Canonical Allele Identifier: CA10537442

Gene: IDS

Linked Data

• dbSNP Id: rs782189099
• ExAC: X:148564472 C / T
• gnomAD v2: X-148564472-C-T
• gnomAD v4: X-149482941-C-T
• MyVariant Identifiers: chrX:g.148564472C>T (hg19) ; chrX:g.149482941C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149482941C>T , CM000685.2:g.149482941C>T	GRCh38
NC_000023.10:g.148564472C>T , CM000685.1:g.148564472C>T	GRCh37
NC_000023.9:g.148372377C>T	NCBI36
NG_011900.3:g.27394G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000340855.11:c.1458G>A MANE Select	ENSP00000339801.6:p.Lys486=
ENST00000651111.1:c.825G>A	ENSP00000498395.1:p.Lys275=
ENST00000340855.10:c.1458G>A	ENSP00000339801.6:p.Lys486=
ENST00000422081.6:c.825G>A	ENSP00000477056.1:p.Lys275=
NM_000202.6:c.1458G>A	NP_000193.1:p.Lys486=
NM_001166550.2:c.1188G>A	NP_001160022.1:p.Lys396=
NM_000202.7:c.1458G>A	NP_000193.1:p.Lys486=
NM_001166550.3:c.1188G>A	NP_001160022.1:p.Lys396=
NM_000202.8:c.1458G>A MANE Select	NP_000193.1:p.Lys486=
NM_001166550.4:c.1188G>A	NP_001160022.1:p.Lys396=