Canonical Allele Identifier: CA2577315050

Gene: SLC52A3

Linked Data

• gnomAD v4: 20-760977-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.760979del , CM000682.2:g.760979del	GRCh38
NC_000020.10:g.741623del , CM000682.1:g.741623del	GRCh37
NC_000020.9:g.689623del	NCBI36
NG_027687.1:g.12607del
NG_027687.2:g.20008del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381944.5:c.*672del	ENSP00000371370.3:n.*672del
ENST00000473664.2:c.952del	ENSP00000502741.1:p.Gln318ArgfsTer17
ENST00000488495.3:c.*48del	ENSP00000494009.1:n.*48del
ENST00000645534.1:c.*48del MANE Select	ENSP00000494193.1:n.*48del
ENST00000217254.11:c.*48del	ENSP00000217254.7:n.*48del
ENST00000381944.4:c.*672del	ENSP00000371370.3:n.*672del
ENST00000632431.1:c.*48del	ENSP00000488723.1:n.*48del
NM_033409.3:c.*48del	NP_212134.3:n.*48del
XM_005260655.3:c.*48del	XP_005260712.1:n.*48del
XM_011529148.1:c.*48del	XP_011527450.1:n.*48del
XM_005260655.4:c.*48del	XP_005260712.1:n.*48del
XM_024451821.1:c.*48del	XP_024307589.1:n.*48del
NM_033409.4:c.*48del MANE Select	NP_212134.3:n.*48del
NM_001370085.1:c.*48del	NP_001357014.1:n.*48del
NM_001370086.1:c.*48del	NP_001357015.1:n.*48del