Canonical Allele Identifier: CA2740090221

Gene: IDS

Linked Data

• ClinVar Variation Id: 2995484
• ClinVar RCV Id: RCV003851091

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149490295G>C , CM000685.2:g.149490295G>C	GRCh38
NC_000023.10:g.148571826G>C , CM000685.1:g.148571826G>C	GRCh37
NC_000023.9:g.148379731G>C	NCBI36
NG_011900.3:g.20040C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000340855.11:c.1006+19C>G MANE Select	ENSP00000339801.6:n.1006+19C>G
ENST00000651111.1:c.373+19C>G	ENSP00000498395.1:n.373+19C>G
ENST00000340855.10:c.1006+19C>G	ENSP00000339801.6:n.1006+19C>G
ENST00000370441.8:c.1006+19C>G	ENSP00000359470.4:n.1006+19C>G
ENST00000422081.6:c.373+19C>G	ENSP00000477056.1:n.373+19C>G
ENST00000441880.1:n.114-3197C>G
ENST00000464251.5:c.932+19C>G	ENSP00000428980.1:n.932+19C>G
ENST00000466323.5:c.*197+19C>G	ENSP00000418264.1:n.*197+19C>G
ENST00000490775.5:n.791+19C>G
NM_000202.6:c.1006+19C>G	NP_000193.1:n.1006+19C>G
NM_001166550.2:c.736+19C>G	NP_001160022.1:n.736+19C>G
NM_006123.4:c.1006+19C>G	NP_006114.1:n.1006+19C>G
NR_104128.1:n.1353+19C>G
NM_000202.7:c.1006+19C>G	NP_000193.1:n.1006+19C>G
NM_001166550.3:c.736+19C>G	NP_001160022.1:n.736+19C>G
NM_000202.8:c.1006+19C>G MANE Select	NP_000193.1:n.1006+19C>G
NM_001166550.4:c.736+19C>G	NP_001160022.1:n.736+19C>G
NM_006123.5:c.1006+19C>G	NP_006114.1:n.1006+19C>G
NR_104128.2:n.1305+19C>G