Canonical Allele Identifier: CA2697544790

Gene: IDS

Linked Data

• ClinVar Variation Id: 2755270
• ClinVar RCV Id: RCV003510019

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149490305A>G , CM000685.2:g.149490305A>G	GRCh38
NC_000023.10:g.148571836A>G , CM000685.1:g.148571836A>G	GRCh37
NC_000023.9:g.148379741A>G	NCBI36
NG_011900.3:g.20030T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000340855.11:c.1006+9T>C MANE Select	ENSP00000339801.6:n.1006+9T>C
ENST00000651111.1:c.373+9T>C	ENSP00000498395.1:n.373+9T>C
ENST00000340855.10:c.1006+9T>C	ENSP00000339801.6:n.1006+9T>C
ENST00000370441.8:c.1006+9T>C	ENSP00000359470.4:n.1006+9T>C
ENST00000422081.6:c.373+9T>C	ENSP00000477056.1:n.373+9T>C
ENST00000441880.1:n.114-3207T>C
ENST00000464251.5:c.932+9T>C	ENSP00000428980.1:n.932+9T>C
ENST00000466323.5:c.*197+9T>C	ENSP00000418264.1:n.*197+9T>C
ENST00000490775.5:n.791+9T>C
NM_000202.6:c.1006+9T>C	NP_000193.1:n.1006+9T>C
NM_001166550.2:c.736+9T>C	NP_001160022.1:n.736+9T>C
NM_006123.4:c.1006+9T>C	NP_006114.1:n.1006+9T>C
NR_104128.1:n.1353+9T>C
NM_000202.7:c.1006+9T>C	NP_000193.1:n.1006+9T>C
NM_001166550.3:c.736+9T>C	NP_001160022.1:n.736+9T>C
NM_000202.8:c.1006+9T>C MANE Select	NP_000193.1:n.1006+9T>C
NM_001166550.4:c.736+9T>C	NP_001160022.1:n.736+9T>C
NM_006123.5:c.1006+9T>C	NP_006114.1:n.1006+9T>C
NR_104128.2:n.1305+9T>C