Canonical Allele Identifier: CA2651546311
Gene: SLC52A3 HGNC NCBI

Linked Data

gnomAD v4: 20-760883-T-TC

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.760887dup , CM000682.2:g.760887dup GRCh38
NC_000020.10:g.741531dup , CM000682.1:g.741531dup GRCh37
NC_000020.9:g.689531dup NCBI36
NG_027687.1:g.12701dup
NG_027687.2:g.20102dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000381944.5:c.*766dup ENSP00000371370.3:n.*766dup
ENST00000473664.2:c.*35dup ENSP00000502741.1:n.*35dup
ENST00000488495.3:c.*142dup ENSP00000494009.1:n.*142dup
ENST00000645534.1:c.*142dup MANE Select ENSP00000494193.1:n.*142dup
ENST00000217254.11:c.*142dup ENSP00000217254.7:n.*142dup
ENST00000381944.4:c.*766dup ENSP00000371370.3:n.*766dup
ENST00000632431.1:c.*142dup ENSP00000488723.1:n.*142dup
NM_033409.3:c.*142dup NP_212134.3:n.*142dup
XM_005260655.3:c.*142dup XP_005260712.1:n.*142dup
XM_011529148.1:c.*142dup XP_011527450.1:n.*142dup
XM_005260655.4:c.*142dup XP_005260712.1:n.*142dup
XM_024451821.1:c.*142dup XP_024307589.1:n.*142dup
NM_033409.4:c.*142dup MANE Select NP_212134.3:n.*142dup
NM_001370085.1:c.*142dup NP_001357014.1:n.*142dup
NM_001370086.1:c.*142dup NP_001357015.1:n.*142dup