Canonical Allele Identifier: CA412895790

Gene: SLC35A2

Linked Data

• MyVariant Identifiers: chrX:g.48762665A>T (hg19) ; chrX:g.48905388A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48905388A>T , CM000685.2:g.48905388A>T	GRCh38
NC_000023.10:g.48762665A>T , CM000685.1:g.48762665A>T	GRCh37
NC_000023.9:g.48647609A>T	NCBI36
NG_034300.1:g.11571T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247138.11:c.521T>A MANE Select	ENSP00000247138.5:p.Leu174His
ENST00000247138.10:c.521T>A	ENSP00000247138.5:p.Leu174His
ENST00000376515.8:c.355-496T>A	ENSP00000365698.3:n.355-496T>A
ENST00000376521.6:c.521T>A	ENSP00000365704.1:p.Leu174His
ENST00000376529.8:c.427-496T>A	ENSP00000365712.3:n.427-496T>A
ENST00000413561.7:c.212-129T>A
ENST00000445167.7:c.427-496T>A	ENSP00000402726.2:n.427-496T>A
ENST00000446885.1:c.305T>A	ENSP00000415518.1:p.Leu102His
ENST00000452555.7:c.605T>A	ENSP00000416002.2:p.Leu202His
ENST00000616181.5:c.560T>A	ENSP00000478617.1:p.Leu187His
ENST00000635238.1:c.482T>A	ENSP00000489515.1:p.Leu161His
ENST00000635285.1:c.521T>A	ENSP00000489484.1:p.Leu174His
ENST00000635460.1:c.424+1004T>A
ENST00000635589.1:c.338T>A	ENSP00000489197.1:p.Leu113His
ENST00000635628.1:c.*415T>A	ENSP00000489613.1:n.*415T>A
NM_001032289.2:c.427-496T>A	NP_001027460.1:n.427-496T>A
NM_001042498.2:c.521T>A	NP_001035963.1:p.Leu174His
NM_001282647.1:c.427-496T>A	NP_001269576.1:n.427-496T>A
NM_001282648.1:c.355-496T>A	NP_001269577.1:n.355-496T>A
NM_001282649.1:c.338T>A	NP_001269578.1:p.Leu113His
NM_001282650.1:c.560T>A	NP_001269579.1:p.Leu187His
NM_001282651.1:c.605T>A	NP_001269580.1:p.Leu202His
NM_005660.2:c.521T>A	NP_005651.1:p.Leu174His
NM_005660.3:c.521T>A MANE Select	NP_005651.1:p.Leu174His
NM_001032289.3:c.427-496T>A	NP_001027460.1:n.427-496T>A
NM_001042498.3:c.521T>A	NP_001035963.1:p.Leu174His
NM_001282647.2:c.427-496T>A	NP_001269576.1:n.427-496T>A
NM_001282649.2:c.338T>A	NP_001269578.1:p.Leu113His
NM_001282650.2:c.560T>A	NP_001269579.1:p.Leu187His
NM_001282651.2:c.605T>A	NP_001269580.1:p.Leu202His
NM_001282648.2:c.355-496T>A	NP_001269577.1:n.355-496T>A