Canonical Allele Identifier: CA9724492

Gene: SLC52A3

Linked Data

• dbSNP Id: rs769434441
• ExAC: 20:741625 C / T
• gnomAD v2: 20-741625-C-T
• gnomAD v4: 20-760981-C-T
• MyVariant Identifiers: chr20:g.741625C>T (hg19) ; chr20:g.760981C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.760981C>T , CM000682.2:g.760981C>T	GRCh38
NC_000020.10:g.741625C>T , CM000682.1:g.741625C>T	GRCh37
NC_000020.9:g.689625C>T	NCBI36
NG_027687.1:g.12604G>A
NG_027687.2:g.20005G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381944.5:c.*669G>A	ENSP00000371370.3:n.*669G>A
ENST00000473664.2:c.949G>A	ENSP00000502741.1:p.Val317Ile
ENST00000488495.3:c.*45G>A	ENSP00000494009.1:n.*45G>A
ENST00000645534.1:c.*45G>A MANE Select	ENSP00000494193.1:n.*45G>A
ENST00000217254.11:c.*45G>A	ENSP00000217254.7:n.*45G>A
ENST00000381944.4:c.*669G>A	ENSP00000371370.3:n.*669G>A
ENST00000632431.1:c.*45G>A	ENSP00000488723.1:n.*45G>A
NM_033409.3:c.*45G>A	NP_212134.3:n.*45G>A
XM_005260655.3:c.*45G>A	XP_005260712.1:n.*45G>A
XM_011529148.1:c.*45G>A	XP_011527450.1:n.*45G>A
XM_005260655.4:c.*45G>A	XP_005260712.1:n.*45G>A
XM_024451821.1:c.*45G>A	XP_024307589.1:n.*45G>A
NM_033409.4:c.*45G>A MANE Select	NP_212134.3:n.*45G>A
NM_001370085.1:c.*45G>A	NP_001357014.1:n.*45G>A
NM_001370086.1:c.*45G>A	NP_001357015.1:n.*45G>A