Canonical Allele Identifier: CA2345347986
Gene: SLC52A3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.760950G= , CM000682.2:g.760950G= GRCh38
NC_000020.10:g.741594G= , CM000682.1:g.741594G= GRCh37
NC_000020.9:g.689594G= NCBI36
NG_027687.1:g.12635C=
NG_027687.2:g.20036C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000381944.5:c.*700C= ENSP00000371370.3:n.*700C=
ENST00000473664.2:c.980C= ENSP00000502741.1:p.Ala327=
ENST00000488495.3:c.*76C= ENSP00000494009.1:n.*76C=
ENST00000645534.1:c.*76C= MANE Select ENSP00000494193.1:n.*76C=
ENST00000217254.11:c.*76C= ENSP00000217254.7:n.*76C=
ENST00000381944.4:c.*700C= ENSP00000371370.3:n.*700C=
ENST00000632431.1:c.*76C= ENSP00000488723.1:n.*76C=
NM_033409.3:c.*76C= NP_212134.3:n.*76C=
XM_005260655.3:c.*76C= XP_005260712.1:n.*76C=
XM_011529148.1:c.*76C= XP_011527450.1:n.*76C=
XM_005260655.4:c.*76C= XP_005260712.1:n.*76C=
XM_024451821.1:c.*76C= XP_024307589.1:n.*76C=
NM_033409.4:c.*76C= MANE Select NP_212134.3:n.*76C=
NM_001370085.1:c.*76C= NP_001357014.1:n.*76C=
NM_001370086.1:c.*76C= NP_001357015.1:n.*76C=