Canonical Allele Identifier: CA310673778
Gene: SLC52A3 HGNC NCBI

Linked Data

dbSNP Id: rs552270421
gnomAD v3: 20-760895-C-G
gnomAD v4: 20-760895-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.760895C>G , CM000682.2:g.760895C>G GRCh38
NC_000020.10:g.741539C>G , CM000682.1:g.741539C>G GRCh37
NC_000020.9:g.689539C>G NCBI36
NG_027687.1:g.12690G>C
NG_027687.2:g.20091G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000381944.5:c.*755G>C ENSP00000371370.3:n.*755G>C
ENST00000473664.2:c.*24G>C ENSP00000502741.1:n.*24G>C
ENST00000488495.3:c.*131G>C ENSP00000494009.1:n.*131G>C
ENST00000645534.1:c.*131G>C MANE Select ENSP00000494193.1:n.*131G>C
ENST00000217254.11:c.*131G>C ENSP00000217254.7:n.*131G>C
ENST00000381944.4:c.*755G>C ENSP00000371370.3:n.*755G>C
ENST00000632431.1:c.*131G>C ENSP00000488723.1:n.*131G>C
NM_033409.3:c.*131G>C NP_212134.3:n.*131G>C
XM_005260655.3:c.*131G>C XP_005260712.1:n.*131G>C
XM_011529148.1:c.*131G>C XP_011527450.1:n.*131G>C
XM_005260655.4:c.*131G>C XP_005260712.1:n.*131G>C
XM_024451821.1:c.*131G>C XP_024307589.1:n.*131G>C
NM_033409.4:c.*131G>C MANE Select NP_212134.3:n.*131G>C
NM_001370085.1:c.*131G>C NP_001357014.1:n.*131G>C
NM_001370086.1:c.*131G>C NP_001357015.1:n.*131G>C