Canonical Allele Identifier: CA519057682

Gene: IDS

Linked Data

• ClinVar Variation Id: 2887805
• ClinVar RCV Id: RCV003623765
• MyVariant Identifiers: chrX:g.148571873G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149490342G>A , CM000685.2:g.149490342G>A	GRCh38
NC_000023.10:g.148571873G>A , CM000685.1:g.148571873G>A	GRCh37
NC_000023.9:g.148379778G>A	NCBI36
NG_011900.3:g.19993C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.978C>T MANE Select	ENSP00000339801.6:p.Ser326=
ENST00000651111.1:c.345C>T	ENSP00000498395.1:p.Ser115=
ENST00000340855.10:c.978C>T	ENSP00000339801.6:p.Ser326=
ENST00000370441.8:c.978C>T	ENSP00000359470.4:p.Ser326=
ENST00000422081.6:c.345C>T	ENSP00000477056.1:p.Ser115=
ENST00000441880.1:n.114-3244C>T
ENST00000464251.5:c.904C>T	ENSP00000428980.1:n.904C>T
ENST00000466323.5:c.*169C>T	ENSP00000418264.1:n.*169C>T
ENST00000490775.5:n.763C>T
NM_000202.6:c.978C>T	NP_000193.1:p.Ser326=
NM_001166550.2:c.708C>T	NP_001160022.1:p.Ser236=
NM_006123.4:c.978C>T	NP_006114.1:p.Ser326=
NR_104128.1:n.1325C>T
NM_000202.7:c.978C>T	NP_000193.1:p.Ser326=
NM_001166550.3:c.708C>T	NP_001160022.1:p.Ser236=
NM_000202.8:c.978C>T MANE Select	NP_000193.1:p.Ser326=
NM_001166550.4:c.708C>T	NP_001160022.1:p.Ser236=
NM_006123.5:c.978C>T	NP_006114.1:p.Ser326=
NR_104128.2:n.1277C>T