Canonical Allele Identifier: CA9724497

Gene: SLC52A3

Linked Data

• ClinVar Variation Id: 262227
• ClinVar RCV Id: RCV000244346 ; RCV001660354
• dbSNP Id: rs3215628
• ExAC: 20:741653 CG / C
• gnomAD v2: 20-741653-CG-C
• gnomAD v3: 20-761009-CG-C
• gnomAD v4: 20-761009-CG-C
• COSMIC: COSN20116192 ; COSN20116193
• MyVariant Identifiers: chr20:g.741654del (hg19) ; chr20:g.761011del (hg38) ; chr20:g.761010del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.761013del , CM000682.2:g.761013del	GRCh38
NC_000020.10:g.741657del , CM000682.1:g.741657del	GRCh37
NC_000020.9:g.689657del	NCBI36
NG_027687.1:g.12575del
NG_027687.2:g.19976del

Transcript Alleles

HGVS	Amino-acid change
ENST00000381944.5:c.*640del	ENSP00000371370.3:n.*640del
ENST00000473664.2:c.920del	ENSP00000502741.1:p.Pro307ArgfsTer28
ENST00000488495.3:c.*16del	ENSP00000494009.1:n.*16del
ENST00000645534.1:c.*16del MANE Select	ENSP00000494193.1:n.*16del
ENST00000217254.11:c.*16del	ENSP00000217254.7:n.*16del
ENST00000381944.4:c.*640del	ENSP00000371370.3:n.*640del
ENST00000632431.1:c.*16del	ENSP00000488723.1:n.*16del
NM_033409.3:c.*16del	NP_212134.3:n.*16del
XM_005260655.3:c.*16del	XP_005260712.1:n.*16del
XM_011529148.1:c.*16del	XP_011527450.1:n.*16del
XM_005260655.4:c.*16del	XP_005260712.1:n.*16del
XM_024451821.1:c.*16del	XP_024307589.1:n.*16del
NM_033409.4:c.*16del MANE Select	NP_212134.3:n.*16del
NM_001370085.1:c.*16del	NP_001357014.1:n.*16del
NM_001370086.1:c.*16del	NP_001357015.1:n.*16del