Canonical Allele Identifier: CA414518203

Gene: IDS

Linked Data

• ClinVar Variation Id: 1683767
• ClinVar RCV Id: RCV002244288
• dbSNP Id: rs1365886210
• gnomAD v4: X-149483012-A-G
• MyVariant Identifiers: chrX:g.148564543A>G (hg19) ; chrX:g.149483012A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149483012A>G , CM000685.2:g.149483012A>G	GRCh38
NC_000023.10:g.148564543A>G , CM000685.1:g.148564543A>G	GRCh37
NC_000023.9:g.148372448A>G	NCBI36
NG_011900.3:g.27323T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000340855.11:c.1387T>C MANE Select	ENSP00000339801.6:p.Tyr463His
ENST00000651111.1:c.754T>C	ENSP00000498395.1:p.Tyr252His
ENST00000340855.10:c.1387T>C	ENSP00000339801.6:p.Tyr463His
ENST00000422081.6:c.754T>C	ENSP00000477056.1:p.Tyr252His
NM_000202.6:c.1387T>C	NP_000193.1:p.Tyr463His
NM_001166550.2:c.1117T>C	NP_001160022.1:p.Tyr373His
NM_000202.7:c.1387T>C	NP_000193.1:p.Tyr463His
NM_001166550.3:c.1117T>C	NP_001160022.1:p.Tyr373His
NM_000202.8:c.1387T>C MANE Select	NP_000193.1:p.Tyr463His
NM_001166550.4:c.1117T>C	NP_001160022.1:p.Tyr373His