Canonical Allele Identifier: CA10537434

Gene: IDS

Linked Data

• ClinVar Variation Id: 2036565
• ClinVar RCV Id: RCV002881988
• dbSNP Id: rs782433387
• ExAC: X:148564382 G / A
• gnomAD v2: X-148564382-G-A
• gnomAD v4: X-149482851-G-A
• MyVariant Identifiers: chrX:g.148564382G>A (hg19) ; chrX:g.149482851G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149482851G>A , CM000685.2:g.149482851G>A	GRCh38
NC_000023.10:g.148564382G>A , CM000685.1:g.148564382G>A	GRCh37
NC_000023.9:g.148372287G>A	NCBI36
NG_011900.3:g.27484C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.1548C>T MANE Select	ENSP00000339801.6:p.Asp516=
ENST00000651111.1:c.915C>T	ENSP00000498395.1:p.Asp305=
ENST00000340855.10:c.1548C>T	ENSP00000339801.6:p.Asp516=
ENST00000422081.6:c.915C>T	ENSP00000477056.1:p.Asp305=
NM_000202.6:c.1548C>T	NP_000193.1:p.Asp516=
NM_001166550.2:c.1278C>T	NP_001160022.1:p.Asp426=
NM_000202.7:c.1548C>T	NP_000193.1:p.Asp516=
NM_001166550.3:c.1278C>T	NP_001160022.1:p.Asp426=
NM_000202.8:c.1548C>T MANE Select	NP_000193.1:p.Asp516=
NM_001166550.4:c.1278C>T	NP_001160022.1:p.Asp426=