Canonical Allele Identifier: CA10537472

Gene: IDS

Linked Data

• ClinVar Variation Id: 1091874
• ClinVar RCV Id: RCV001411515
• dbSNP Id: rs782066597
• ExAC: X:148564673 T / C
• gnomAD v2: X-148564673-T-C
• gnomAD v4: X-149483142-T-C
• MyVariant Identifiers: chrX:g.148564673T>C (hg19) ; chrX:g.149483142T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149483142T>C , CM000685.2:g.149483142T>C	GRCh38
NC_000023.10:g.148564673T>C , CM000685.1:g.148564673T>C	GRCh37
NC_000023.9:g.148372578T>C	NCBI36
NG_011900.3:g.27193A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.1257A>G MANE Select	ENSP00000339801.6:p.Pro419=
ENST00000651111.1:c.624A>G	ENSP00000498395.1:p.Pro208=
ENST00000340855.10:c.1257A>G	ENSP00000339801.6:p.Pro419=
ENST00000422081.6:c.624A>G	ENSP00000477056.1:p.Pro208=
ENST00000441880.1:n.364A>G
NM_000202.6:c.1257A>G	NP_000193.1:p.Pro419=
NM_001166550.2:c.987A>G	NP_001160022.1:p.Pro329=
NM_000202.7:c.1257A>G	NP_000193.1:p.Pro419=
NM_001166550.3:c.987A>G	NP_001160022.1:p.Pro329=
NM_000202.8:c.1257A>G MANE Select	NP_000193.1:p.Pro419=
NM_001166550.4:c.987A>G	NP_001160022.1:p.Pro329=