Canonical Allele Identifier: CA412895855

Gene: SLC35A2

Linked Data

• gnomAD v4: X-48905420-G-T
• MyVariant Identifiers: chrX:g.48762697G>T (hg19) ; chrX:g.48905420G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48905420G>T , CM000685.2:g.48905420G>T	GRCh38
NC_000023.10:g.48762697G>T , CM000685.1:g.48762697G>T	GRCh37
NC_000023.9:g.48647641G>T	NCBI36
NG_034300.1:g.11539C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247138.11:c.489C>A MANE Select	ENSP00000247138.5:p.Ser163Arg
ENST00000247138.10:c.489C>A	ENSP00000247138.5:p.Ser163Arg
ENST00000376515.8:c.355-528C>A	ENSP00000365698.3:n.355-528C>A
ENST00000376521.6:c.489C>A	ENSP00000365704.1:p.Ser163Arg
ENST00000376529.8:c.427-528C>A	ENSP00000365712.3:n.427-528C>A
ENST00000413561.7:c.212-161C>A
ENST00000445167.7:c.427-528C>A	ENSP00000402726.2:n.427-528C>A
ENST00000446885.1:c.273C>A	ENSP00000415518.1:p.Ser91Arg
ENST00000452555.7:c.573C>A	ENSP00000416002.2:p.Ser191Arg
ENST00000616181.5:c.528C>A	ENSP00000478617.1:p.Ser176Arg
ENST00000634665.1:c.*109C>A	ENSP00000489356.1:n.*109C>A
ENST00000635238.1:c.450C>A	ENSP00000489515.1:p.Ser150Arg
ENST00000635285.1:c.489C>A	ENSP00000489484.1:p.Ser163Arg
ENST00000635460.1:c.424+972C>A
ENST00000635589.1:c.306C>A	ENSP00000489197.1:p.Ser102Arg
ENST00000635628.1:c.*383C>A	ENSP00000489613.1:n.*383C>A
NM_001032289.2:c.427-528C>A	NP_001027460.1:n.427-528C>A
NM_001042498.2:c.489C>A	NP_001035963.1:p.Ser163Arg
NM_001282647.1:c.427-528C>A	NP_001269576.1:n.427-528C>A
NM_001282648.1:c.355-528C>A	NP_001269577.1:n.355-528C>A
NM_001282649.1:c.306C>A	NP_001269578.1:p.Ser102Arg
NM_001282650.1:c.528C>A	NP_001269579.1:p.Ser176Arg
NM_001282651.1:c.573C>A	NP_001269580.1:p.Ser191Arg
NM_005660.2:c.489C>A	NP_005651.1:p.Ser163Arg
NM_005660.3:c.489C>A MANE Select	NP_005651.1:p.Ser163Arg
NM_001032289.3:c.427-528C>A	NP_001027460.1:n.427-528C>A
NM_001042498.3:c.489C>A	NP_001035963.1:p.Ser163Arg
NM_001282647.2:c.427-528C>A	NP_001269576.1:n.427-528C>A
NM_001282649.2:c.306C>A	NP_001269578.1:p.Ser102Arg
NM_001282650.2:c.528C>A	NP_001269579.1:p.Ser176Arg
NM_001282651.2:c.573C>A	NP_001269580.1:p.Ser191Arg
NM_001282648.2:c.355-528C>A	NP_001269577.1:n.355-528C>A