Canonical Allele Identifier: CA920149547
Gene: SLC52A3 HGNC NCBI

Linked Data

dbSNP Id: rs1568725706
gnomAD v4: 20-765936-G-GC

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.765937dup , CM000682.2:g.765937dup GRCh38
NC_000020.10:g.746581dup , CM000682.1:g.746581dup GRCh37
NC_000020.9:g.694581dup NCBI36
NG_027687.1:g.7648dup
NG_027687.2:g.15049dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000381944.5:c.-51-112dup ENSP00000371370.3:n.-51-112dup
ENST00000488495.3:c.-163dup ENSP00000494009.1:n.-163dup
ENST00000645534.1:c.-51-112dup MANE Select ENSP00000494193.1:n.-51-112dup
ENST00000674666.1:c.-163dup ENSP00000502783.1:n.-163dup
ENST00000675066.1:c.-51-112dup ENSP00000501902.1:n.-51-112dup
ENST00000676154.1:c.-51-112dup ENSP00000501807.1:n.-51-112dup
ENST00000217254.11:c.-51-112dup ENSP00000217254.7:n.-51-112dup
ENST00000381944.4:c.-51-112dup ENSP00000371370.3:n.-51-112dup
ENST00000632431.1:c.-51-112dup ENSP00000488723.1:n.-51-112dup
NM_033409.3:c.-51-112dup NP_212134.3:n.-51-112dup
XM_005260655.3:c.-51-112dup XP_005260712.1:n.-51-112dup
XM_011529148.1:c.-163dup XP_011527450.1:n.-163dup
XM_005260655.4:c.-51-112dup XP_005260712.1:n.-51-112dup
XM_024451821.1:c.-51-112dup XP_024307589.1:n.-51-112dup
NM_033409.4:c.-51-112dup MANE Select NP_212134.3:n.-51-112dup
NM_001370085.1:c.-51-112dup NP_001357014.1:n.-51-112dup
NM_001370086.1:c.-163dup NP_001357015.1:n.-163dup