Canonical Allele Identifier: CA203395

Gene: IDS

Linked Data

• ClinVar Variation Id: 198405
• ClinVar RCV Id: RCV000179733 ; RCV000675877 ; RCV000990962
• dbSNP Id: rs145807417
• ExAC: X:148571926 T / C
• gnomAD v2: X-148571926-T-C
• gnomAD v3: X-149490395-T-C
• gnomAD v4: X-149490395-T-C
• MyVariant Identifiers: chrX:g.148571926T>C (hg19) ; chrX:g.149490395T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149490395T>C , CM000685.2:g.149490395T>C	GRCh38
NC_000023.10:g.148571926T>C , CM000685.1:g.148571926T>C	GRCh37
NC_000023.9:g.148379831T>C	NCBI36
NG_011900.3:g.19940A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000340855.11:c.925A>G MANE Select	ENSP00000339801.6:p.Thr309Ala
ENST00000651111.1:c.292A>G	ENSP00000498395.1:p.Thr98Ala
ENST00000340855.10:c.925A>G	ENSP00000339801.6:p.Thr309Ala
ENST00000370441.8:c.925A>G	ENSP00000359470.4:p.Thr309Ala
ENST00000422081.6:c.292A>G	ENSP00000477056.1:p.Thr98Ala
ENST00000441880.1:n.114-3297A>G
ENST00000464251.5:c.851A>G	ENSP00000428980.1:n.851A>G
ENST00000466323.5:c.*116A>G	ENSP00000418264.1:n.*116A>G
ENST00000490775.5:n.710A>G
NM_000202.6:c.925A>G	NP_000193.1:p.Thr309Ala
NM_001166550.2:c.655A>G	NP_001160022.1:p.Thr219Ala
NM_006123.4:c.925A>G	NP_006114.1:p.Thr309Ala
NR_104128.1:n.1272A>G
NM_000202.7:c.925A>G	NP_000193.1:p.Thr309Ala
NM_001166550.3:c.655A>G	NP_001160022.1:p.Thr219Ala
NM_000202.8:c.925A>G MANE Select	NP_000193.1:p.Thr309Ala
NM_001166550.4:c.655A>G	NP_001160022.1:p.Thr219Ala
NM_006123.5:c.925A>G	NP_006114.1:p.Thr309Ala
NR_104128.2:n.1224A>G