Canonical Allele Identifier: CA310673737

Gene: SLC52A3

Linked Data

• ClinVar Variation Id: 1204306
• ClinVar RCV Id: RCV001570624
• dbSNP Id: rs73069709
• gnomAD v2: 20-741386-C-T
• gnomAD v3: 20-760742-C-T
• gnomAD v4: 20-760742-C-T
• MyVariant Identifiers: chr20:g.741386C>T (hg19) ; chr20:g.760742C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.760742C>T , CM000682.2:g.760742C>T	GRCh38
NC_000020.10:g.741386C>T , CM000682.1:g.741386C>T	GRCh37
NC_000020.9:g.689386C>T	NCBI36
NG_027687.1:g.12843G>A
NG_027687.2:g.20244G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381944.5:c.*908G>A	ENSP00000371370.3:n.*908G>A
ENST00000473664.2:c.*177G>A	ENSP00000502741.1:n.*177G>A
ENST00000488495.3:c.*284G>A	ENSP00000494009.1:n.*284G>A
ENST00000645534.1:c.*284G>A MANE Select	ENSP00000494193.1:n.*284G>A
ENST00000217254.11:c.*284G>A	ENSP00000217254.7:n.*284G>A
ENST00000381944.4:c.*908G>A	ENSP00000371370.3:n.*908G>A
ENST00000632431.1:c.*284G>A	ENSP00000488723.1:n.*284G>A
NM_033409.3:c.*284G>A	NP_212134.3:n.*284G>A
XM_005260655.3:c.*284G>A	XP_005260712.1:n.*284G>A
XM_011529148.1:c.*284G>A	XP_011527450.1:n.*284G>A
XM_005260655.4:c.*284G>A	XP_005260712.1:n.*284G>A
XM_024451821.1:c.*284G>A	XP_024307589.1:n.*284G>A
NM_033409.4:c.*284G>A MANE Select	NP_212134.3:n.*284G>A
NM_001370085.1:c.*284G>A	NP_001357014.1:n.*284G>A
NM_001370086.1:c.*284G>A	NP_001357015.1:n.*284G>A