Canonical Allele Identifier: CA339792
Gene: SLC52A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 140
ClinVar RCV Id: RCV000000163
dbSNP Id: rs267606683
gnomAD v4: 20-765564-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.765564C>A , CM000682.2:g.765564C>A GRCh38
NC_000020.10:g.746208C>A , CM000682.1:g.746208C>A GRCh37
NC_000020.9:g.694208C>A NCBI36
NG_027687.1:g.8021G>T
NG_027687.2:g.15422G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000381944.5:c.211G>T ENSP00000371370.3:p.Glu71Ter
ENST00000473664.2:c.211G>T ENSP00000502741.1:p.Glu71Ter
ENST00000488495.3:c.211G>T ENSP00000494009.1:p.Glu71Ter
ENST00000645534.1:c.211G>T MANE Select ENSP00000494193.1:p.Glu71Ter
ENST00000675066.1:c.211G>T ENSP00000501902.1:p.Glu71Ter
ENST00000676154.1:c.211G>T ENSP00000501807.1:p.Glu71Ter
ENST00000217254.11:c.211G>T ENSP00000217254.7:p.Glu71Ter
ENST00000381944.4:c.211G>T ENSP00000371370.3:p.Glu71Ter
ENST00000473664.1:n.262G>T
ENST00000632431.1:c.211G>T ENSP00000488723.1:p.Glu71Ter
NM_033409.3:c.211G>T NP_212134.3:p.Glu71Ter
XM_005260655.3:c.211G>T XP_005260712.1:p.Glu71Ter
XM_011529148.1:c.211G>T XP_011527450.1:p.Glu71Ter
XM_005260655.4:c.211G>T XP_005260712.1:p.Glu71Ter
XM_024451821.1:c.211G>T XP_024307589.1:p.Glu71Ter
NM_033409.4:c.211G>T MANE Select NP_212134.3:p.Glu71Ter
NM_001370085.1:c.211G>T NP_001357014.1:p.Glu71Ter
NM_001370086.1:c.211G>T NP_001357015.1:p.Glu71Ter