Canonical Allele Identifier: CA346967

Gene: SLC52A3

Linked Data

• ClinVar Variation Id: 210011
• ClinVar RCV Id: RCV000191956
• dbSNP Id: rs797045190
• MyVariant Identifiers: chr20:g.746370A>G (hg19) ; chr20:g.765726A>G (hg38)
• PubMed: PMID:21110228 ; PMID:26072523

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.765726A>G , CM000682.2:g.765726A>G	GRCh38
NC_000020.10:g.746370A>G , CM000682.1:g.746370A>G	GRCh37
NC_000020.9:g.694370A>G	NCBI36
NG_027687.1:g.7859T>C
NG_027687.2:g.15260T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381944.5:c.49T>C	ENSP00000371370.3:p.Trp17Arg
ENST00000473664.2:c.49T>C	ENSP00000502741.1:p.Trp17Arg
ENST00000488495.3:c.49T>C	ENSP00000494009.1:p.Trp17Arg
ENST00000645534.1:c.49T>C MANE Select	ENSP00000494193.1:p.Trp17Arg
ENST00000674666.1:c.49T>C	ENSP00000502783.1:p.Trp17Arg
ENST00000675066.1:c.49T>C	ENSP00000501902.1:p.Trp17Arg
ENST00000676154.1:c.49T>C	ENSP00000501807.1:p.Trp17Arg
ENST00000217254.11:c.49T>C	ENSP00000217254.7:p.Trp17Arg
ENST00000381944.4:c.49T>C	ENSP00000371370.3:p.Trp17Arg
ENST00000473664.1:n.100T>C
ENST00000632431.1:c.49T>C	ENSP00000488723.1:p.Trp17Arg
NM_033409.3:c.49T>C	NP_212134.3:p.Trp17Arg
XM_005260655.3:c.49T>C	XP_005260712.1:p.Trp17Arg
XM_011529148.1:c.49T>C	XP_011527450.1:p.Trp17Arg
XM_005260655.4:c.49T>C	XP_005260712.1:p.Trp17Arg
XM_024451821.1:c.49T>C	XP_024307589.1:p.Trp17Arg
NM_033409.4:c.49T>C MANE Select	NP_212134.3:p.Trp17Arg
NM_001370085.1:c.49T>C	NP_001357014.1:p.Trp17Arg
NM_001370086.1:c.49T>C	NP_001357015.1:p.Trp17Arg