Canonical Allele Identifier: CA634326123

Gene: SLC52A3

Linked Data

• dbSNP Id: rs1417547739
• gnomAD v2: 20-741541-A-C
• gnomAD v3: 20-760897-A-C
• gnomAD v4: 20-760897-A-C
• MyVariant Identifiers: chr20:g.741541A>C (hg19) ; chr20:g.760897A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.760897A>C , CM000682.2:g.760897A>C	GRCh38
NC_000020.10:g.741541A>C , CM000682.1:g.741541A>C	GRCh37
NC_000020.9:g.689541A>C	NCBI36
NG_027687.1:g.12688T>G
NG_027687.2:g.20089T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381944.5:c.*753T>G	ENSP00000371370.3:n.*753T>G
ENST00000473664.2:c.*22T>G	ENSP00000502741.1:n.*22T>G
ENST00000488495.3:c.*129T>G	ENSP00000494009.1:n.*129T>G
ENST00000645534.1:c.*129T>G MANE Select	ENSP00000494193.1:n.*129T>G
ENST00000217254.11:c.*129T>G	ENSP00000217254.7:n.*129T>G
ENST00000381944.4:c.*753T>G	ENSP00000371370.3:n.*753T>G
ENST00000632431.1:c.*129T>G	ENSP00000488723.1:n.*129T>G
NM_033409.3:c.*129T>G	NP_212134.3:n.*129T>G
XM_005260655.3:c.*129T>G	XP_005260712.1:n.*129T>G
XM_011529148.1:c.*129T>G	XP_011527450.1:n.*129T>G
XM_005260655.4:c.*129T>G	XP_005260712.1:n.*129T>G
XM_024451821.1:c.*129T>G	XP_024307589.1:n.*129T>G
NM_033409.4:c.*129T>G MANE Select	NP_212134.3:n.*129T>G
NM_001370085.1:c.*129T>G	NP_001357014.1:n.*129T>G
NM_001370086.1:c.*129T>G	NP_001357015.1:n.*129T>G