Canonical Allele Identifier: CA414525770

Gene: IDS

Linked Data

• dbSNP Id: rs1557340237
• gnomAD v2: X-148584875-C-A
• gnomAD v4: X-149503345-C-A
• MyVariant Identifiers: chrX:g.148584875C>A (hg19) ; chrX:g.149503345C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149503345C>A , CM000685.2:g.149503345C>A	GRCh38
NC_000023.10:g.148584875C>A , CM000685.1:g.148584875C>A	GRCh37
NC_000023.9:g.148392780C>A	NCBI36
NG_011900.3:g.6990G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.385G>T MANE Select	ENSP00000339801.6:p.Val129Leu
ENST00000651111.1:c.-215-2308G>T	ENSP00000498395.1:n.-215-2308G>T
ENST00000340855.10:c.385G>T	ENSP00000339801.6:p.Val129Leu
ENST00000370441.8:c.385G>T	ENSP00000359470.4:p.Val129Leu
ENST00000422081.6:c.-215-2308G>T	ENSP00000477056.1:n.-215-2308G>T
ENST00000427113.2:n.770-1122G>T
ENST00000428056.6:c.385G>T	ENSP00000390241.2:p.Val129Leu
ENST00000441880.1:n.114-16247G>T
ENST00000464251.5:c.208G>T	ENSP00000428980.1:p.Val70Leu
ENST00000466323.5:c.385G>T	ENSP00000418264.1:p.Val129Leu
ENST00000490775.5:n.44G>T
ENST00000523759.5:n.533-2308G>T
NM_000202.6:c.385G>T	NP_000193.1:p.Val129Leu
NM_001166550.2:c.115G>T	NP_001160022.1:p.Val39Leu
NM_006123.4:c.385G>T	NP_006114.1:p.Val129Leu
NR_104128.1:n.602G>T
NM_000202.7:c.385G>T	NP_000193.1:p.Val129Leu
NM_001166550.3:c.115G>T	NP_001160022.1:p.Val39Leu
NM_000202.8:c.385G>T MANE Select	NP_000193.1:p.Val129Leu
NM_001166550.4:c.115G>T	NP_001160022.1:p.Val39Leu
NM_006123.5:c.385G>T	NP_006114.1:p.Val129Leu
NR_104128.2:n.554G>T