Canonical Allele Identifier: CA10537454

Gene: IDS

Linked Data

• dbSNP Id: rs376811313
• ExAC: X:148564567 C / G
• gnomAD v2: X-148564567-C-G
• MyVariant Identifiers: chrX:g.148564567C>G (hg19) ; chrX:g.149483036C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149483036C>G , CM000685.2:g.149483036C>G	GRCh38
NC_000023.10:g.148564567C>G , CM000685.1:g.148564567C>G	GRCh37
NC_000023.9:g.148372472C>G	NCBI36
NG_011900.3:g.27299G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.1363G>C MANE Select	ENSP00000339801.6:p.Gly455Arg
ENST00000651111.1:c.730G>C	ENSP00000498395.1:p.Gly244Arg
ENST00000340855.10:c.1363G>C	ENSP00000339801.6:p.Gly455Arg
ENST00000422081.6:c.730G>C	ENSP00000477056.1:p.Gly244Arg
NM_000202.6:c.1363G>C	NP_000193.1:p.Gly455Arg
NM_001166550.2:c.1093G>C	NP_001160022.1:p.Gly365Arg
NM_000202.7:c.1363G>C	NP_000193.1:p.Gly455Arg
NM_001166550.3:c.1093G>C	NP_001160022.1:p.Gly365Arg
NM_000202.8:c.1363G>C MANE Select	NP_000193.1:p.Gly455Arg
NM_001166550.4:c.1093G>C	NP_001160022.1:p.Gly365Arg