Canonical Allele Identifier: CA903711530
Gene: ALG3 HGNC NCBI
EIF2B5 HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.184245375G>A
GRCh37 chr3:g.183963163G>A
gnomAD v3:
3:184245375 G / A
gnomAD v4:
chr3-184245375-G-A
Joint Max Group AF 7.9e-7 (NFE)
Exomes Max Group AF 8.4e-7 (NFE)
ClinVar RCV:
RCV003603560
ClinVar Variation:
2896991
dbSNP:
1210910724
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.184245375G>A , CM000665.2:g.184245375G>A GRCh38
NC_000003.11:g.183963163G>A , CM000665.1:g.183963163G>A GRCh37
NC_000003.10:g.185445857G>A NCBI36
NG_008924.2:g.9138C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000397676.8:c.445-17C>T (ALG3) MANE Select ENSP00000380793.3:n.445-17C>T
ENST00000397676.7:c.445-17C>T (ALG3) ENSP00000380793.3:n.445-17C>T
ENST00000411922.5:c.*21-17C>T (ALG3) ENSP00000394917.1:n.*21-17C>T
ENST00000414845.5:c.337+93C>T (ALG3)
ENST00000423996.5:c.*210-17C>T (ALG3) ENSP00000407011.1:n.*210-17C>T
ENST00000444495.1:c.2106+100668G>A (EIF2B5) ENSP00000409142.1:n.2106+100668G>A
ENST00000445626.6:c.301-17C>T (ALG3) ENSP00000402744.2:n.301-17C>T
ENST00000446569.1:c.155-17C>T (ALG3)
ENST00000455059.5:c.325-17C>T (ALG3) ENSP00000397613.1:n.325-17C>T
ENST00000461415.5:n.418-17C>T (ALG3)
ENST00000482048.1:n.434-17C>T (ALG3)
ENST00000488976.5:n.330-17C>T (ALG3)
NM_001006941.2:c.301-17C>T (ALG3) NP_001006942.1:n.301-17C>T
NM_005787.5:c.445-17C>T (ALG3) NP_005778.1:n.445-17C>T
NR_024533.1:n.376-17C>T (ALG3)
NR_024534.1:n.439-17C>T (ALG3)
XM_011512322.1:c.346-17C>T (ALG3) XP_011510624.1:n.346-17C>T
XM_011512323.1:c.325-17C>T (ALG3) XP_011510625.1:n.325-17C>T
XM_011512323.2:c.325-17C>T (ALG3) XP_011510625.1:n.325-17C>T
XM_024453296.1:c.223-17C>T (ALG3) XP_024309064.1:n.223-17C>T
NM_005787.6:c.445-17C>T (ALG3) MANE Select NP_005778.1:n.445-17C>T
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