Canonical Allele Identifier: CA2345348014

Gene: SLC52A3

Linked Data

• dbSNP Id: rs1489172123

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.760985A>T , CM000682.2:g.760985A>T	GRCh38
NC_000020.10:g.741629A>T , CM000682.1:g.741629A>T	GRCh37
NC_000020.9:g.689629A>T	NCBI36
NG_027687.1:g.12600T>A
NG_027687.2:g.20001T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381944.5:c.*665T>A	ENSP00000371370.3:n.*665T>A
ENST00000473664.2:c.945T>A	ENSP00000502741.1:p.Thr315=
ENST00000488495.3:c.*41T>A	ENSP00000494009.1:n.*41T>A
ENST00000645534.1:c.*41T>A MANE Select	ENSP00000494193.1:n.*41T>A
ENST00000217254.11:c.*41T>A	ENSP00000217254.7:n.*41T>A
ENST00000381944.4:c.*665T>A	ENSP00000371370.3:n.*665T>A
ENST00000632431.1:c.*41T>A	ENSP00000488723.1:n.*41T>A
NM_033409.3:c.*41T>A	NP_212134.3:n.*41T>A
XM_005260655.3:c.*41T>A	XP_005260712.1:n.*41T>A
XM_011529148.1:c.*41T>A	XP_011527450.1:n.*41T>A
XM_005260655.4:c.*41T>A	XP_005260712.1:n.*41T>A
XM_024451821.1:c.*41T>A	XP_024307589.1:n.*41T>A
NM_033409.4:c.*41T>A MANE Select	NP_212134.3:n.*41T>A
NM_001370085.1:c.*41T>A	NP_001357014.1:n.*41T>A
NM_001370086.1:c.*41T>A	NP_001357015.1:n.*41T>A