Canonical Allele Identifier: CA516359926
Gene: SLC35A2 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.48762298G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48905021G>T , CM000685.2:g.48905021G>T GRCh38
NC_000023.10:g.48762298G>T , CM000685.1:g.48762298G>T GRCh37
NC_000023.9:g.48647242G>T NCBI36
NG_015967.1:g.12104G>T
NG_034300.1:g.11938C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000247138.11:c.888C>A MANE Select ENSP00000247138.5:p.Leu296=
ENST00000247138.10:c.888C>A ENSP00000247138.5:p.Leu296=
ENST00000376515.8:c.355-129C>A ENSP00000365698.3:n.355-129C>A
ENST00000376521.6:c.888C>A ENSP00000365704.1:p.Leu296=
ENST00000376529.8:c.427-129C>A ENSP00000365712.3:n.427-129C>A
ENST00000413561.7:c.450C>A
ENST00000445167.7:c.427-129C>A ENSP00000402726.2:n.427-129C>A
ENST00000452555.7:c.972C>A ENSP00000416002.2:p.Leu324=
ENST00000616181.5:c.927C>A ENSP00000478617.1:p.Leu309=
ENST00000635285.1:c.888C>A ENSP00000489484.1:p.Leu296=
ENST00000635460.1:c.424+1371C>A
ENST00000635589.1:c.705C>A ENSP00000489197.1:p.Leu235=
ENST00000635628.1:c.*782C>A ENSP00000489613.1:n.*782C>A
NM_001032289.2:c.427-129C>A NP_001027460.1:n.427-129C>A
NM_001042498.2:c.888C>A NP_001035963.1:p.Leu296=
NM_001282647.1:c.427-129C>A NP_001269576.1:n.427-129C>A
NM_001282648.1:c.355-129C>A NP_001269577.1:n.355-129C>A
NM_001282649.1:c.705C>A NP_001269578.1:p.Leu235=
NM_001282650.1:c.927C>A NP_001269579.1:p.Leu309=
NM_001282651.1:c.972C>A NP_001269580.1:p.Leu324=
NM_005660.2:c.888C>A NP_005651.1:p.Leu296=
NM_005660.3:c.888C>A MANE Select NP_005651.1:p.Leu296=
NM_001032289.3:c.427-129C>A NP_001027460.1:n.427-129C>A
NM_001042498.3:c.888C>A NP_001035963.1:p.Leu296=
NM_001282647.2:c.427-129C>A NP_001269576.1:n.427-129C>A
NM_001282649.2:c.705C>A NP_001269578.1:p.Leu235=
NM_001282650.2:c.927C>A NP_001269579.1:p.Leu309=
NM_001282651.2:c.972C>A NP_001269580.1:p.Leu324=
NM_001282648.2:c.355-129C>A NP_001269577.1:n.355-129C>A