Canonical Allele Identifier: CA2694909081

Gene: IDS

Linked Data

• gnomAD v4: X-149487132-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149487132G>A , CM000685.2:g.149487132G>A	GRCh38
NC_000023.10:g.148568663G>A , CM000685.1:g.148568663G>A	GRCh37
NC_000023.9:g.148376568G>A	NCBI36
NG_011900.3:g.23203C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.1007-34C>T MANE Select	ENSP00000339801.6:n.1007-34C>T
ENST00000651111.1:c.374-34C>T	ENSP00000498395.1:n.374-34C>T
ENST00000340855.10:c.1007-34C>T	ENSP00000339801.6:n.1007-34C>T
ENST00000370441.8:c.*156C>T	ENSP00000359470.4:n.*156C>T
ENST00000422081.6:c.374-34C>T	ENSP00000477056.1:n.374-34C>T
ENST00000441880.1:n.114-34C>T
ENST00000466323.5:c.*379C>T	ENSP00000418264.1:n.*379C>T
NM_000202.6:c.1007-34C>T	NP_000193.1:n.1007-34C>T
NM_001166550.2:c.737-34C>T	NP_001160022.1:n.737-34C>T
NM_006123.4:c.*156C>T	NP_006114.1:n.*156C>T
NR_104128.1:n.1535C>T
NM_000202.7:c.1007-34C>T	NP_000193.1:n.1007-34C>T
NM_001166550.3:c.737-34C>T	NP_001160022.1:n.737-34C>T
NM_000202.8:c.1007-34C>T MANE Select	NP_000193.1:n.1007-34C>T
NM_001166550.4:c.737-34C>T	NP_001160022.1:n.737-34C>T
NM_006123.5:c.*156C>T	NP_006114.1:n.*156C>T
NR_104128.2:n.1487C>T