Canonical Allele Identifier: CA355421690

Gene: ALG3 EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183963315C>A (hg19) ; chr3:g.184245527C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184245527C>A , CM000665.2:g.184245527C>A	GRCh38
NC_000003.11:g.183963315C>A , CM000665.1:g.183963315C>A	GRCh37
NC_000003.10:g.185446009C>A	NCBI36
NG_008924.2:g.8986G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000397676.8:c.385G>T (ALG3) MANE Select	ENSP00000380793.3:p.Ala129Ser
ENST00000397676.7:c.385G>T (ALG3)	ENSP00000380793.3:p.Ala129Ser
ENST00000411922.5:c.285G>T (ALG3)	ENSP00000394917.1:p.Leu95Phe
ENST00000414845.5:c.278G>T (ALG3)
ENST00000423996.5:c.*150G>T (ALG3)	ENSP00000407011.1:n.*150G>T
ENST00000444495.1:c.2106+100820C>A (EIF2B5)	ENSP00000409142.1:n.2106+100820C>A
ENST00000445626.6:c.241G>T (ALG3)	ENSP00000402744.2:p.Ala81Ser
ENST00000446569.1:c.155-169G>T (ALG3)
ENST00000455059.5:c.265G>T (ALG3)	ENSP00000397613.1:p.Ala89Ser
ENST00000461415.5:n.358G>T (ALG3)
ENST00000482048.1:n.374G>T (ALG3)
ENST00000488976.5:n.270G>T (ALG3)
NM_001006941.2:c.241G>T (ALG3)	NP_001006942.1:p.Ala81Ser
NM_005787.5:c.385G>T (ALG3)	NP_005778.1:p.Ala129Ser
NR_024533.1:n.316G>T (ALG3)
NR_024534.1:n.379G>T (ALG3)
XM_011512322.1:c.286G>T (ALG3)	XP_011510624.1:p.Ala96Ser
XM_011512323.1:c.265G>T (ALG3)	XP_011510625.1:p.Ala89Ser
XM_011512323.2:c.265G>T (ALG3)	XP_011510625.1:p.Ala89Ser
XM_024453296.1:c.163G>T (ALG3)	XP_024309064.1:p.Ala55Ser
NM_005787.6:c.385G>T (ALG3) MANE Select	NP_005778.1:p.Ala129Ser