Canonical Allele Identifier: CA10537473

Gene: IDS

Linked Data

• dbSNP Id: rs782711044
• ExAC: X:148564694 T / C
• gnomAD v2: X-148564694-T-C
• gnomAD v4: X-149483163-T-C
• MyVariant Identifiers: chrX:g.148564694T>C (hg19) ; chrX:g.149483163T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149483163T>C , CM000685.2:g.149483163T>C	GRCh38
NC_000023.10:g.148564694T>C , CM000685.1:g.148564694T>C	GRCh37
NC_000023.9:g.148372599T>C	NCBI36
NG_011900.3:g.27172A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.1236A>G MANE Select	ENSP00000339801.6:p.Gly412=
ENST00000651111.1:c.603A>G	ENSP00000498395.1:p.Gly201=
ENST00000340855.10:c.1236A>G	ENSP00000339801.6:p.Gly412=
ENST00000422081.6:c.603A>G	ENSP00000477056.1:p.Gly201=
ENST00000441880.1:n.343A>G
NM_000202.6:c.1236A>G	NP_000193.1:p.Gly412=
NM_001166550.2:c.966A>G	NP_001160022.1:p.Gly322=
NM_000202.7:c.1236A>G	NP_000193.1:p.Gly412=
NM_001166550.3:c.966A>G	NP_001160022.1:p.Gly322=
NM_000202.8:c.1236A>G MANE Select	NP_000193.1:p.Gly412=
NM_001166550.4:c.966A>G	NP_001160022.1:p.Gly322=