Canonical Allele Identifier: CA414518824

Gene: IDS

Linked Data

• dbSNP Id: rs1557338128
• gnomAD v2: X-148568531-A-G
• gnomAD v4: X-149487000-A-G
• MyVariant Identifiers: chrX:g.148568531A>G (hg19) ; chrX:g.149487000A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149487000A>G , CM000685.2:g.149487000A>G	GRCh38
NC_000023.10:g.148568531A>G , CM000685.1:g.148568531A>G	GRCh37
NC_000023.9:g.148376436A>G	NCBI36
NG_011900.3:g.23335T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.1105T>C MANE Select	ENSP00000339801.6:p.Ser369Pro
ENST00000651111.1:c.472T>C	ENSP00000498395.1:p.Ser158Pro
ENST00000340855.10:c.1105T>C	ENSP00000339801.6:p.Ser369Pro
ENST00000422081.6:c.472T>C	ENSP00000477056.1:p.Ser158Pro
ENST00000441880.1:n.212T>C
NM_000202.6:c.1105T>C	NP_000193.1:p.Ser369Pro
NM_001166550.2:c.835T>C	NP_001160022.1:p.Ser279Pro
NM_000202.7:c.1105T>C	NP_000193.1:p.Ser369Pro
NM_001166550.3:c.835T>C	NP_001160022.1:p.Ser279Pro
NM_000202.8:c.1105T>C MANE Select	NP_000193.1:p.Ser369Pro
NM_001166550.4:c.835T>C	NP_001160022.1:p.Ser279Pro