Canonical Allele Identifier: CA2577315102

Gene: SLC52A3

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.763829dup , CM000682.2:g.763829dup	GRCh38
NC_000020.10:g.744473dup , CM000682.1:g.744473dup	GRCh37
NC_000020.9:g.692473dup	NCBI36
NG_027687.1:g.9756dup
NG_027687.2:g.17157dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381944.5:c.742dup	ENSP00000371370.3:p.Trp248LeufsTer11
ENST00000473664.2:c.567+1379dup	ENSP00000502741.1:n.567+1379dup
ENST00000488495.3:c.742dup	ENSP00000494009.1:p.Trp248LeufsTer11
ENST00000645534.1:c.742dup MANE Select	ENSP00000494193.1:p.Trp248LeufsTer11
ENST00000675066.1:c.742dup	ENSP00000501902.1:p.Trp248LeufsTer11
ENST00000217254.11:c.742dup	ENSP00000217254.7:p.Trp248LeufsTer11
ENST00000381944.4:c.742dup	ENSP00000371370.3:p.Trp248LeufsTer11
ENST00000473664.1:n.618+1379dup
ENST00000632431.1:c.742dup	ENSP00000488723.1:p.Trp248LeufsTer11
NM_033409.3:c.742dup	NP_212134.3:p.Trp248LeufsTer11
XM_005260655.3:c.742dup	XP_005260712.1:p.Trp248LeufsTer11
XM_011529148.1:c.742dup	XP_011527450.1:p.Trp248LeufsTer11
XM_005260655.4:c.742dup	XP_005260712.1:p.Trp248LeufsTer11
XM_024451821.1:c.742dup	XP_024307589.1:p.Trp248LeufsTer11
NM_033409.4:c.742dup MANE Select	NP_212134.3:p.Trp248LeufsTer11
NM_001370085.1:c.742dup	NP_001357014.1:p.Trp248LeufsTer11
NM_001370086.1:c.742dup	NP_001357015.1:p.Trp248LeufsTer11