Canonical Allele Identifier: CA414525489

Gene: IDS

Linked Data

• gnomAD v4: X-149503314-G-A
• MyVariant Identifiers: chrX:g.148584844G>A (hg19) ; chrX:g.149503314G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149503314G>A , CM000685.2:g.149503314G>A	GRCh38
NC_000023.10:g.148584844G>A , CM000685.1:g.148584844G>A	GRCh37
NC_000023.9:g.148392749G>A	NCBI36
NG_011900.3:g.7021C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.416C>T MANE Select	ENSP00000339801.6:p.Pro139Leu
ENST00000651111.1:c.-215-2277C>T	ENSP00000498395.1:n.-215-2277C>T
ENST00000340855.10:c.416C>T	ENSP00000339801.6:p.Pro139Leu
ENST00000370441.8:c.416C>T	ENSP00000359470.4:p.Pro139Leu
ENST00000422081.6:c.-215-2277C>T	ENSP00000477056.1:n.-215-2277C>T
ENST00000427113.2:n.770-1091C>T
ENST00000428056.6:c.416C>T	ENSP00000390241.2:p.Pro139Leu
ENST00000441880.1:n.114-16216C>T
ENST00000464251.5:c.239C>T	ENSP00000428980.1:p.Pro80Leu
ENST00000466323.5:c.416C>T	ENSP00000418264.1:p.Pro139Leu
ENST00000490775.5:n.75C>T
ENST00000523759.5:n.533-2277C>T
NM_000202.6:c.416C>T	NP_000193.1:p.Pro139Leu
NM_001166550.2:c.146C>T	NP_001160022.1:p.Pro49Leu
NM_006123.4:c.416C>T	NP_006114.1:p.Pro139Leu
NR_104128.1:n.633C>T
NM_000202.7:c.416C>T	NP_000193.1:p.Pro139Leu
NM_001166550.3:c.146C>T	NP_001160022.1:p.Pro49Leu
NM_000202.8:c.416C>T MANE Select	NP_000193.1:p.Pro139Leu
NM_001166550.4:c.146C>T	NP_001160022.1:p.Pro49Leu
NM_006123.5:c.416C>T	NP_006114.1:p.Pro139Leu
NR_104128.2:n.585C>T