Canonical Allele Identifier: CA2651546394

Gene: SLC52A3

Linked Data

• gnomAD v4: 20-760970-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.760970G>T , CM000682.2:g.760970G>T	GRCh38
NC_000020.10:g.741614G>T , CM000682.1:g.741614G>T	GRCh37
NC_000020.9:g.689614G>T	NCBI36
NG_027687.1:g.12615C>A
NG_027687.2:g.20016C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381944.5:c.*680C>A	ENSP00000371370.3:n.*680C>A
ENST00000473664.2:c.960C>A	ENSP00000502741.1:p.Gly320=
ENST00000488495.3:c.*56C>A	ENSP00000494009.1:n.*56C>A
ENST00000645534.1:c.*56C>A MANE Select	ENSP00000494193.1:n.*56C>A
ENST00000217254.11:c.*56C>A	ENSP00000217254.7:n.*56C>A
ENST00000381944.4:c.*680C>A	ENSP00000371370.3:n.*680C>A
ENST00000632431.1:c.*56C>A	ENSP00000488723.1:n.*56C>A
NM_033409.3:c.*56C>A	NP_212134.3:n.*56C>A
XM_005260655.3:c.*56C>A	XP_005260712.1:n.*56C>A
XM_011529148.1:c.*56C>A	XP_011527450.1:n.*56C>A
XM_005260655.4:c.*56C>A	XP_005260712.1:n.*56C>A
XM_024451821.1:c.*56C>A	XP_024307589.1:n.*56C>A
NM_033409.4:c.*56C>A MANE Select	NP_212134.3:n.*56C>A
NM_001370085.1:c.*56C>A	NP_001357014.1:n.*56C>A
NM_001370086.1:c.*56C>A	NP_001357015.1:n.*56C>A