Canonical Allele Identifier: CA414518760

Gene: IDS

Linked Data

• dbSNP Id: rs782817492
• gnomAD v3: X-149486970-G-C
• gnomAD v4: X-149486970-G-C
• MyVariant Identifiers: chrX:g.148568501G>C (hg19) ; chrX:g.149486970G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149486970G>C , CM000685.2:g.149486970G>C	GRCh38
NC_000023.10:g.148568501G>C , CM000685.1:g.148568501G>C	GRCh37
NC_000023.9:g.148376406G>C	NCBI36
NG_011900.3:g.23365C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.1135C>G MANE Select	ENSP00000339801.6:p.Pro379Ala
ENST00000651111.1:c.502C>G	ENSP00000498395.1:p.Pro168Ala
ENST00000340855.10:c.1135C>G	ENSP00000339801.6:p.Pro379Ala
ENST00000422081.6:c.502C>G	ENSP00000477056.1:p.Pro168Ala
ENST00000441880.1:n.242C>G
NM_000202.6:c.1135C>G	NP_000193.1:p.Pro379Ala
NM_001166550.2:c.865C>G	NP_001160022.1:p.Pro289Ala
NM_000202.7:c.1135C>G	NP_000193.1:p.Pro379Ala
NM_001166550.3:c.865C>G	NP_001160022.1:p.Pro289Ala
NM_000202.8:c.1135C>G MANE Select	NP_000193.1:p.Pro379Ala
NM_001166550.4:c.865C>G	NP_001160022.1:p.Pro289Ala