Canonical Allele Identifier: CA355418011

Gene: ALG3 EIF2B5

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184242930T>C , CM000665.2:g.184242930T>C	GRCh38
NC_000003.11:g.183960718T>C , CM000665.1:g.183960718T>C	GRCh37
NC_000003.10:g.185443412T>C	NCBI36
NG_008924.2:g.11583A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_005787.6:c.1037A>G (ALG3) MANE Select	NP_005778.1:p.Asn346Ser
ENST00000397676.8:c.1037A>G (ALG3) MANE Select	ENSP00000380793.3:p.Asn346Ser
NM_001006941.2:c.893A>G (ALG3)	NP_001006942.1:p.Asn298Ser
NM_005787.5:c.1037A>G (ALG3)	NP_005778.1:p.Asn346Ser
NR_024533.1:n.968A>G (ALG3)
NR_024534.1:n.1031A>G (ALG3)
ENST00000397676.7:c.1037A>G (ALG3)	ENSP00000380793.3:p.Asn346Ser
ENST00000411922.5:c.*613A>G (ALG3)	ENSP00000394917.1:n.*613A>G
ENST00000414845.5:c.769A>G (ALG3)
ENST00000444495.1:c.2106+98223T>C (EIF2B5)	ENSP00000409142.1:n.2106+98223T>C
ENST00000445626.6:c.893A>G (ALG3)	ENSP00000402744.2:p.Asn298Ser
ENST00000446569.1:c.747A>G (ALG3)
ENST00000455059.5:c.917A>G (ALG3)	ENSP00000397613.1:p.Asn306Ser
ENST00000485912.1:n.660A>G (ALG3)
XM_011512322.1:c.938A>G (ALG3)	XP_011510624.1:p.Asn313Ser
XM_011512323.1:c.917A>G (ALG3)	XP_011510625.1:p.Asn306Ser
XM_011512323.2:c.917A>G (ALG3)	XP_011510625.1:p.Asn306Ser
XM_024453296.1:c.815A>G (ALG3)	XP_024309064.1:p.Asn272Ser