Canonical Allele Identifier: CA355421687

Gene: ALG3 EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183963314G>C (hg19) ; chr3:g.184245526G>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000397676.8:c.386C>G (ALG3) MANE Select	ENSP00000380793.3:p.Ala129Gly
ENST00000397676.7:c.386C>G (ALG3)	ENSP00000380793.3:p.Ala129Gly
ENST00000411922.5:c.286C>G (ALG3)	ENSP00000394917.1:p.Leu96Val
ENST00000414845.5:c.279C>G (ALG3)
ENST00000423996.5:c.*151C>G (ALG3)	ENSP00000407011.1:n.*151C>G
ENST00000444495.1:c.2106+100819G>C (EIF2B5)	ENSP00000409142.1:n.2106+100819G>C
ENST00000445626.6:c.242C>G (ALG3)	ENSP00000402744.2:p.Ala81Gly
ENST00000446569.1:c.155-168C>G (ALG3)
ENST00000455059.5:c.266C>G (ALG3)	ENSP00000397613.1:p.Ala89Gly
ENST00000461415.5:n.359C>G (ALG3)
ENST00000482048.1:n.375C>G (ALG3)
ENST00000488976.5:n.271C>G (ALG3)
NM_001006941.2:c.242C>G (ALG3)	NP_001006942.1:p.Ala81Gly
NM_005787.5:c.386C>G (ALG3)	NP_005778.1:p.Ala129Gly
NR_024533.1:n.317C>G (ALG3)
NR_024534.1:n.380C>G (ALG3)
XM_011512322.1:c.287C>G (ALG3)	XP_011510624.1:p.Ala96Gly
XM_011512323.1:c.266C>G (ALG3)	XP_011510625.1:p.Ala89Gly
XM_011512323.2:c.266C>G (ALG3)	XP_011510625.1:p.Ala89Gly
XM_024453296.1:c.164C>G (ALG3)	XP_024309064.1:p.Ala55Gly
NM_005787.6:c.386C>G (ALG3) MANE Select	NP_005778.1:p.Ala129Gly