Canonical Allele Identifier: CA414522223

Gene: IDS

Linked Data

• gnomAD v4: X-149498151-C-T
• MyVariant Identifiers: chrX:g.148579682C>T (hg19) ; chrX:g.149498151C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149498151C>T , CM000685.2:g.149498151C>T	GRCh38
NC_000023.10:g.148579682C>T , CM000685.1:g.148579682C>T	GRCh37
NC_000023.9:g.148387587C>T	NCBI36
NG_011900.3:g.12184G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.664G>A MANE Select	ENSP00000339801.6:p.Ala222Thr
ENST00000651111.1:c.31G>A	ENSP00000498395.1:p.Ala11Thr
ENST00000340855.10:c.664G>A	ENSP00000339801.6:p.Ala222Thr
ENST00000370441.8:c.664G>A	ENSP00000359470.4:p.Ala222Thr
ENST00000422081.6:c.31G>A	ENSP00000477056.1:p.Ala11Thr
ENST00000441880.1:n.114-11053G>A
ENST00000464251.5:c.590G>A	ENSP00000428980.1:n.590G>A
ENST00000466019.1:n.116G>A
ENST00000466323.5:c.664G>A	ENSP00000418264.1:p.Ala222Thr
ENST00000490775.5:n.449G>A
NM_000202.6:c.664G>A	NP_000193.1:p.Ala222Thr
NM_001166550.2:c.394G>A	NP_001160022.1:p.Ala132Thr
NM_006123.4:c.664G>A	NP_006114.1:p.Ala222Thr
NR_104128.1:n.881G>A
NM_000202.7:c.664G>A	NP_000193.1:p.Ala222Thr
NM_001166550.3:c.394G>A	NP_001160022.1:p.Ala132Thr
NM_000202.8:c.664G>A MANE Select	NP_000193.1:p.Ala222Thr
NM_001166550.4:c.394G>A	NP_001160022.1:p.Ala132Thr
NM_006123.5:c.664G>A	NP_006114.1:p.Ala222Thr
NR_104128.2:n.833G>A