Canonical Allele Identifier: CA310683804
Gene: SLC52A3 HGNC NCBI
MyVariant.info:
GRCh38 chr20:g.773867C>T
GRCh37 chr20:g.754511C>T
gnomAD v2:
20:754511 C / T
gnomAD v3:
20:773867 C / T
gnomAD v4:
chr20-773867-C-T
Joint Max Group AF 0.40376423 (EAS)
Genomes Max Group AF 0.40376423 (EAS)
dbSNP:
13042395
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.773867C>T , CM000682.2:g.773867C>T GRCh38
NC_000020.10:g.754511C>T , CM000682.1:g.754511C>T GRCh37
NC_000020.9:g.702511C>T NCBI36
NG_027687.2:g.7119G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000674666.1:c.-747+2088G>A ENSP00000502783.1:n.-747+2088G>A
ENST00000675466.1:n.29+2088G>A
ENST00000676154.1:c.-52+2088G>A ENSP00000501807.1:n.-52+2088G>A
ENST00000217254.11:c.-238+2088G>A ENSP00000217254.7:n.-238+2088G>A
XM_005260655.3:c.-238+2088G>A XP_005260712.1:n.-238+2088G>A
XM_011529148.1:c.-747+2088G>A XP_011527450.1:n.-747+2088G>A
XM_005260655.4:c.-238+2088G>A XP_005260712.1:n.-238+2088G>A
XM_024451821.1:c.-238+1024G>A XP_024307589.1:n.-238+1024G>A
NM_001370085.1:c.-238+2088G>A NP_001357014.1:n.-238+2088G>A
NM_001370086.1:c.-747+2088G>A NP_001357015.1:n.-747+2088G>A
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