Canonical Allele Identifier: CA355421808

Gene: ALG3 EIF2B5

Linked Data

• dbSNP Id: rs1336381196
• gnomAD v2: 3-183963344-G-A
• MyVariant Identifiers: chr3:g.183963344G>A (hg19) ; chr3:g.184245556G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184245556G>A , CM000665.2:g.184245556G>A	GRCh38
NC_000003.11:g.183963344G>A , CM000665.1:g.183963344G>A	GRCh37
NC_000003.10:g.185446038G>A	NCBI36
NG_008924.2:g.8957C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397676.8:c.356C>T (ALG3) MANE Select	ENSP00000380793.3:p.Thr119Ile
ENST00000397676.7:c.356C>T (ALG3)	ENSP00000380793.3:p.Thr119Ile
ENST00000411922.5:c.256C>T (ALG3)	ENSP00000394917.1:p.Leu86=
ENST00000414845.5:c.249C>T (ALG3)
ENST00000423996.5:c.*121C>T (ALG3)	ENSP00000407011.1:n.*121C>T
ENST00000444495.1:c.2106+100849G>A (EIF2B5)	ENSP00000409142.1:n.2106+100849G>A
ENST00000445626.6:c.212C>T (ALG3)	ENSP00000402744.2:p.Thr71Ile
ENST00000446569.1:c.155-198C>T (ALG3)
ENST00000455059.5:c.236C>T (ALG3)	ENSP00000397613.1:p.Thr79Ile
ENST00000461415.5:n.329C>T (ALG3)
ENST00000482048.1:n.345C>T (ALG3)
ENST00000488976.5:n.241C>T (ALG3)
NM_001006941.2:c.212C>T (ALG3)	NP_001006942.1:p.Thr71Ile
NM_005787.5:c.356C>T (ALG3)	NP_005778.1:p.Thr119Ile
NR_024533.1:n.287C>T (ALG3)
NR_024534.1:n.350C>T (ALG3)
XM_011512322.1:c.257C>T (ALG3)	XP_011510624.1:p.Thr86Ile
XM_011512323.1:c.236C>T (ALG3)	XP_011510625.1:p.Thr79Ile
XM_011512323.2:c.236C>T (ALG3)	XP_011510625.1:p.Thr79Ile
XM_024453296.1:c.134C>T (ALG3)	XP_024309064.1:p.Thr45Ile
NM_005787.6:c.356C>T (ALG3) MANE Select	NP_005778.1:p.Thr119Ile