Canonical Allele Identifier: CA9724678

Gene: SLC52A3

Linked Data

• ClinVar Variation Id: 873320
• ClinVar RCV Id: RCV001095540 ; RCV001203115 ; RCV003483781 ; RCV002411628
• dbSNP Id: rs145498634
• ExAC: 20:744413 G / A
• gnomAD v2: 20-744413-G-A
• gnomAD v3: 20-763769-G-A
• gnomAD v4: 20-763769-G-A
• MyVariant Identifiers: chr20:g.744413G>A (hg19) ; chr20:g.763769G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.763769G>A , CM000682.2:g.763769G>A	GRCh38
NC_000020.10:g.744413G>A , CM000682.1:g.744413G>A	GRCh37
NC_000020.9:g.692413G>A	NCBI36
NG_027687.1:g.9816C>T
NG_027687.2:g.17217C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381944.5:c.802C>T	ENSP00000371370.3:p.Arg268Trp
ENST00000473664.2:c.567+1439C>T	ENSP00000502741.1:n.567+1439C>T
ENST00000488495.3:c.802C>T	ENSP00000494009.1:p.Arg268Trp
ENST00000645534.1:c.802C>T MANE Select	ENSP00000494193.1:p.Arg268Trp
ENST00000675066.1:c.802C>T	ENSP00000501902.1:p.Arg268Trp
ENST00000217254.11:c.802C>T	ENSP00000217254.7:p.Arg268Trp
ENST00000381944.4:c.802C>T	ENSP00000371370.3:p.Arg268Trp
ENST00000473664.1:n.618+1439C>T
ENST00000632431.1:c.802C>T	ENSP00000488723.1:p.Arg268Trp
NM_033409.3:c.802C>T	NP_212134.3:p.Arg268Trp
XM_005260655.3:c.802C>T	XP_005260712.1:p.Arg268Trp
XM_011529148.1:c.802C>T	XP_011527450.1:p.Arg268Trp
XM_005260655.4:c.802C>T	XP_005260712.1:p.Arg268Trp
XM_024451821.1:c.802C>T	XP_024307589.1:p.Arg268Trp
NM_033409.4:c.802C>T MANE Select	NP_212134.3:p.Arg268Trp
NM_001370085.1:c.802C>T	NP_001357014.1:p.Arg268Trp
NM_001370086.1:c.802C>T	NP_001357015.1:p.Arg268Trp