Canonical Allele Identifier: CA407962580

Gene: SLC52A3

Linked Data

• dbSNP Id: rs1193292637
• gnomAD v2: 20-744176-G-A
• gnomAD v4: 20-763532-G-A
• MyVariant Identifiers: chr20:g.744176G>A (hg19) ; chr20:g.763532G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.763532G>A , CM000682.2:g.763532G>A	GRCh38
NC_000020.10:g.744176G>A , CM000682.1:g.744176G>A	GRCh37
NC_000020.9:g.692176G>A	NCBI36
NG_027687.1:g.10053C>T
NG_027687.2:g.17454C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381944.5:c.1039C>T	ENSP00000371370.3:p.Leu347Phe
ENST00000473664.2:c.567+1676C>T	ENSP00000502741.1:n.567+1676C>T
ENST00000488495.3:c.1039C>T	ENSP00000494009.1:p.Leu347Phe
ENST00000645534.1:c.1039C>T MANE Select	ENSP00000494193.1:p.Leu347Phe
ENST00000675066.1:c.1039C>T	ENSP00000501902.1:p.Leu347Phe
ENST00000217254.11:c.1039C>T	ENSP00000217254.7:p.Leu347Phe
ENST00000381944.4:c.1039C>T	ENSP00000371370.3:p.Leu347Phe
ENST00000473664.1:n.618+1676C>T
ENST00000632431.1:c.1039C>T	ENSP00000488723.1:p.Leu347Phe
NM_033409.3:c.1039C>T	NP_212134.3:p.Leu347Phe
XM_005260655.3:c.1039C>T	XP_005260712.1:p.Leu347Phe
XM_011529148.1:c.1039C>T	XP_011527450.1:p.Leu347Phe
XM_005260655.4:c.1039C>T	XP_005260712.1:p.Leu347Phe
XM_024451821.1:c.1039C>T	XP_024307589.1:p.Leu347Phe
NM_033409.4:c.1039C>T MANE Select	NP_212134.3:p.Leu347Phe
NM_001370085.1:c.1039C>T	NP_001357014.1:p.Leu347Phe
NM_001370086.1:c.1039C>T	NP_001357015.1:p.Leu347Phe