Canonical Allele Identifier: CA2694898457

Gene: IDS

Linked Data

• ClinVar Variation Id: 2897842
• ClinVar RCV Id: RCV003621995
• gnomAD v4: X-149501040-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149501040T>C , CM000685.2:g.149501040T>C	GRCh38
NC_000023.10:g.148582571T>C , CM000685.1:g.148582571T>C	GRCh37
NC_000023.9:g.148390476T>C	NCBI36
NG_011900.3:g.9295A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.419-3A>G MANE Select	ENSP00000339801.6:n.419-3A>G
ENST00000651111.1:c.-215-3A>G	ENSP00000498395.1:n.-215-3A>G
ENST00000340855.10:c.419-3A>G	ENSP00000339801.6:n.419-3A>G
ENST00000370441.8:c.419-3A>G	ENSP00000359470.4:n.419-3A>G
ENST00000422081.6:c.-215-3A>G	ENSP00000477056.1:n.-215-3A>G
ENST00000441880.1:n.114-13942A>G
ENST00000464251.5:c.345-3A>G	ENSP00000428980.1:n.345-3A>G
ENST00000466323.5:c.419-3A>G	ENSP00000418264.1:n.419-3A>G
ENST00000490775.5:n.78-3A>G
ENST00000523759.5:n.533-3A>G
NM_000202.6:c.419-3A>G	NP_000193.1:n.419-3A>G
NM_001166550.2:c.149-3A>G	NP_001160022.1:n.149-3A>G
NM_006123.4:c.419-3A>G	NP_006114.1:n.419-3A>G
NR_104128.1:n.636-3A>G
NM_000202.7:c.419-3A>G	NP_000193.1:n.419-3A>G
NM_001166550.3:c.149-3A>G	NP_001160022.1:n.149-3A>G
NM_000202.8:c.419-3A>G MANE Select	NP_000193.1:n.419-3A>G
NM_001166550.4:c.149-3A>G	NP_001160022.1:n.149-3A>G
NM_006123.5:c.419-3A>G	NP_006114.1:n.419-3A>G
NR_104128.2:n.588-3A>G