Canonical Allele Identifier: CA2694898424

Gene: IDS

Linked Data

• gnomAD v4: X-149500884-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149500884C>A , CM000685.2:g.149500884C>A	GRCh38
NC_000023.10:g.148582415C>A , CM000685.1:g.148582415C>A	GRCh37
NC_000023.9:g.148390320C>A	NCBI36
NG_011900.3:g.9451G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000340855.11:c.507+65G>T MANE Select	ENSP00000339801.6:n.507+65G>T
ENST00000651111.1:c.-127+65G>T	ENSP00000498395.1:n.-127+65G>T
ENST00000340855.10:c.507+65G>T	ENSP00000339801.6:n.507+65G>T
ENST00000370441.8:c.507+65G>T	ENSP00000359470.4:n.507+65G>T
ENST00000422081.6:c.-127+65G>T	ENSP00000477056.1:n.-127+65G>T
ENST00000441880.1:n.114-13786G>T
ENST00000464251.5:c.433+65G>T	ENSP00000428980.1:n.433+65G>T
ENST00000466323.5:c.507+65G>T	ENSP00000418264.1:n.507+65G>T
ENST00000490775.5:n.166+65G>T
ENST00000523759.5:n.621+65G>T
NM_000202.6:c.507+65G>T	NP_000193.1:n.507+65G>T
NM_001166550.2:c.237+65G>T	NP_001160022.1:n.237+65G>T
NM_006123.4:c.507+65G>T	NP_006114.1:n.507+65G>T
NR_104128.1:n.724+65G>T
NM_000202.7:c.507+65G>T	NP_000193.1:n.507+65G>T
NM_001166550.3:c.237+65G>T	NP_001160022.1:n.237+65G>T
NM_000202.8:c.507+65G>T MANE Select	NP_000193.1:n.507+65G>T
NM_001166550.4:c.237+65G>T	NP_001160022.1:n.237+65G>T
NM_006123.5:c.507+65G>T	NP_006114.1:n.507+65G>T
NR_104128.2:n.676+65G>T