Canonical Allele Identifier: CA339796
Gene: SLC52A3 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 143
ClinVar RCV Id: RCV000000166
dbSNP Id: rs267606686

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.765669C>T , CM000682.2:g.765669C>T GRCh38
NC_000020.10:g.746313C>T , CM000682.1:g.746313C>T GRCh37
NC_000020.9:g.694313C>T NCBI36
NG_027687.1:g.7916G>A

Transcript Alleles

HGVS Amino-acid change
NM_033409.3:c.106G>A VV NP_212134.3:p.Glu36Lys
XM_005260655.3:c.106G>A XP_005260712.1:p.Glu36Lys
XM_011529148.1:c.106G>A XP_011527450.1:p.Glu36Lys
XM_005260655.4:c.106G>A
XM_024451821.1:c.106G>A XP_024307589.1:p.Glu36Lys
NM_033409.4:c.106G>A VV MANE Preferred
ENST00000217254.11:c.106G>A ENSP00000217254.7:p.Glu36Lys
ENST00000381944.4:c.106G>A ENSP00000371370.3:p.Glu36Lys
ENST00000473664.1:n.157G>A
ENST00000632431.1:c.106G>A ENSP00000488723.1:p.Glu36Lys