Canonical Allele Identifier: CA1138318598

Gene: IDS

Linked Data

• dbSNP Id: rs2089308614
• gnomAD v3: X-149483240-C-A
• gnomAD v4: X-149483240-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149483240C>A , CM000685.2:g.149483240C>A	GRCh38
NC_000023.10:g.148564771C>A , CM000685.1:g.148564771C>A	GRCh37
NC_000023.9:g.148372676C>A	NCBI36
NG_011900.3:g.27095G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.1181-22G>T MANE Select	ENSP00000339801.6:n.1181-22G>T
ENST00000651111.1:c.548-22G>T	ENSP00000498395.1:n.548-22G>T
ENST00000340855.10:c.1181-22G>T	ENSP00000339801.6:n.1181-22G>T
ENST00000422081.6:c.548-22G>T	ENSP00000477056.1:n.548-22G>T
ENST00000441880.1:n.288-22G>T
NM_000202.6:c.1181-22G>T	NP_000193.1:n.1181-22G>T
NM_001166550.2:c.911-22G>T	NP_001160022.1:n.911-22G>T
NM_000202.7:c.1181-22G>T	NP_000193.1:n.1181-22G>T
NM_001166550.3:c.911-22G>T	NP_001160022.1:n.911-22G>T
NM_000202.8:c.1181-22G>T MANE Select	NP_000193.1:n.1181-22G>T
NM_001166550.4:c.911-22G>T	NP_001160022.1:n.911-22G>T