Canonical Allele Identifier: CA9724537

Gene: SLC52A3

Linked Data

• ClinVar Variation Id: 1361335
• ClinVar RCV Id: RCV001907487
• dbSNP Id: rs765645474
• ExAC: 20:741854 C / T
• gnomAD v2: 20-741854-C-T
• gnomAD v4: 20-761210-C-T
• MyVariant Identifiers: chr20:g.741854C>T (hg19) ; chr20:g.761210C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.761210C>T , CM000682.2:g.761210C>T	GRCh38
NC_000020.10:g.741854C>T , CM000682.1:g.741854C>T	GRCh37
NC_000020.9:g.689854C>T	NCBI36
NG_027687.1:g.12375G>A
NG_027687.2:g.19776G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000381944.5:c.*440G>A	ENSP00000371370.3:n.*440G>A
ENST00000473664.2:c.720G>A	ENSP00000502741.1:p.Leu240=
ENST00000488495.3:c.1226G>A	ENSP00000494009.1:p.Cys409Tyr
ENST00000645534.1:c.1226G>A MANE Select	ENSP00000494193.1:p.Cys409Tyr
ENST00000217254.11:c.1226G>A	ENSP00000217254.7:p.Cys409Tyr
ENST00000381944.4:c.*440G>A	ENSP00000371370.3:n.*440G>A
ENST00000473664.1:n.771G>A
ENST00000632431.1:c.1226G>A	ENSP00000488723.1:p.Cys409Tyr
NM_033409.3:c.1226G>A	NP_212134.3:p.Cys409Tyr
XM_005260655.3:c.1226G>A	XP_005260712.1:p.Cys409Tyr
XM_011529148.1:c.1226G>A	XP_011527450.1:p.Cys409Tyr
XM_005260655.4:c.1226G>A	XP_005260712.1:p.Cys409Tyr
XM_024451821.1:c.1226G>A	XP_024307589.1:p.Cys409Tyr
NM_033409.4:c.1226G>A MANE Select	NP_212134.3:p.Cys409Tyr
NM_001370085.1:c.1226G>A	NP_001357014.1:p.Cys409Tyr
NM_001370086.1:c.1226G>A	NP_001357015.1:p.Cys409Tyr