Canonical Allele Identifier: CA2345349444
Community Standard Title: NM_033409.4(SLC52A3):c.670T= (p.Phe224=)
Gene: SLC52A3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.763901A= , CM000682.2:g.763901A= GRCh38
NC_000020.10:g.744545A= , CM000682.1:g.744545A= GRCh37
NC_000020.9:g.692545A= NCBI36
NG_027687.1:g.9684T=
NG_027687.2:g.17085T=

Transcript Alleles

HGVS Amino-acid Change
NM_033409.4:c.670T= MANE Select NP_212134.3:p.Phe224=
ENST00000645534.1:c.670T= MANE Select ENSP00000494193.1:p.Phe224=
NM_001370085.1:c.670T= NP_001357014.1:p.Phe224=
NM_001370086.1:c.670T= NP_001357015.1:p.Phe224=
NM_033409.3:c.670T= NP_212134.3:p.Phe224=
ENST00000217254.11:c.670T= ENSP00000217254.7:p.Phe224=
ENST00000381944.4:c.670T= ENSP00000371370.3:p.Phe224=
ENST00000381944.5:c.670T= ENSP00000371370.3:p.Phe224=
ENST00000473664.1:n.618+1307T=
ENST00000473664.2:c.567+1307T= ENSP00000502741.1:n.567+1307T=
ENST00000488495.3:c.670T= ENSP00000494009.1:p.Phe224=
ENST00000632431.1:c.670T= ENSP00000488723.1:p.Phe224=
ENST00000675066.1:c.670T= ENSP00000501902.1:p.Phe224=
ENST00000676154.1:c.670T= ENSP00000501807.1:p.Phe224=
XM_005260655.3:c.670T= XP_005260712.1:p.Phe224=
XM_005260655.4:c.670T= XP_005260712.1:p.Phe224=
XM_011529148.1:c.670T= XP_011527450.1:p.Phe224=
XM_024451821.1:c.670T= XP_024307589.1:p.Phe224=