Canonical Allele Identifier: CA634092996

Gene: SLC52A3

Linked Data

• dbSNP Id: rs1193001341
• gnomAD v2: 20-741500-C-T
• gnomAD v3: 20-760856-C-T
• gnomAD v4: 20-760856-C-T
• MyVariant Identifiers: chr20:g.741500C>T (hg19) ; chr20:g.760856C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.760856C>T , CM000682.2:g.760856C>T	GRCh38
NC_000020.10:g.741500C>T , CM000682.1:g.741500C>T	GRCh37
NC_000020.9:g.689500C>T	NCBI36
NG_027687.1:g.12729G>A
NG_027687.2:g.20130G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381944.5:c.*794G>A	ENSP00000371370.3:n.*794G>A
ENST00000473664.2:c.*63G>A	ENSP00000502741.1:n.*63G>A
ENST00000488495.3:c.*170G>A	ENSP00000494009.1:n.*170G>A
ENST00000645534.1:c.*170G>A MANE Select	ENSP00000494193.1:n.*170G>A
ENST00000217254.11:c.*170G>A	ENSP00000217254.7:n.*170G>A
ENST00000381944.4:c.*794G>A	ENSP00000371370.3:n.*794G>A
ENST00000632431.1:c.*170G>A	ENSP00000488723.1:n.*170G>A
NM_033409.3:c.*170G>A	NP_212134.3:n.*170G>A
XM_005260655.3:c.*170G>A	XP_005260712.1:n.*170G>A
XM_011529148.1:c.*170G>A	XP_011527450.1:n.*170G>A
XM_005260655.4:c.*170G>A	XP_005260712.1:n.*170G>A
XM_024451821.1:c.*170G>A	XP_024307589.1:n.*170G>A
NM_033409.4:c.*170G>A MANE Select	NP_212134.3:n.*170G>A
NM_001370085.1:c.*170G>A	NP_001357014.1:n.*170G>A
NM_001370086.1:c.*170G>A	NP_001357015.1:n.*170G>A