Canonical Allele Identifier: CA10537600

Gene: IDS

Linked Data

• dbSNP Id: rs782773319
• ExAC: X:148577979 T / C
• gnomAD v2: X-148577979-T-C
• gnomAD v4: X-149496448-T-C
• MyVariant Identifiers: chrX:g.148577979T>C (hg19) ; chrX:g.149496448T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149496448T>C , CM000685.2:g.149496448T>C	GRCh38
NC_000023.10:g.148577979T>C , CM000685.1:g.148577979T>C	GRCh37
NC_000023.9:g.148385884T>C	NCBI36
NG_011900.3:g.13887A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.777A>G MANE Select	ENSP00000339801.6:p.Leu259=
ENST00000651111.1:c.144A>G	ENSP00000498395.1:p.Leu48=
ENST00000340855.10:c.777A>G	ENSP00000339801.6:p.Leu259=
ENST00000370441.8:c.777A>G	ENSP00000359470.4:p.Leu259=
ENST00000422081.6:c.144A>G	ENSP00000477056.1:p.Leu48=
ENST00000441880.1:n.114-9350A>G
ENST00000464251.5:c.703A>G	ENSP00000428980.1:n.703A>G
ENST00000466019.1:n.229A>G
ENST00000466323.5:c.777A>G	ENSP00000418264.1:p.Leu259=
ENST00000490775.5:n.562A>G
NM_000202.6:c.777A>G	NP_000193.1:p.Leu259=
NM_001166550.2:c.507A>G	NP_001160022.1:p.Leu169=
NM_006123.4:c.777A>G	NP_006114.1:p.Leu259=
NR_104128.1:n.994A>G
NM_000202.7:c.777A>G	NP_000193.1:p.Leu259=
NM_001166550.3:c.507A>G	NP_001160022.1:p.Leu169=
NM_000202.8:c.777A>G MANE Select	NP_000193.1:p.Leu259=
NM_001166550.4:c.507A>G	NP_001160022.1:p.Leu169=
NM_006123.5:c.777A>G	NP_006114.1:p.Leu259=
NR_104128.2:n.946A>G