Canonical Allele Identifier: CA2651548051
Gene: SLC52A3 HGNC NCBI

Linked Data

gnomAD v4: 20-765934-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.765934T>G , CM000682.2:g.765934T>G GRCh38
NC_000020.10:g.746578T>G , CM000682.1:g.746578T>G GRCh37
NC_000020.9:g.694578T>G NCBI36
NG_027687.1:g.7651A>C
NG_027687.2:g.15052A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000381944.5:c.-51-109A>C ENSP00000371370.3:n.-51-109A>C
ENST00000488495.3:c.-160A>C ENSP00000494009.1:n.-160A>C
ENST00000645534.1:c.-51-109A>C MANE Select ENSP00000494193.1:n.-51-109A>C
ENST00000674666.1:c.-160A>C ENSP00000502783.1:n.-160A>C
ENST00000675066.1:c.-51-109A>C ENSP00000501902.1:n.-51-109A>C
ENST00000676154.1:c.-51-109A>C ENSP00000501807.1:n.-51-109A>C
ENST00000217254.11:c.-51-109A>C ENSP00000217254.7:n.-51-109A>C
ENST00000381944.4:c.-51-109A>C ENSP00000371370.3:n.-51-109A>C
ENST00000632431.1:c.-51-109A>C ENSP00000488723.1:n.-51-109A>C
NM_033409.3:c.-51-109A>C NP_212134.3:n.-51-109A>C
XM_005260655.3:c.-51-109A>C XP_005260712.1:n.-51-109A>C
XM_011529148.1:c.-160A>C XP_011527450.1:n.-160A>C
XM_005260655.4:c.-51-109A>C XP_005260712.1:n.-51-109A>C
XM_024451821.1:c.-51-109A>C XP_024307589.1:n.-51-109A>C
NM_033409.4:c.-51-109A>C MANE Select NP_212134.3:n.-51-109A>C
NM_001370085.1:c.-51-109A>C NP_001357014.1:n.-51-109A>C
NM_001370086.1:c.-160A>C NP_001357015.1:n.-160A>C