Canonical Allele Identifier: CA9724675
Gene: SLC52A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1378738
ClinVar RCV Id: RCV001881307
dbSNP Id: rs377559449
gnomAD v2: 20-744401-C-G
gnomAD v3: 20-763757-C-G
gnomAD v4: 20-763757-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.763757C>G , CM000682.2:g.763757C>G GRCh38
NC_000020.10:g.744401C>G , CM000682.1:g.744401C>G GRCh37
NC_000020.9:g.692401C>G NCBI36
NG_027687.1:g.9828G>C
NG_027687.2:g.17229G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000381944.5:c.814G>C ENSP00000371370.3:p.Asp272His
ENST00000473664.2:c.567+1451G>C ENSP00000502741.1:n.567+1451G>C
ENST00000488495.3:c.814G>C ENSP00000494009.1:p.Asp272His
ENST00000645534.1:c.814G>C MANE Select ENSP00000494193.1:p.Asp272His
ENST00000675066.1:c.814G>C ENSP00000501902.1:p.Asp272His
ENST00000217254.11:c.814G>C ENSP00000217254.7:p.Asp272His
ENST00000381944.4:c.814G>C ENSP00000371370.3:p.Asp272His
ENST00000473664.1:n.618+1451G>C
ENST00000632431.1:c.814G>C ENSP00000488723.1:p.Asp272His
NM_033409.3:c.814G>C NP_212134.3:p.Asp272His
XM_005260655.3:c.814G>C XP_005260712.1:p.Asp272His
XM_011529148.1:c.814G>C XP_011527450.1:p.Asp272His
XM_005260655.4:c.814G>C XP_005260712.1:p.Asp272His
XM_024451821.1:c.814G>C XP_024307589.1:p.Asp272His
NM_033409.4:c.814G>C MANE Select NP_212134.3:p.Asp272His
NM_001370085.1:c.814G>C NP_001357014.1:p.Asp272His
NM_001370086.1:c.814G>C NP_001357015.1:p.Asp272His