Canonical Allele Identifier: CA519057455

Gene: IDS

Linked Data

• gnomAD v4: X-149482896-C-T
• MyVariant Identifiers: chrX:g.148564427C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149482896C>T , CM000685.2:g.149482896C>T	GRCh38
NC_000023.10:g.148564427C>T , CM000685.1:g.148564427C>T	GRCh37
NC_000023.9:g.148372332C>T	NCBI36
NG_011900.3:g.27439G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.1503G>A MANE Select	ENSP00000339801.6:p.Val501=
ENST00000651111.1:c.870G>A	ENSP00000498395.1:p.Val290=
ENST00000340855.10:c.1503G>A	ENSP00000339801.6:p.Val501=
ENST00000422081.6:c.870G>A	ENSP00000477056.1:p.Val290=
NM_000202.6:c.1503G>A	NP_000193.1:p.Val501=
NM_001166550.2:c.1233G>A	NP_001160022.1:p.Val411=
NM_000202.7:c.1503G>A	NP_000193.1:p.Val501=
NM_001166550.3:c.1233G>A	NP_001160022.1:p.Val411=
NM_000202.8:c.1503G>A MANE Select	NP_000193.1:p.Val501=
NM_001166550.4:c.1233G>A	NP_001160022.1:p.Val411=