Canonical Allele Identifier: CA407962325

Gene: SLC52A3

Linked Data

• ClinVar Variation Id: 521339
• ClinVar RCV Id: RCV000622896 ; RCV001868146
• dbSNP Id: rs1555783543
• COSMIC: COSM6019260 ; COSM6019261
• MyVariant Identifiers: chr20:g.742386A>G (hg19) ; chr20:g.761742A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.761742A>G , CM000682.2:g.761742A>G	GRCh38
NC_000020.10:g.742386A>G , CM000682.1:g.742386A>G	GRCh37
NC_000020.9:g.690386A>G	NCBI36
NG_027687.1:g.11843T>C
NG_027687.2:g.19244T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381944.5:c.1156T>C	ENSP00000371370.3:p.Cys386Arg
ENST00000473664.2:c.650T>C	ENSP00000502741.1:p.Leu217Pro
ENST00000488495.3:c.1156T>C	ENSP00000494009.1:p.Cys386Arg
ENST00000645534.1:c.1156T>C MANE Select	ENSP00000494193.1:p.Cys386Arg
ENST00000217254.11:c.1156T>C	ENSP00000217254.7:p.Cys386Arg
ENST00000381944.4:c.1156T>C	ENSP00000371370.3:p.Cys386Arg
ENST00000473664.1:n.701T>C
ENST00000632431.1:c.1156T>C	ENSP00000488723.1:p.Cys386Arg
NM_033409.3:c.1156T>C	NP_212134.3:p.Cys386Arg
XM_005260655.3:c.1156T>C	XP_005260712.1:p.Cys386Arg
XM_011529148.1:c.1156T>C	XP_011527450.1:p.Cys386Arg
XM_005260655.4:c.1156T>C	XP_005260712.1:p.Cys386Arg
XM_024451821.1:c.1156T>C	XP_024307589.1:p.Cys386Arg
NM_033409.4:c.1156T>C MANE Select	NP_212134.3:p.Cys386Arg
NM_001370085.1:c.1156T>C	NP_001357014.1:p.Cys386Arg
NM_001370086.1:c.1156T>C	NP_001357015.1:p.Cys386Arg