Canonical Allele Identifier: CA414520023

Gene: IDS

Linked Data

• ClinVar Variation Id: 2194608
• ClinVar RCV Id: RCV002637230
• gnomAD v4: X-149490350-C-T
• MyVariant Identifiers: chrX:g.148571881C>T (hg19) ; chrX:g.149490350C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149490350C>T , CM000685.2:g.149490350C>T	GRCh38
NC_000023.10:g.148571881C>T , CM000685.1:g.148571881C>T	GRCh37
NC_000023.9:g.148379786C>T	NCBI36
NG_011900.3:g.19985G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.970G>A MANE Select	ENSP00000339801.6:p.Ala324Thr
ENST00000651111.1:c.337G>A	ENSP00000498395.1:p.Ala113Thr
ENST00000340855.10:c.970G>A	ENSP00000339801.6:p.Ala324Thr
ENST00000370441.8:c.970G>A	ENSP00000359470.4:p.Ala324Thr
ENST00000422081.6:c.337G>A	ENSP00000477056.1:p.Ala113Thr
ENST00000441880.1:n.114-3252G>A
ENST00000464251.5:c.896G>A	ENSP00000428980.1:n.896G>A
ENST00000466323.5:c.*161G>A	ENSP00000418264.1:n.*161G>A
ENST00000490775.5:n.755G>A
NM_000202.6:c.970G>A	NP_000193.1:p.Ala324Thr
NM_001166550.2:c.700G>A	NP_001160022.1:p.Ala234Thr
NM_006123.4:c.970G>A	NP_006114.1:p.Ala324Thr
NR_104128.1:n.1317G>A
NM_000202.7:c.970G>A	NP_000193.1:p.Ala324Thr
NM_001166550.3:c.700G>A	NP_001160022.1:p.Ala234Thr
NM_000202.8:c.970G>A MANE Select	NP_000193.1:p.Ala324Thr
NM_001166550.4:c.700G>A	NP_001160022.1:p.Ala234Thr
NM_006123.5:c.970G>A	NP_006114.1:p.Ala324Thr
NR_104128.2:n.1269G>A