Canonical Allele Identifier: CA9724788

Gene: SLC52A3

Linked Data

• ClinVar Variation Id: 476610
• ClinVar RCV Id: RCV000557473 ; RCV000825236 ; RCV001540821 ; RCV002377169
• dbSNP Id: rs142157418
• ExAC: 20:746024 C / T
• gnomAD v2: 20-746024-C-T
• gnomAD v3: 20-765380-C-T
• gnomAD v4: 20-765380-C-T
• MyVariant Identifiers: chr20:g.746024C>T (hg19) ; chr20:g.765380C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.765380C>T , CM000682.2:g.765380C>T	GRCh38
NC_000020.10:g.746024C>T , CM000682.1:g.746024C>T	GRCh37
NC_000020.9:g.694024C>T	NCBI36
NG_027687.1:g.8205G>A
NG_027687.2:g.15606G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381944.5:c.395G>A	ENSP00000371370.3:p.Arg132Gln
ENST00000473664.2:c.395G>A	ENSP00000502741.1:p.Arg132Gln
ENST00000488495.3:c.395G>A	ENSP00000494009.1:p.Arg132Gln
ENST00000645534.1:c.395G>A MANE Select	ENSP00000494193.1:p.Arg132Gln
ENST00000675066.1:c.395G>A	ENSP00000501902.1:p.Arg132Gln
ENST00000676154.1:c.395G>A	ENSP00000501807.1:p.Arg132Gln
ENST00000217254.11:c.395G>A	ENSP00000217254.7:p.Arg132Gln
ENST00000381944.4:c.395G>A	ENSP00000371370.3:p.Arg132Gln
ENST00000473664.1:n.446G>A
ENST00000632431.1:c.395G>A	ENSP00000488723.1:p.Arg132Gln
NM_033409.3:c.395G>A	NP_212134.3:p.Arg132Gln
XM_005260655.3:c.395G>A	XP_005260712.1:p.Arg132Gln
XM_011529148.1:c.395G>A	XP_011527450.1:p.Arg132Gln
XM_005260655.4:c.395G>A	XP_005260712.1:p.Arg132Gln
XM_024451821.1:c.395G>A	XP_024307589.1:p.Arg132Gln
NM_033409.4:c.395G>A MANE Select	NP_212134.3:p.Arg132Gln
NM_001370085.1:c.395G>A	NP_001357014.1:p.Arg132Gln
NM_001370086.1:c.395G>A	NP_001357015.1:p.Arg132Gln