Canonical Allele Identifier: CA519060952

Gene: IDS

Linked Data

• dbSNP Id: rs1361402407
• gnomAD v2: X-148584939-G-A
• gnomAD v4: X-149503409-G-A
• MyVariant Identifiers: chrX:g.148584939G>A (hg19) ; chrX:g.149503409G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149503409G>A , CM000685.2:g.149503409G>A	GRCh38
NC_000023.10:g.148584939G>A , CM000685.1:g.148584939G>A	GRCh37
NC_000023.9:g.148392844G>A	NCBI36
NG_011900.3:g.6926C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.321C>T MANE Select	ENSP00000339801.6:p.Ser107=
ENST00000651111.1:c.-215-2372C>T	ENSP00000498395.1:n.-215-2372C>T
ENST00000340855.10:c.321C>T	ENSP00000339801.6:p.Ser107=
ENST00000370441.8:c.321C>T	ENSP00000359470.4:p.Ser107=
ENST00000422081.6:c.-215-2372C>T	ENSP00000477056.1:n.-215-2372C>T
ENST00000427113.2:n.770-1186C>T
ENST00000428056.6:c.321C>T	ENSP00000390241.2:p.Ser107=
ENST00000441880.1:n.114-16311C>T
ENST00000464251.5:c.144C>T	ENSP00000428980.1:p.Ser48=
ENST00000466323.5:c.321C>T	ENSP00000418264.1:p.Ser107=
ENST00000523759.5:n.533-2372C>T
NM_000202.6:c.321C>T	NP_000193.1:p.Ser107=
NM_001166550.2:c.51C>T	NP_001160022.1:p.Ser17=
NM_006123.4:c.321C>T	NP_006114.1:p.Ser107=
NR_104128.1:n.538C>T
NM_000202.7:c.321C>T	NP_000193.1:p.Ser107=
NM_001166550.3:c.51C>T	NP_001160022.1:p.Ser17=
NM_000202.8:c.321C>T MANE Select	NP_000193.1:p.Ser107=
NM_001166550.4:c.51C>T	NP_001160022.1:p.Ser17=
NM_006123.5:c.321C>T	NP_006114.1:p.Ser107=
NR_104128.2:n.490C>T