Canonical Allele Identifier: CA412895981

Gene: SLC35A2

Linked Data

• gnomAD v4: X-48905478-G-A
• MyVariant Identifiers: chrX:g.48762755G>A (hg19) ; chrX:g.48905478G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48905478G>A , CM000685.2:g.48905478G>A	GRCh38
NC_000023.10:g.48762755G>A , CM000685.1:g.48762755G>A	GRCh37
NC_000023.9:g.48647699G>A	NCBI36
NG_034300.1:g.11481C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000247138.11:c.431C>T MANE Select	ENSP00000247138.5:p.Thr144Ile
ENST00000247138.10:c.431C>T	ENSP00000247138.5:p.Thr144Ile
ENST00000376515.8:c.355-586C>T	ENSP00000365698.3:n.355-586C>T
ENST00000376521.6:c.431C>T	ENSP00000365704.1:p.Thr144Ile
ENST00000376529.8:c.427-586C>T	ENSP00000365712.3:n.427-586C>T
ENST00000413561.7:c.212-219C>T
ENST00000445167.7:c.427-586C>T	ENSP00000402726.2:n.427-586C>T
ENST00000446885.1:c.215C>T	ENSP00000415518.1:p.Thr72Ile
ENST00000452555.7:c.515C>T	ENSP00000416002.2:p.Thr172Ile
ENST00000616181.5:c.470C>T	ENSP00000478617.1:p.Thr157Ile
ENST00000634665.1:c.*51C>T	ENSP00000489356.1:n.*51C>T
ENST00000635238.1:c.392C>T	ENSP00000489515.1:p.Thr131Ile
ENST00000635285.1:c.431C>T	ENSP00000489484.1:p.Thr144Ile
ENST00000635460.1:c.424+914C>T
ENST00000635589.1:c.248C>T	ENSP00000489197.1:p.Thr83Ile
ENST00000635628.1:c.*325C>T	ENSP00000489613.1:n.*325C>T
NM_001032289.2:c.427-586C>T	NP_001027460.1:n.427-586C>T
NM_001042498.2:c.431C>T	NP_001035963.1:p.Thr144Ile
NM_001282647.1:c.427-586C>T	NP_001269576.1:n.427-586C>T
NM_001282648.1:c.355-586C>T	NP_001269577.1:n.355-586C>T
NM_001282649.1:c.248C>T	NP_001269578.1:p.Thr83Ile
NM_001282650.1:c.470C>T	NP_001269579.1:p.Thr157Ile
NM_001282651.1:c.515C>T	NP_001269580.1:p.Thr172Ile
NM_005660.2:c.431C>T	NP_005651.1:p.Thr144Ile
NM_005660.3:c.431C>T MANE Select	NP_005651.1:p.Thr144Ile
NM_001032289.3:c.427-586C>T	NP_001027460.1:n.427-586C>T
NM_001042498.3:c.431C>T	NP_001035963.1:p.Thr144Ile
NM_001282647.2:c.427-586C>T	NP_001269576.1:n.427-586C>T
NM_001282649.2:c.248C>T	NP_001269578.1:p.Thr83Ile
NM_001282650.2:c.470C>T	NP_001269579.1:p.Thr157Ile
NM_001282651.2:c.515C>T	NP_001269580.1:p.Thr172Ile
NM_001282648.2:c.355-586C>T	NP_001269577.1:n.355-586C>T