Canonical Allele Identifier: CA10537638

Gene: IDS

Linked Data

• ClinVar Variation Id: 1569010
• ClinVar RCV Id: RCV002218777
• dbSNP Id: rs782007728
• ExAC: X:148579789 A / G
• gnomAD v2: X-148579789-A-G
• gnomAD v4: X-149498258-A-G
• MyVariant Identifiers: chrX:g.148579789A>G (hg19) ; chrX:g.149498258A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149498258A>G , CM000685.2:g.149498258A>G	GRCh38
NC_000023.10:g.148579789A>G , CM000685.1:g.148579789A>G	GRCh37
NC_000023.9:g.148387694A>G	NCBI36
NG_011900.3:g.12077T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.557T>C MANE Select	ENSP00000339801.6:p.Val186Ala
ENST00000651111.1:c.-77T>C	ENSP00000498395.1:n.-77T>C
ENST00000340855.10:c.557T>C	ENSP00000339801.6:p.Val186Ala
ENST00000370441.8:c.557T>C	ENSP00000359470.4:p.Val186Ala
ENST00000422081.6:c.-77T>C	ENSP00000477056.1:n.-77T>C
ENST00000441880.1:n.114-11160T>C
ENST00000464251.5:c.483T>C	ENSP00000428980.1:n.483T>C
ENST00000466019.1:n.9T>C
ENST00000466323.5:c.557T>C	ENSP00000418264.1:p.Val186Ala
ENST00000490775.5:n.342T>C
ENST00000523759.5:n.671T>C
NM_000202.6:c.557T>C	NP_000193.1:p.Val186Ala
NM_001166550.2:c.287T>C	NP_001160022.1:p.Val96Ala
NM_006123.4:c.557T>C	NP_006114.1:p.Val186Ala
NR_104128.1:n.774T>C
NM_000202.7:c.557T>C	NP_000193.1:p.Val186Ala
NM_001166550.3:c.287T>C	NP_001160022.1:p.Val96Ala
NM_000202.8:c.557T>C MANE Select	NP_000193.1:p.Val186Ala
NM_001166550.4:c.287T>C	NP_001160022.1:p.Val96Ala
NM_006123.5:c.557T>C	NP_006114.1:p.Val186Ala
NR_104128.2:n.726T>C