Canonical Allele Identifier: CA9724820
Gene: SLC52A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 476605
dbSNP Id: rs144337813
gnomAD v2: 20-746225-C-T
gnomAD v3: 20-765581-C-T
gnomAD v4: 20-765581-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.765581C>T , CM000682.2:g.765581C>T GRCh38
NC_000020.10:g.746225C>T , CM000682.1:g.746225C>T GRCh37
NC_000020.9:g.694225C>T NCBI36
NG_027687.1:g.8004G>A
NG_027687.2:g.15405G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000381944.5:c.194G>A ENSP00000371370.3:p.Arg65Gln
ENST00000473664.2:c.194G>A ENSP00000502741.1:p.Arg65Gln
ENST00000488495.3:c.194G>A ENSP00000494009.1:p.Arg65Gln
ENST00000645534.1:c.194G>A MANE Select ENSP00000494193.1:p.Arg65Gln
ENST00000675066.1:c.194G>A ENSP00000501902.1:p.Arg65Gln
ENST00000676154.1:c.194G>A ENSP00000501807.1:p.Arg65Gln
ENST00000217254.11:c.194G>A ENSP00000217254.7:p.Arg65Gln
ENST00000381944.4:c.194G>A ENSP00000371370.3:p.Arg65Gln
ENST00000473664.1:n.245G>A
ENST00000632431.1:c.194G>A ENSP00000488723.1:p.Arg65Gln
NM_033409.3:c.194G>A NP_212134.3:p.Arg65Gln
XM_005260655.3:c.194G>A XP_005260712.1:p.Arg65Gln
XM_011529148.1:c.194G>A XP_011527450.1:p.Arg65Gln
XM_005260655.4:c.194G>A XP_005260712.1:p.Arg65Gln
XM_024451821.1:c.194G>A XP_024307589.1:p.Arg65Gln
NM_033409.4:c.194G>A MANE Select NP_212134.3:p.Arg65Gln
NM_001370085.1:c.194G>A NP_001357014.1:p.Arg65Gln
NM_001370086.1:c.194G>A NP_001357015.1:p.Arg65Gln