Canonical Allele Identifier: CA407961853

Gene: SLC52A3

Linked Data

• ClinVar Variation Id: 1382838
• ClinVar RCV Id: RCV001890582
• dbSNP Id: rs1986450964
• gnomAD v4: 20-761100-G-A
• MyVariant Identifiers: chr20:g.741744G>A (hg19) ; chr20:g.761100G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.761100G>A , CM000682.2:g.761100G>A	GRCh38
NC_000020.10:g.741744G>A , CM000682.1:g.741744G>A	GRCh37
NC_000020.9:g.689744G>A	NCBI36
NG_027687.1:g.12485C>T
NG_027687.2:g.19886C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000381944.5:c.*550C>T	ENSP00000371370.3:n.*550C>T
ENST00000473664.2:c.830C>T	ENSP00000502741.1:p.Ala277Val
ENST00000488495.3:c.1336C>T	ENSP00000494009.1:p.Leu446Phe
ENST00000645534.1:c.1336C>T MANE Select	ENSP00000494193.1:p.Leu446Phe
ENST00000217254.11:c.1336C>T	ENSP00000217254.7:p.Leu446Phe
ENST00000381944.4:c.*550C>T	ENSP00000371370.3:n.*550C>T
ENST00000473664.1:n.881C>T
ENST00000632431.1:c.1336C>T	ENSP00000488723.1:p.Leu446Phe
NM_033409.3:c.1336C>T	NP_212134.3:p.Leu446Phe
XM_005260655.3:c.1336C>T	XP_005260712.1:p.Leu446Phe
XM_011529148.1:c.1336C>T	XP_011527450.1:p.Leu446Phe
XM_005260655.4:c.1336C>T	XP_005260712.1:p.Leu446Phe
XM_024451821.1:c.1336C>T	XP_024307589.1:p.Leu446Phe
NM_033409.4:c.1336C>T MANE Select	NP_212134.3:p.Leu446Phe
NM_001370085.1:c.1336C>T	NP_001357014.1:p.Leu446Phe
NM_001370086.1:c.1336C>T	NP_001357015.1:p.Leu446Phe