Canonical Allele Identifier: CA346979

Gene: SLC52A3

Linked Data

• ClinVar Variation Id: 210018
• ClinVar RCV Id: RCV000191963 ; RCV002247619 ; RCV002354538 ; RCV003313053
• dbSNP Id: rs778363575
• ExAC: 20:744576 G / C
• gnomAD v2: 20-744576-G-C
• gnomAD v3: 20-763932-G-C
• gnomAD v4: 20-763932-G-C
• MyVariant Identifiers: chr20:g.744576G>C (hg19) ; chr20:g.763932G>C (hg38)
• PubMed: PMID:20206331 ; PMID:26072523

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.763932G>C , CM000682.2:g.763932G>C	GRCh38
NC_000020.10:g.744576G>C , CM000682.1:g.744576G>C	GRCh37
NC_000020.9:g.692576G>C	NCBI36
NG_027687.1:g.9653C>G
NG_027687.2:g.17054C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381944.5:c.639C>G	ENSP00000371370.3:p.Tyr213Ter
ENST00000473664.2:c.567+1276C>G	ENSP00000502741.1:n.567+1276C>G
ENST00000488495.3:c.639C>G	ENSP00000494009.1:p.Tyr213Ter
ENST00000645534.1:c.639C>G MANE Select	ENSP00000494193.1:p.Tyr213Ter
ENST00000675066.1:c.639C>G	ENSP00000501902.1:p.Tyr213Ter
ENST00000676154.1:c.639C>G	ENSP00000501807.1:p.Tyr213Ter
ENST00000217254.11:c.639C>G	ENSP00000217254.7:p.Tyr213Ter
ENST00000381944.4:c.639C>G	ENSP00000371370.3:p.Tyr213Ter
ENST00000473664.1:n.618+1276C>G
ENST00000632431.1:c.639C>G	ENSP00000488723.1:p.Tyr213Ter
NM_033409.3:c.639C>G	NP_212134.3:p.Tyr213Ter
XM_005260655.3:c.639C>G	XP_005260712.1:p.Tyr213Ter
XM_011529148.1:c.639C>G	XP_011527450.1:p.Tyr213Ter
XM_005260655.4:c.639C>G	XP_005260712.1:p.Tyr213Ter
XM_024451821.1:c.639C>G	XP_024307589.1:p.Tyr213Ter
NM_033409.4:c.639C>G MANE Select	NP_212134.3:p.Tyr213Ter
NM_001370085.1:c.639C>G	NP_001357014.1:p.Tyr213Ter
NM_001370086.1:c.639C>G	NP_001357015.1:p.Tyr213Ter