Canonical Allele Identifier: CA346983
Gene: SLC52A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 210020
dbSNP Id: rs370499474
gnomAD v2: 20-744419-G-A
gnomAD v3: 20-763775-G-A
gnomAD v4: 20-763775-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.763775G>A , CM000682.2:g.763775G>A GRCh38
NC_000020.10:g.744419G>A , CM000682.1:g.744419G>A GRCh37
NC_000020.9:g.692419G>A NCBI36
NG_027687.1:g.9810C>T
NG_027687.2:g.17211C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000381944.5:c.796C>T ENSP00000371370.3:p.Arg266Trp
ENST00000473664.2:c.567+1433C>T ENSP00000502741.1:n.567+1433C>T
ENST00000488495.3:c.796C>T ENSP00000494009.1:p.Arg266Trp
ENST00000645534.1:c.796C>T MANE Select ENSP00000494193.1:p.Arg266Trp
ENST00000675066.1:c.796C>T ENSP00000501902.1:p.Arg266Trp
ENST00000217254.11:c.796C>T ENSP00000217254.7:p.Arg266Trp
ENST00000381944.4:c.796C>T ENSP00000371370.3:p.Arg266Trp
ENST00000473664.1:n.618+1433C>T
ENST00000632431.1:c.796C>T ENSP00000488723.1:p.Arg266Trp
NM_033409.3:c.796C>T NP_212134.3:p.Arg266Trp
XM_005260655.3:c.796C>T XP_005260712.1:p.Arg266Trp
XM_011529148.1:c.796C>T XP_011527450.1:p.Arg266Trp
XM_005260655.4:c.796C>T XP_005260712.1:p.Arg266Trp
XM_024451821.1:c.796C>T XP_024307589.1:p.Arg266Trp
NM_033409.4:c.796C>T MANE Select NP_212134.3:p.Arg266Trp
NM_001370085.1:c.796C>T NP_001357014.1:p.Arg266Trp
NM_001370086.1:c.796C>T NP_001357015.1:p.Arg266Trp