Canonical Allele Identifier: CA2579719125

Gene: IDS

Linked Data

• gnomAD v4: X-149483286-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149483286G>T , CM000685.2:g.149483286G>T	GRCh38
NC_000023.10:g.148564817G>T , CM000685.1:g.148564817G>T	GRCh37
NC_000023.9:g.148372722G>T	NCBI36
NG_011900.3:g.27049C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.1181-68C>A MANE Select	ENSP00000339801.6:n.1181-68C>A
ENST00000651111.1:c.548-68C>A	ENSP00000498395.1:n.548-68C>A
ENST00000340855.10:c.1181-68C>A	ENSP00000339801.6:n.1181-68C>A
ENST00000422081.6:c.548-68C>A	ENSP00000477056.1:n.548-68C>A
ENST00000441880.1:n.288-68C>A
NM_000202.6:c.1181-68C>A	NP_000193.1:n.1181-68C>A
NM_001166550.2:c.911-68C>A	NP_001160022.1:n.911-68C>A
NM_000202.7:c.1181-68C>A	NP_000193.1:n.1181-68C>A
NM_001166550.3:c.911-68C>A	NP_001160022.1:n.911-68C>A
NM_000202.8:c.1181-68C>A MANE Select	NP_000193.1:n.1181-68C>A
NM_001166550.4:c.911-68C>A	NP_001160022.1:n.911-68C>A