Canonical Allele Identifier: CA412893980

Gene: SLC35A2

Linked Data

• gnomAD v4: X-48904759-G-T
• MyVariant Identifiers: chrX:g.48762036G>T (hg19) ; chrX:g.48904759G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48904759G>T , CM000685.2:g.48904759G>T	GRCh38
NC_000023.10:g.48762036G>T , CM000685.1:g.48762036G>T	GRCh37
NC_000023.9:g.48646980G>T	NCBI36
NG_015967.1:g.11842G>T
NG_034300.1:g.12200C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247138.11:c.1150C>A MANE Select	ENSP00000247138.5:p.Pro384Thr
ENST00000247138.10:c.1150C>A	ENSP00000247138.5:p.Pro384Thr
ENST00000376515.8:c.488C>A	ENSP00000365698.3:p.Ala163Asp
ENST00000376521.6:c.1150C>A	ENSP00000365704.1:p.Pro384Thr
ENST00000376529.8:c.560C>A	ENSP00000365712.3:p.Ala187Asp
ENST00000413561.7:c.712C>A
ENST00000445167.7:c.560C>A	ENSP00000402726.2:p.Ala187Asp
ENST00000452555.7:c.1234C>A	ENSP00000416002.2:p.Pro412Thr
ENST00000616181.5:c.1189C>A	ENSP00000478617.1:p.Pro397Thr
ENST00000635285.1:c.1150C>A	ENSP00000489484.1:p.Pro384Thr
ENST00000635460.1:c.425-1294C>A
ENST00000635589.1:c.967C>A	ENSP00000489197.1:p.Pro323Thr
ENST00000635628.1:c.*1044C>A	ENSP00000489613.1:n.*1044C>A
NM_001032289.2:c.560C>A	NP_001027460.1:p.Ala187Asp
NM_001042498.2:c.1150C>A	NP_001035963.1:p.Pro384Thr
NM_001282647.1:c.560C>A	NP_001269576.1:p.Ala187Asp
NM_001282648.1:c.488C>A	NP_001269577.1:p.Ala163Asp
NM_001282649.1:c.967C>A	NP_001269578.1:p.Pro323Thr
NM_001282650.1:c.1189C>A	NP_001269579.1:p.Pro397Thr
NM_001282651.1:c.1234C>A	NP_001269580.1:p.Pro412Thr
NM_005660.2:c.1150C>A	NP_005651.1:p.Pro384Thr
NM_005660.3:c.1150C>A MANE Select	NP_005651.1:p.Pro384Thr
NM_001032289.3:c.560C>A	NP_001027460.1:p.Ala187Asp
NM_001042498.3:c.1150C>A	NP_001035963.1:p.Pro384Thr
NM_001282647.2:c.560C>A	NP_001269576.1:p.Ala187Asp
NM_001282649.2:c.967C>A	NP_001269578.1:p.Pro323Thr
NM_001282650.2:c.1189C>A	NP_001269579.1:p.Pro397Thr
NM_001282651.2:c.1234C>A	NP_001269580.1:p.Pro412Thr
NM_001282648.2:c.488C>A	NP_001269577.1:p.Ala163Asp