Canonical Allele Identifier: CA2345349260
Gene: SLC52A3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.763497C= , CM000682.2:g.763497C= GRCh38
NC_000020.10:g.744141C= , CM000682.1:g.744141C= GRCh37
NC_000020.9:g.692141C= NCBI36
NG_027687.1:g.10088G=
NG_027687.2:g.17489G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000381944.5:c.1073+1G= ENSP00000371370.3:n.1073+1G=
ENST00000473664.2:c.568-1673G= ENSP00000502741.1:n.568-1673G=
ENST00000488495.3:c.1073+1G= ENSP00000494009.1:n.1073+1G=
ENST00000645534.1:c.1073+1G= MANE Select ENSP00000494193.1:n.1073+1G=
ENST00000675066.1:c.1074G= ENSP00000501902.1:p.Arg358=
ENST00000217254.11:c.1073+1G= ENSP00000217254.7:n.1073+1G=
ENST00000381944.4:c.1073+1G= ENSP00000371370.3:n.1073+1G=
ENST00000473664.1:n.619-1673G=
ENST00000632431.1:c.1073+1G= ENSP00000488723.1:n.1073+1G=
NM_033409.3:c.1073+1G= NP_212134.3:n.1073+1G=
XM_005260655.3:c.1073+1G= XP_005260712.1:n.1073+1G=
XM_011529148.1:c.1073+1G= XP_011527450.1:n.1073+1G=
XM_005260655.4:c.1073+1G= XP_005260712.1:n.1073+1G=
XM_024451821.1:c.1073+1G= XP_024307589.1:n.1073+1G=
NM_033409.4:c.1073+1G= MANE Select NP_212134.3:n.1073+1G=
NM_001370085.1:c.1073+1G= NP_001357014.1:n.1073+1G=
NM_001370086.1:c.1073+1G= NP_001357015.1:n.1073+1G=