Canonical Allele Identifier: CA407961869

Gene: SLC52A3

Linked Data

• gnomAD v4: 20-761109-C-G
• MyVariant Identifiers: chr20:g.741753C>G (hg19) ; chr20:g.761109C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.761109C>G , CM000682.2:g.761109C>G	GRCh38
NC_000020.10:g.741753C>G , CM000682.1:g.741753C>G	GRCh37
NC_000020.9:g.689753C>G	NCBI36
NG_027687.1:g.12476G>C
NG_027687.2:g.19877G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000381944.5:c.*541G>C	ENSP00000371370.3:n.*541G>C
ENST00000473664.2:c.821G>C	ENSP00000502741.1:p.Arg274Pro
ENST00000488495.3:c.1327G>C	ENSP00000494009.1:p.Gly443Arg
ENST00000645534.1:c.1327G>C MANE Select	ENSP00000494193.1:p.Gly443Arg
ENST00000217254.11:c.1327G>C	ENSP00000217254.7:p.Gly443Arg
ENST00000381944.4:c.*541G>C	ENSP00000371370.3:n.*541G>C
ENST00000473664.1:n.872G>C
ENST00000632431.1:c.1327G>C	ENSP00000488723.1:p.Gly443Arg
NM_033409.3:c.1327G>C	NP_212134.3:p.Gly443Arg
XM_005260655.3:c.1327G>C	XP_005260712.1:p.Gly443Arg
XM_011529148.1:c.1327G>C	XP_011527450.1:p.Gly443Arg
XM_005260655.4:c.1327G>C	XP_005260712.1:p.Gly443Arg
XM_024451821.1:c.1327G>C	XP_024307589.1:p.Gly443Arg
NM_033409.4:c.1327G>C MANE Select	NP_212134.3:p.Gly443Arg
NM_001370085.1:c.1327G>C	NP_001357014.1:p.Gly443Arg
NM_001370086.1:c.1327G>C	NP_001357015.1:p.Gly443Arg