Canonical Allele Identifier: CA414517879

Gene: IDS

Linked Data

• gnomAD v4: X-149482865-C-G
• MyVariant Identifiers: chrX:g.148564396C>G (hg19) ; chrX:g.149482865C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149482865C>G , CM000685.2:g.149482865C>G	GRCh38
NC_000023.10:g.148564396C>G , CM000685.1:g.148564396C>G	GRCh37
NC_000023.9:g.148372301C>G	NCBI36
NG_011900.3:g.27470G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.1534G>C MANE Select	ENSP00000339801.6:p.Ala512Pro
ENST00000651111.1:c.901G>C	ENSP00000498395.1:p.Ala301Pro
ENST00000340855.10:c.1534G>C	ENSP00000339801.6:p.Ala512Pro
ENST00000422081.6:c.901G>C	ENSP00000477056.1:p.Ala301Pro
NM_000202.6:c.1534G>C	NP_000193.1:p.Ala512Pro
NM_001166550.2:c.1264G>C	NP_001160022.1:p.Ala422Pro
NM_000202.7:c.1534G>C	NP_000193.1:p.Ala512Pro
NM_001166550.3:c.1264G>C	NP_001160022.1:p.Ala422Pro
NM_000202.8:c.1534G>C MANE Select	NP_000193.1:p.Ala512Pro
NM_001166550.4:c.1264G>C	NP_001160022.1:p.Ala422Pro