Canonical Allele Identifier: CA414521898

Gene: IDS

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149496419T>C , CM000685.2:g.149496419T>C	GRCh38
NC_000023.10:g.148577950T>C , CM000685.1:g.148577950T>C	GRCh37
NC_000023.9:g.148385855T>C	NCBI36
NG_011900.3:g.13916A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.806A>G MANE Select	ENSP00000339801.6:p.Asp269Gly
ENST00000651111.1:c.173A>G	ENSP00000498395.1:p.Asp58Gly
ENST00000340855.10:c.806A>G	ENSP00000339801.6:p.Asp269Gly
ENST00000370441.8:c.806A>G	ENSP00000359470.4:p.Asp269Gly
ENST00000422081.6:c.173A>G	ENSP00000477056.1:p.Asp58Gly
ENST00000441880.1:n.114-9321A>G
ENST00000464251.5:c.732A>G	ENSP00000428980.1:n.732A>G
ENST00000466019.1:n.258A>G
ENST00000466323.5:c.806A>G	ENSP00000418264.1:p.Asp269Gly
ENST00000490775.5:n.591A>G
NM_000202.6:c.806A>G	NP_000193.1:p.Asp269Gly
NM_001166550.2:c.536A>G	NP_001160022.1:p.Asp179Gly
NM_006123.4:c.806A>G	NP_006114.1:p.Asp269Gly
NR_104128.1:n.1023A>G
NM_000202.7:c.806A>G	NP_000193.1:p.Asp269Gly
NM_001166550.3:c.536A>G	NP_001160022.1:p.Asp179Gly
NM_000202.8:c.806A>G MANE Select	NP_000193.1:p.Asp269Gly
NM_001166550.4:c.536A>G	NP_001160022.1:p.Asp179Gly
NM_006123.5:c.806A>G	NP_006114.1:p.Asp269Gly
NR_104128.2:n.975A>G