Canonical Allele Identifier: CA407961857

Gene: SLC52A3

Linked Data

• ClinVar Variation Id: 1383680
• ClinVar RCV Id: RCV001892785
• dbSNP Id: rs1431510759
• gnomAD v2: 20-741747-G-C
• gnomAD v3: 20-761103-G-C
• gnomAD v4: 20-761103-G-C
• MyVariant Identifiers: chr20:g.741747G>C (hg19) ; chr20:g.761103G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.761103G>C , CM000682.2:g.761103G>C	GRCh38
NC_000020.10:g.741747G>C , CM000682.1:g.741747G>C	GRCh37
NC_000020.9:g.689747G>C	NCBI36
NG_027687.1:g.12482C>G
NG_027687.2:g.19883C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000381944.5:c.*547C>G	ENSP00000371370.3:n.*547C>G
ENST00000473664.2:c.827C>G	ENSP00000502741.1:p.Ala276Gly
ENST00000488495.3:c.1333C>G	ENSP00000494009.1:p.Leu445Val
ENST00000645534.1:c.1333C>G MANE Select	ENSP00000494193.1:p.Leu445Val
ENST00000217254.11:c.1333C>G	ENSP00000217254.7:p.Leu445Val
ENST00000381944.4:c.*547C>G	ENSP00000371370.3:n.*547C>G
ENST00000473664.1:n.878C>G
ENST00000632431.1:c.1333C>G	ENSP00000488723.1:p.Leu445Val
NM_033409.3:c.1333C>G	NP_212134.3:p.Leu445Val
XM_005260655.3:c.1333C>G	XP_005260712.1:p.Leu445Val
XM_011529148.1:c.1333C>G	XP_011527450.1:p.Leu445Val
XM_005260655.4:c.1333C>G	XP_005260712.1:p.Leu445Val
XM_024451821.1:c.1333C>G	XP_024307589.1:p.Leu445Val
NM_033409.4:c.1333C>G MANE Select	NP_212134.3:p.Leu445Val
NM_001370085.1:c.1333C>G	NP_001357014.1:p.Leu445Val
NM_001370086.1:c.1333C>G	NP_001357015.1:p.Leu445Val