Canonical Allele Identifier: CA2499226423

Gene: IDS

Linked Data

• ClinVar Variation Id: 1146333
• ClinVar RCV Id: RCV001485500
• dbSNP Id: rs1889382373
• gnomAD v4: X-149498312-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149498312C>A , CM000685.2:g.149498312C>A	GRCh38
NC_000023.10:g.148579843C>A , CM000685.1:g.148579843C>A	GRCh37
NC_000023.9:g.148387748C>A	NCBI36
NG_011900.3:g.12023G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000340855.11:c.508-5G>T MANE Select	ENSP00000339801.6:n.508-5G>T
ENST00000651111.1:c.-126-5G>T	ENSP00000498395.1:n.-126-5G>T
ENST00000340855.10:c.508-5G>T	ENSP00000339801.6:n.508-5G>T
ENST00000370441.8:c.508-5G>T	ENSP00000359470.4:n.508-5G>T
ENST00000422081.6:c.-126-5G>T	ENSP00000477056.1:n.-126-5G>T
ENST00000441880.1:n.114-11214G>T
ENST00000464251.5:c.434-5G>T	ENSP00000428980.1:n.434-5G>T
ENST00000466323.5:c.508-5G>T	ENSP00000418264.1:n.508-5G>T
ENST00000490775.5:n.293-5G>T
ENST00000523759.5:n.622-5G>T
NM_000202.6:c.508-5G>T	NP_000193.1:n.508-5G>T
NM_001166550.2:c.238-5G>T	NP_001160022.1:n.238-5G>T
NM_006123.4:c.508-5G>T	NP_006114.1:n.508-5G>T
NR_104128.1:n.725-5G>T
NM_000202.7:c.508-5G>T	NP_000193.1:n.508-5G>T
NM_001166550.3:c.238-5G>T	NP_001160022.1:n.238-5G>T
NM_000202.8:c.508-5G>T MANE Select	NP_000193.1:n.508-5G>T
NM_001166550.4:c.238-5G>T	NP_001160022.1:n.238-5G>T
NM_006123.5:c.508-5G>T	NP_006114.1:n.508-5G>T
NR_104128.2:n.677-5G>T