Canonical Allele Identifier: CA634326124

Gene: SLC52A3

Linked Data

• dbSNP Id: rs1172082058
• gnomAD v2: 20-741566-A-G
• gnomAD v3: 20-760922-A-G
• gnomAD v4: 20-760922-A-G
• MyVariant Identifiers: chr20:g.741566A>G (hg19) ; chr20:g.760922A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.760922A>G , CM000682.2:g.760922A>G	GRCh38
NC_000020.10:g.741566A>G , CM000682.1:g.741566A>G	GRCh37
NC_000020.9:g.689566A>G	NCBI36
NG_027687.1:g.12663T>C
NG_027687.2:g.20064T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381944.5:c.*728T>C	ENSP00000371370.3:n.*728T>C
ENST00000473664.2:c.1008T>C	ENSP00000502741.1:p.Asn336=
ENST00000488495.3:c.*104T>C	ENSP00000494009.1:n.*104T>C
ENST00000645534.1:c.*104T>C MANE Select	ENSP00000494193.1:n.*104T>C
ENST00000217254.11:c.*104T>C	ENSP00000217254.7:n.*104T>C
ENST00000381944.4:c.*728T>C	ENSP00000371370.3:n.*728T>C
ENST00000632431.1:c.*104T>C	ENSP00000488723.1:n.*104T>C
NM_033409.3:c.*104T>C	NP_212134.3:n.*104T>C
XM_005260655.3:c.*104T>C	XP_005260712.1:n.*104T>C
XM_011529148.1:c.*104T>C	XP_011527450.1:n.*104T>C
XM_005260655.4:c.*104T>C	XP_005260712.1:n.*104T>C
XM_024451821.1:c.*104T>C	XP_024307589.1:n.*104T>C
NM_033409.4:c.*104T>C MANE Select	NP_212134.3:n.*104T>C
NM_001370085.1:c.*104T>C	NP_001357014.1:n.*104T>C
NM_001370086.1:c.*104T>C	NP_001357015.1:n.*104T>C