Canonical Allele Identifier: CA10537633

Gene: IDS

Linked Data

• dbSNP Id: rs782220266
• ExAC: X:148579726 T / C
• gnomAD v2: X-148579726-T-C
• gnomAD v4: X-149498195-T-C
• MyVariant Identifiers: chrX:g.148579726T>C (hg19) ; chrX:g.149498195T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149498195T>C , CM000685.2:g.149498195T>C	GRCh38
NC_000023.10:g.148579726T>C , CM000685.1:g.148579726T>C	GRCh37
NC_000023.9:g.148387631T>C	NCBI36
NG_011900.3:g.12140A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.620A>G MANE Select	ENSP00000339801.6:p.Gln207Arg
ENST00000651111.1:c.-14A>G	ENSP00000498395.1:n.-14A>G
ENST00000340855.10:c.620A>G	ENSP00000339801.6:p.Gln207Arg
ENST00000370441.8:c.620A>G	ENSP00000359470.4:p.Gln207Arg
ENST00000422081.6:c.-14A>G	ENSP00000477056.1:n.-14A>G
ENST00000441880.1:n.114-11097A>G
ENST00000464251.5:c.546A>G	ENSP00000428980.1:n.546A>G
ENST00000466019.1:n.72A>G
ENST00000466323.5:c.620A>G	ENSP00000418264.1:p.Gln207Arg
ENST00000490775.5:n.405A>G
ENST00000523759.5:n.734A>G
NM_000202.6:c.620A>G	NP_000193.1:p.Gln207Arg
NM_001166550.2:c.350A>G	NP_001160022.1:p.Gln117Arg
NM_006123.4:c.620A>G	NP_006114.1:p.Gln207Arg
NR_104128.1:n.837A>G
NM_000202.7:c.620A>G	NP_000193.1:p.Gln207Arg
NM_001166550.3:c.350A>G	NP_001160022.1:p.Gln117Arg
NM_000202.8:c.620A>G MANE Select	NP_000193.1:p.Gln207Arg
NM_001166550.4:c.350A>G	NP_001160022.1:p.Gln117Arg
NM_006123.5:c.620A>G	NP_006114.1:p.Gln207Arg
NR_104128.2:n.789A>G