Canonical Allele Identifier: CA2651546398

Gene: SLC52A3

Linked Data

• gnomAD v4: 20-760976-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.760976C>A , CM000682.2:g.760976C>A	GRCh38
NC_000020.10:g.741620C>A , CM000682.1:g.741620C>A	GRCh37
NC_000020.9:g.689620C>A	NCBI36
NG_027687.1:g.12609G>T
NG_027687.2:g.20010G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381944.5:c.*674G>T	ENSP00000371370.3:n.*674G>T
ENST00000473664.2:c.954G>T	ENSP00000502741.1:p.Gln318His
ENST00000488495.3:c.*50G>T	ENSP00000494009.1:n.*50G>T
ENST00000645534.1:c.*50G>T MANE Select	ENSP00000494193.1:n.*50G>T
ENST00000217254.11:c.*50G>T	ENSP00000217254.7:n.*50G>T
ENST00000381944.4:c.*674G>T	ENSP00000371370.3:n.*674G>T
ENST00000632431.1:c.*50G>T	ENSP00000488723.1:n.*50G>T
NM_033409.3:c.*50G>T	NP_212134.3:n.*50G>T
XM_005260655.3:c.*50G>T	XP_005260712.1:n.*50G>T
XM_011529148.1:c.*50G>T	XP_011527450.1:n.*50G>T
XM_005260655.4:c.*50G>T	XP_005260712.1:n.*50G>T
XM_024451821.1:c.*50G>T	XP_024307589.1:n.*50G>T
NM_033409.4:c.*50G>T MANE Select	NP_212134.3:n.*50G>T
NM_001370085.1:c.*50G>T	NP_001357014.1:n.*50G>T
NM_001370086.1:c.*50G>T	NP_001357015.1:n.*50G>T