Canonical Allele Identifier: CA407962782
Gene: SLC52A3 HGNC NCBI

Linked Data

gnomAD v4: 20-763630-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.763630G>A , CM000682.2:g.763630G>A GRCh38
NC_000020.10:g.744274G>A , CM000682.1:g.744274G>A GRCh37
NC_000020.9:g.692274G>A NCBI36
NG_027687.1:g.9955C>T
NG_027687.2:g.17356C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000381944.5:c.941C>T ENSP00000371370.3:p.Thr314Ile
ENST00000473664.2:c.567+1578C>T ENSP00000502741.1:n.567+1578C>T
ENST00000488495.3:c.941C>T ENSP00000494009.1:p.Thr314Ile
ENST00000645534.1:c.941C>T MANE Select ENSP00000494193.1:p.Thr314Ile
ENST00000675066.1:c.941C>T ENSP00000501902.1:p.Thr314Ile
ENST00000217254.11:c.941C>T ENSP00000217254.7:p.Thr314Ile
ENST00000381944.4:c.941C>T ENSP00000371370.3:p.Thr314Ile
ENST00000473664.1:n.618+1578C>T
ENST00000632431.1:c.941C>T ENSP00000488723.1:p.Thr314Ile
NM_033409.3:c.941C>T NP_212134.3:p.Thr314Ile
XM_005260655.3:c.941C>T XP_005260712.1:p.Thr314Ile
XM_011529148.1:c.941C>T XP_011527450.1:p.Thr314Ile
XM_005260655.4:c.941C>T XP_005260712.1:p.Thr314Ile
XM_024451821.1:c.941C>T XP_024307589.1:p.Thr314Ile
NM_033409.4:c.941C>T MANE Select NP_212134.3:p.Thr314Ile
NM_001370085.1:c.941C>T NP_001357014.1:p.Thr314Ile
NM_001370086.1:c.941C>T NP_001357015.1:p.Thr314Ile