Canonical Allele Identifier: CA437327374

Gene: ALG3 EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183963313A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184245525A>T , CM000665.2:g.184245525A>T	GRCh38
NC_000003.11:g.183963313A>T , CM000665.1:g.183963313A>T	GRCh37
NC_000003.10:g.185446007A>T	NCBI36
NG_008924.2:g.8988T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000397676.8:c.387T>A (ALG3) MANE Select	ENSP00000380793.3:p.Ala129=
ENST00000397676.7:c.387T>A (ALG3)	ENSP00000380793.3:p.Ala129=
ENST00000411922.5:c.287T>A (ALG3)	ENSP00000394917.1:p.Leu96Gln
ENST00000414845.5:c.280T>A (ALG3)
ENST00000423996.5:c.*152T>A (ALG3)	ENSP00000407011.1:n.*152T>A
ENST00000444495.1:c.2106+100818A>T (EIF2B5)	ENSP00000409142.1:n.2106+100818A>T
ENST00000445626.6:c.243T>A (ALG3)	ENSP00000402744.2:p.Ala81=
ENST00000446569.1:c.155-167T>A (ALG3)
ENST00000455059.5:c.267T>A (ALG3)	ENSP00000397613.1:p.Ala89=
ENST00000461415.5:n.360T>A (ALG3)
ENST00000482048.1:n.376T>A (ALG3)
ENST00000488976.5:n.272T>A (ALG3)
NM_001006941.2:c.243T>A (ALG3)	NP_001006942.1:p.Ala81=
NM_005787.5:c.387T>A (ALG3)	NP_005778.1:p.Ala129=
NR_024533.1:n.318T>A (ALG3)
NR_024534.1:n.381T>A (ALG3)
XM_011512322.1:c.288T>A (ALG3)	XP_011510624.1:p.Ala96=
XM_011512323.1:c.267T>A (ALG3)	XP_011510625.1:p.Ala89=
XM_011512323.2:c.267T>A (ALG3)	XP_011510625.1:p.Ala89=
XM_024453296.1:c.165T>A (ALG3)	XP_024309064.1:p.Ala55=
NM_005787.6:c.387T>A (ALG3) MANE Select	NP_005778.1:p.Ala129=