Canonical Allele Identifier: CA355426330

Gene: ALG3 EIF2B5

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184248939A>G , CM000665.2:g.184248939A>G	GRCh38
NC_000003.11:g.183966727A>G , CM000665.1:g.183966727A>G	GRCh37
NC_000003.10:g.185449421A>G	NCBI36
NG_008924.2:g.5574T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_005787.6:c.2T>C (ALG3) MANE Select	NP_005778.1:p.Met1Thr
ENST00000397676.8:c.2T>C (ALG3) MANE Select	ENSP00000380793.3:p.Met1Thr
NM_001006941.2:c.52+287T>C (ALG3)	NP_001006942.1:n.52+287T>C
NM_005787.5:c.2T>C (ALG3)	NP_005778.1:p.Met1Thr
NR_024533.1:n.33T>C (ALG3)
NR_024534.1:n.33T>C (ALG3)
ENST00000397676.7:c.2T>C (ALG3)	ENSP00000380793.3:p.Met1Thr
ENST00000411922.5:c.2T>C (ALG3)	ENSP00000394917.1:p.Met1Thr
ENST00000423996.5:c.2T>C (ALG3)	ENSP00000407011.1:p.Met1Thr
ENST00000444495.1:c.2106+104232A>G (EIF2B5)	ENSP00000409142.1:n.2106+104232A>G
ENST00000445626.6:c.52+287T>C (ALG3)	ENSP00000402744.2:n.52+287T>C
ENST00000455059.5:c.76+51T>C (ALG3)	ENSP00000397613.1:n.76+51T>C
ENST00000461415.5:n.12T>C (ALG3)
ENST00000488976.5:n.24T>C (ALG3)
XM_011512323.1:c.76+51T>C (ALG3)	XP_011510625.1:n.76+51T>C
XM_011512323.2:c.76+51T>C (ALG3)	XP_011510625.1:n.76+51T>C
XM_024453296.1:c.-27+2803T>C (ALG3)	XP_024309064.1:n.-27+2803T>C