Canonical Allele Identifier: CA437162050

Gene: ALG3 EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183963599G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184245811G>A , CM000665.2:g.184245811G>A	GRCh38
NC_000003.11:g.183963599G>A , CM000665.1:g.183963599G>A	GRCh37
NC_000003.10:g.185446293G>A	NCBI36
NG_008924.2:g.8702C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000397676.8:c.198C>T (ALG3) MANE Select	ENSP00000380793.3:p.Tyr66=
ENST00000397676.7:c.198C>T (ALG3)	ENSP00000380793.3:p.Tyr66=
ENST00000411922.5:c.197-196C>T (ALG3)	ENSP00000394917.1:n.197-196C>T
ENST00000414845.5:c.190-196C>T (ALG3)
ENST00000423996.5:c.161C>T (ALG3)	ENSP00000407011.1:p.Thr54Ile
ENST00000444495.1:c.2106+101104G>A (EIF2B5)	ENSP00000409142.1:n.2106+101104G>A
ENST00000445626.6:c.54C>T (ALG3)	ENSP00000402744.2:p.Asp18=
ENST00000446569.1:c.155-453C>T (ALG3)
ENST00000455059.5:c.78C>T (ALG3)	ENSP00000397613.1:p.Asp26=
ENST00000461415.5:n.171C>T (ALG3)
ENST00000482048.1:n.187C>T (ALG3)
ENST00000488976.5:n.182-196C>T (ALG3)
NM_001006941.2:c.54C>T (ALG3)	NP_001006942.1:p.Asp18=
NM_005787.5:c.198C>T (ALG3)	NP_005778.1:p.Tyr66=
NR_024533.1:n.228-196C>T (ALG3)
NR_024534.1:n.192C>T (ALG3)
XM_011512322.1:c.99C>T (ALG3)	XP_011510624.1:p.Asp33=
XM_011512323.1:c.78C>T (ALG3)	XP_011510625.1:p.Asp26=
XM_011512323.2:c.78C>T (ALG3)	XP_011510625.1:p.Asp26=
XM_024453296.1:c.-25C>T (ALG3)	XP_024309064.1:n.-25C>T
NM_005787.6:c.198C>T (ALG3) MANE Select	NP_005778.1:p.Tyr66=