Canonical Allele Identifier: CA346993

Gene: SLC52A3

Linked Data

• ClinVar Variation Id: 210025
• ClinVar RCV Id: RCV000024020 ; RCV000191970
• dbSNP Id: rs754753126
• MyVariant Identifiers: chr20:g.741884T>G (hg19) ; chr20:g.761240T>G (hg38)
• PubMed: PMID:21110228 ; PMID:26072523

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.761240T>G , CM000682.2:g.761240T>G	GRCh38
NC_000020.10:g.741884T>G , CM000682.1:g.741884T>G	GRCh37
NC_000020.9:g.689884T>G	NCBI36
NG_027687.1:g.12345A>C
NG_027687.2:g.19746A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381944.5:c.*410A>C	ENSP00000371370.3:n.*410A>C
ENST00000473664.2:c.692-2A>C	ENSP00000502741.1:n.692-2A>C
ENST00000488495.3:c.1198-2A>C	ENSP00000494009.1:n.1198-2A>C
ENST00000645534.1:c.1198-2A>C MANE Select	ENSP00000494193.1:n.1198-2A>C
ENST00000217254.11:c.1198-2A>C	ENSP00000217254.7:n.1198-2A>C
ENST00000381944.4:c.*410A>C	ENSP00000371370.3:n.*410A>C
ENST00000473664.1:n.743-2A>C
ENST00000632431.1:c.1198-2A>C	ENSP00000488723.1:n.1198-2A>C
NM_033409.3:c.1198-2A>C	NP_212134.3:n.1198-2A>C
XM_005260655.3:c.1198-2A>C	XP_005260712.1:n.1198-2A>C
XM_011529148.1:c.1198-2A>C	XP_011527450.1:n.1198-2A>C
XM_005260655.4:c.1198-2A>C	XP_005260712.1:n.1198-2A>C
XM_024451821.1:c.1198-2A>C	XP_024307589.1:n.1198-2A>C
NM_033409.4:c.1198-2A>C MANE Select	NP_212134.3:n.1198-2A>C
NM_001370085.1:c.1198-2A>C	NP_001357014.1:n.1198-2A>C
NM_001370086.1:c.1198-2A>C	NP_001357015.1:n.1198-2A>C