Canonical Allele Identifier: CA872890840

Gene: IDS

Linked Data

• ClinVar Variation Id: 2754352
• ClinVar RCV Id: RCV003509992
• dbSNP Id: rs1424435938
• gnomAD v4: X-149490302-C-A
• MyVariant Identifiers: chrX:g.149490302C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149490302C>A , CM000685.2:g.149490302C>A	GRCh38
NC_000023.10:g.148571833C>A , CM000685.1:g.148571833C>A	GRCh37
NC_000023.9:g.148379738C>A	NCBI36
NG_011900.3:g.20033G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000340855.11:c.1006+12G>T MANE Select	ENSP00000339801.6:n.1006+12G>T
ENST00000651111.1:c.373+12G>T	ENSP00000498395.1:n.373+12G>T
ENST00000340855.10:c.1006+12G>T	ENSP00000339801.6:n.1006+12G>T
ENST00000370441.8:c.1006+12G>T	ENSP00000359470.4:n.1006+12G>T
ENST00000422081.6:c.373+12G>T	ENSP00000477056.1:n.373+12G>T
ENST00000441880.1:n.114-3204G>T
ENST00000464251.5:c.932+12G>T	ENSP00000428980.1:n.932+12G>T
ENST00000466323.5:c.*197+12G>T	ENSP00000418264.1:n.*197+12G>T
ENST00000490775.5:n.791+12G>T
NM_000202.6:c.1006+12G>T	NP_000193.1:n.1006+12G>T
NM_001166550.2:c.736+12G>T	NP_001160022.1:n.736+12G>T
NM_006123.4:c.1006+12G>T	NP_006114.1:n.1006+12G>T
NR_104128.1:n.1353+12G>T
NM_000202.7:c.1006+12G>T	NP_000193.1:n.1006+12G>T
NM_001166550.3:c.736+12G>T	NP_001160022.1:n.736+12G>T
NM_000202.8:c.1006+12G>T MANE Select	NP_000193.1:n.1006+12G>T
NM_001166550.4:c.736+12G>T	NP_001160022.1:n.736+12G>T
NM_006123.5:c.1006+12G>T	NP_006114.1:n.1006+12G>T
NR_104128.2:n.1305+12G>T