Canonical Allele Identifier: CA10537544

Gene: IDS

Linked Data

• ClinVar Variation Id: 1492947
• ClinVar RCV Id: RCV002012528 ; RCV002370673
• dbSNP Id: rs374576277
• ExAC: X:148571901 G / T
• gnomAD v2: X-148571901-G-T
• gnomAD v3: X-149490370-G-T
• gnomAD v4: X-149490370-G-T
• MyVariant Identifiers: chrX:g.148571901G>T (hg19) ; chrX:g.149490370G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149490370G>T , CM000685.2:g.149490370G>T	GRCh38
NC_000023.10:g.148571901G>T , CM000685.1:g.148571901G>T	GRCh37
NC_000023.9:g.148379806G>T	NCBI36
NG_011900.3:g.19965C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.950C>A MANE Select	ENSP00000339801.6:p.Ala317Asp
ENST00000651111.1:c.317C>A	ENSP00000498395.1:p.Ala106Asp
ENST00000340855.10:c.950C>A	ENSP00000339801.6:p.Ala317Asp
ENST00000370441.8:c.950C>A	ENSP00000359470.4:p.Ala317Asp
ENST00000422081.6:c.317C>A	ENSP00000477056.1:p.Ala106Asp
ENST00000441880.1:n.114-3272C>A
ENST00000464251.5:c.876C>A	ENSP00000428980.1:n.876C>A
ENST00000466323.5:c.*141C>A	ENSP00000418264.1:n.*141C>A
ENST00000490775.5:n.735C>A
NM_000202.6:c.950C>A	NP_000193.1:p.Ala317Asp
NM_001166550.2:c.680C>A	NP_001160022.1:p.Ala227Asp
NM_006123.4:c.950C>A	NP_006114.1:p.Ala317Asp
NR_104128.1:n.1297C>A
NM_000202.7:c.950C>A	NP_000193.1:p.Ala317Asp
NM_001166550.3:c.680C>A	NP_001160022.1:p.Ala227Asp
NM_000202.8:c.950C>A MANE Select	NP_000193.1:p.Ala317Asp
NM_001166550.4:c.680C>A	NP_001160022.1:p.Ala227Asp
NM_006123.5:c.950C>A	NP_006114.1:p.Ala317Asp
NR_104128.2:n.1249C>A