Canonical Allele Identifier: CA414520407

Gene: IDS

Linked Data

• ClinVar Variation Id: 1706443
• ClinVar RCV Id: RCV002284980
• MyVariant Identifiers: chrX:g.148571947C>A (hg19) ; chrX:g.149490416C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149490416C>A , CM000685.2:g.149490416C>A	GRCh38
NC_000023.10:g.148571947C>A , CM000685.1:g.148571947C>A	GRCh37
NC_000023.9:g.148379852C>A	NCBI36
NG_011900.3:g.19919G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.904G>T MANE Select	ENSP00000339801.6:p.Ala302Ser
ENST00000651111.1:c.271G>T	ENSP00000498395.1:p.Ala91Ser
ENST00000340855.10:c.904G>T	ENSP00000339801.6:p.Ala302Ser
ENST00000370441.8:c.904G>T	ENSP00000359470.4:p.Ala302Ser
ENST00000422081.6:c.271G>T	ENSP00000477056.1:p.Ala91Ser
ENST00000441880.1:n.114-3318G>T
ENST00000464251.5:c.830G>T	ENSP00000428980.1:n.830G>T
ENST00000466323.5:c.*95G>T	ENSP00000418264.1:n.*95G>T
ENST00000490775.5:n.689G>T
NM_000202.6:c.904G>T	NP_000193.1:p.Ala302Ser
NM_001166550.2:c.634G>T	NP_001160022.1:p.Ala212Ser
NM_006123.4:c.904G>T	NP_006114.1:p.Ala302Ser
NR_104128.1:n.1251G>T
NM_000202.7:c.904G>T	NP_000193.1:p.Ala302Ser
NM_001166550.3:c.634G>T	NP_001160022.1:p.Ala212Ser
NM_000202.8:c.904G>T MANE Select	NP_000193.1:p.Ala302Ser
NM_001166550.4:c.634G>T	NP_001160022.1:p.Ala212Ser
NM_006123.5:c.904G>T	NP_006114.1:p.Ala302Ser
NR_104128.2:n.1203G>T