Canonical Allele Identifier: CA10537480

Gene: IDS

Linked Data

• ClinVar Variation Id: 1599007
• ClinVar RCV Id: RCV002122960
• dbSNP Id: rs199965368
• ExAC: X:148564764 G / A
• gnomAD v2: X-148564764-G-A
• gnomAD v3: X-149483233-G-A
• gnomAD v4: X-149483233-G-A
• MyVariant Identifiers: chrX:g.148564764G>A (hg19) ; chrX:g.149483233G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149483233G>A , CM000685.2:g.149483233G>A	GRCh38
NC_000023.10:g.148564764G>A , CM000685.1:g.148564764G>A	GRCh37
NC_000023.9:g.148372669G>A	NCBI36
NG_011900.3:g.27102C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.1181-15C>T MANE Select	ENSP00000339801.6:n.1181-15C>T
ENST00000651111.1:c.548-15C>T	ENSP00000498395.1:n.548-15C>T
ENST00000340855.10:c.1181-15C>T	ENSP00000339801.6:n.1181-15C>T
ENST00000422081.6:c.548-15C>T	ENSP00000477056.1:n.548-15C>T
ENST00000441880.1:n.288-15C>T
NM_000202.6:c.1181-15C>T	NP_000193.1:n.1181-15C>T
NM_001166550.2:c.911-15C>T	NP_001160022.1:n.911-15C>T
NM_000202.7:c.1181-15C>T	NP_000193.1:n.1181-15C>T
NM_001166550.3:c.911-15C>T	NP_001160022.1:n.911-15C>T
NM_000202.8:c.1181-15C>T MANE Select	NP_000193.1:n.1181-15C>T
NM_001166550.4:c.911-15C>T	NP_001160022.1:n.911-15C>T