Canonical Allele Identifier: CA1138319296

Gene: IDS

Linked Data

• dbSNP Id: rs2051478279
• gnomAD v3: X-149486844-C-T
• gnomAD v4: X-149486844-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149486844C>T , CM000685.2:g.149486844C>T	GRCh38
NC_000023.10:g.148568375C>T , CM000685.1:g.148568375C>T	GRCh37
NC_000023.9:g.148376280C>T	NCBI36
NG_011900.3:g.23491G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.1180+81G>A MANE Select	ENSP00000339801.6:n.1180+81G>A
ENST00000651111.1:c.547+81G>A	ENSP00000498395.1:n.547+81G>A
ENST00000340855.10:c.1180+81G>A	ENSP00000339801.6:n.1180+81G>A
ENST00000422081.6:c.547+81G>A	ENSP00000477056.1:n.547+81G>A
ENST00000441880.1:n.287+81G>A
NM_000202.6:c.1180+81G>A	NP_000193.1:n.1180+81G>A
NM_001166550.2:c.910+81G>A	NP_001160022.1:n.910+81G>A
NM_000202.7:c.1180+81G>A	NP_000193.1:n.1180+81G>A
NM_001166550.3:c.910+81G>A	NP_001160022.1:n.910+81G>A
NM_000202.8:c.1180+81G>A MANE Select	NP_000193.1:n.1180+81G>A
NM_001166550.4:c.910+81G>A	NP_001160022.1:n.910+81G>A