Canonical Allele Identifier: CA407961889

Gene: SLC52A3

Linked Data

• ClinVar Variation Id: 488380
• ClinVar RCV Id: RCV000578156
• dbSNP Id: rs1555783467
• MyVariant Identifiers: chr20:g.741764C>T (hg19) ; chr20:g.761120C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.761120C>T , CM000682.2:g.761120C>T	GRCh38
NC_000020.10:g.741764C>T , CM000682.1:g.741764C>T	GRCh37
NC_000020.9:g.689764C>T	NCBI36
NG_027687.1:g.12465G>A
NG_027687.2:g.19866G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381944.5:c.*530G>A	ENSP00000371370.3:n.*530G>A
ENST00000473664.2:c.810G>A	ENSP00000502741.1:p.Gly270=
ENST00000488495.3:c.1316G>A	ENSP00000494009.1:p.Gly439Asp
ENST00000645534.1:c.1316G>A MANE Select	ENSP00000494193.1:p.Gly439Asp
ENST00000217254.11:c.1316G>A	ENSP00000217254.7:p.Gly439Asp
ENST00000381944.4:c.*530G>A	ENSP00000371370.3:n.*530G>A
ENST00000473664.1:n.861G>A
ENST00000632431.1:c.1316G>A	ENSP00000488723.1:p.Gly439Asp
NM_033409.3:c.1316G>A	NP_212134.3:p.Gly439Asp
XM_005260655.3:c.1316G>A	XP_005260712.1:p.Gly439Asp
XM_011529148.1:c.1316G>A	XP_011527450.1:p.Gly439Asp
XM_005260655.4:c.1316G>A	XP_005260712.1:p.Gly439Asp
XM_024451821.1:c.1316G>A	XP_024307589.1:p.Gly439Asp
NM_033409.4:c.1316G>A MANE Select	NP_212134.3:p.Gly439Asp
NM_001370085.1:c.1316G>A	NP_001357014.1:p.Gly439Asp
NM_001370086.1:c.1316G>A	NP_001357015.1:p.Gly439Asp