Canonical Allele Identifier: CA519057679

Gene: IDS

Linked Data

• gnomAD v4: X-149490339-G-A
• MyVariant Identifiers: chrX:g.148571870G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149490339G>A , CM000685.2:g.149490339G>A	GRCh38
NC_000023.10:g.148571870G>A , CM000685.1:g.148571870G>A	GRCh37
NC_000023.9:g.148379775G>A	NCBI36
NG_011900.3:g.19996C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.981C>T MANE Select	ENSP00000339801.6:p.Thr327=
ENST00000651111.1:c.348C>T	ENSP00000498395.1:p.Thr116=
ENST00000340855.10:c.981C>T	ENSP00000339801.6:p.Thr327=
ENST00000370441.8:c.981C>T	ENSP00000359470.4:p.Thr327=
ENST00000422081.6:c.348C>T	ENSP00000477056.1:p.Thr116=
ENST00000441880.1:n.114-3241C>T
ENST00000464251.5:c.907C>T	ENSP00000428980.1:n.907C>T
ENST00000466323.5:c.*172C>T	ENSP00000418264.1:n.*172C>T
ENST00000490775.5:n.766C>T
NM_000202.6:c.981C>T	NP_000193.1:p.Thr327=
NM_001166550.2:c.711C>T	NP_001160022.1:p.Thr237=
NM_006123.4:c.981C>T	NP_006114.1:p.Thr327=
NR_104128.1:n.1328C>T
NM_000202.7:c.981C>T	NP_000193.1:p.Thr327=
NM_001166550.3:c.711C>T	NP_001160022.1:p.Thr237=
NM_000202.8:c.981C>T MANE Select	NP_000193.1:p.Thr327=
NM_001166550.4:c.711C>T	NP_001160022.1:p.Thr237=
NM_006123.5:c.981C>T	NP_006114.1:p.Thr327=
NR_104128.2:n.1280C>T