Canonical Allele Identifier: CA414520060

Gene: IDS

Linked Data

• COSMIC: COSM4848580 ; COSM4848581
• MyVariant Identifiers: chrX:g.148571887G>C (hg19) ; chrX:g.149490356G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149490356G>C , CM000685.2:g.149490356G>C	GRCh38
NC_000023.10:g.148571887G>C , CM000685.1:g.148571887G>C	GRCh37
NC_000023.9:g.148379792G>C	NCBI36
NG_011900.3:g.19979C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.964C>G MANE Select	ENSP00000339801.6:p.Gln322Glu
ENST00000651111.1:c.331C>G	ENSP00000498395.1:p.Gln111Glu
ENST00000340855.10:c.964C>G	ENSP00000339801.6:p.Gln322Glu
ENST00000370441.8:c.964C>G	ENSP00000359470.4:p.Gln322Glu
ENST00000422081.6:c.331C>G	ENSP00000477056.1:p.Gln111Glu
ENST00000441880.1:n.114-3258C>G
ENST00000464251.5:c.890C>G	ENSP00000428980.1:n.890C>G
ENST00000466323.5:c.*155C>G	ENSP00000418264.1:n.*155C>G
ENST00000490775.5:n.749C>G
NM_000202.6:c.964C>G	NP_000193.1:p.Gln322Glu
NM_001166550.2:c.694C>G	NP_001160022.1:p.Gln232Glu
NM_006123.4:c.964C>G	NP_006114.1:p.Gln322Glu
NR_104128.1:n.1311C>G
NM_000202.7:c.964C>G	NP_000193.1:p.Gln322Glu
NM_001166550.3:c.694C>G	NP_001160022.1:p.Gln232Glu
NM_000202.8:c.964C>G MANE Select	NP_000193.1:p.Gln322Glu
NM_001166550.4:c.694C>G	NP_001160022.1:p.Gln232Glu
NM_006123.5:c.964C>G	NP_006114.1:p.Gln322Glu
NR_104128.2:n.1263C>G