_000193.1:p.Ser61Pro
NM_001166550.2:c.-46T>C NP_001160022.1:n.-46T>C
NM_006123.4:c.181T>C NP_006114.1:p.Ser61Pro
NR_104128.1:n.398T>C
NM_000202.7:c.181T>C NP_000193.1:p.Ser61Pro
NM_001166550.3:c.-46T>C NP_001160022.1:n.-46T>C
NM_000202.8:c.181T>C MANE Select NP_000193.1:p.Ser61Pro
NM_001166550.4:c.-46T>C NP_001160022.1:n.-46T>C
NM_006123.5:c.181T>C NP_006114.1:p.Ser61Pro
NR_104128.2:n.350T>C