Canonical Allele Identifier: CA355421686

Gene: ALG3 EIF2B5

Linked Data

• dbSNP Id: rs1272148792
• gnomAD v2: 3-183963314-G-A
• gnomAD v3: 3-184245526-G-A
• gnomAD v4: 3-184245526-G-A
• MyVariant Identifiers: chr3:g.183963314G>A (hg19) ; chr3:g.184245526G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184245526G>A , CM000665.2:g.184245526G>A	GRCh38
NC_000003.11:g.183963314G>A , CM000665.1:g.183963314G>A	GRCh37
NC_000003.10:g.185446008G>A	NCBI36
NG_008924.2:g.8987C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000397676.8:c.386C>T (ALG3) MANE Select	ENSP00000380793.3:p.Ala129Val
ENST00000397676.7:c.386C>T (ALG3)	ENSP00000380793.3:p.Ala129Val
ENST00000411922.5:c.286C>T (ALG3)	ENSP00000394917.1:p.Leu96=
ENST00000414845.5:c.279C>T (ALG3)
ENST00000423996.5:c.*151C>T (ALG3)	ENSP00000407011.1:n.*151C>T
ENST00000444495.1:c.2106+100819G>A (EIF2B5)	ENSP00000409142.1:n.2106+100819G>A
ENST00000445626.6:c.242C>T (ALG3)	ENSP00000402744.2:p.Ala81Val
ENST00000446569.1:c.155-168C>T (ALG3)
ENST00000455059.5:c.266C>T (ALG3)	ENSP00000397613.1:p.Ala89Val
ENST00000461415.5:n.359C>T (ALG3)
ENST00000482048.1:n.375C>T (ALG3)
ENST00000488976.5:n.271C>T (ALG3)
NM_001006941.2:c.242C>T (ALG3)	NP_001006942.1:p.Ala81Val
NM_005787.5:c.386C>T (ALG3)	NP_005778.1:p.Ala129Val
NR_024533.1:n.317C>T (ALG3)
NR_024534.1:n.380C>T (ALG3)
XM_011512322.1:c.287C>T (ALG3)	XP_011510624.1:p.Ala96Val
XM_011512323.1:c.266C>T (ALG3)	XP_011510625.1:p.Ala89Val
XM_011512323.2:c.266C>T (ALG3)	XP_011510625.1:p.Ala89Val
XM_024453296.1:c.164C>T (ALG3)	XP_024309064.1:p.Ala55Val
NM_005787.6:c.386C>T (ALG3) MANE Select	NP_005778.1:p.Ala129Val