Canonical Allele Identifier: CA414518143

Gene: IDS

Linked Data

• ClinVar Variation Id: 1186178
• ClinVar RCV Id: RCV001545184 ; RCV001824993
• dbSNP Id: rs2123994315
• gnomAD v4: X-149482982-G-A
• MyVariant Identifiers: chrX:g.148564513G>A (hg19) ; chrX:g.149482982G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149482982G>A , CM000685.2:g.149482982G>A	GRCh38
NC_000023.10:g.148564513G>A , CM000685.1:g.148564513G>A	GRCh37
NC_000023.9:g.148372418G>A	NCBI36
NG_011900.3:g.27353C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.1417C>T MANE Select	ENSP00000339801.6:p.Pro473Ser
ENST00000651111.1:c.784C>T	ENSP00000498395.1:p.Pro262Ser
ENST00000340855.10:c.1417C>T	ENSP00000339801.6:p.Pro473Ser
ENST00000422081.6:c.784C>T	ENSP00000477056.1:p.Pro262Ser
NM_000202.6:c.1417C>T	NP_000193.1:p.Pro473Ser
NM_001166550.2:c.1147C>T	NP_001160022.1:p.Pro383Ser
NM_000202.7:c.1417C>T	NP_000193.1:p.Pro473Ser
NM_001166550.3:c.1147C>T	NP_001160022.1:p.Pro383Ser
NM_000202.8:c.1417C>T MANE Select	NP_000193.1:p.Pro473Ser
NM_001166550.4:c.1147C>T	NP_001160022.1:p.Pro383Ser