Canonical Allele Identifier: CA437327309

Gene: ALG3 EIF2B5

Linked Data

• gnomAD v4: 3-184245287-G-A
• MyVariant Identifiers: chr3:g.183963075G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184245287G>A , CM000665.2:g.184245287G>A	GRCh38
NC_000003.11:g.183963075G>A , CM000665.1:g.183963075G>A	GRCh37
NC_000003.10:g.185445769G>A	NCBI36
NG_008924.2:g.9226C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397676.8:c.516C>T (ALG3) MANE Select	ENSP00000380793.3:p.Leu172=
ENST00000397676.7:c.516C>T (ALG3)	ENSP00000380793.3:p.Leu172=
ENST00000411922.5:c.*92C>T (ALG3)	ENSP00000394917.1:n.*92C>T
ENST00000414845.5:c.337+181C>T (ALG3)
ENST00000423996.5:c.*281C>T (ALG3)	ENSP00000407011.1:n.*281C>T
ENST00000444495.1:c.2106+100580G>A (EIF2B5)	ENSP00000409142.1:n.2106+100580G>A
ENST00000445626.6:c.372C>T (ALG3)	ENSP00000402744.2:p.Leu124=
ENST00000446569.1:c.226C>T (ALG3)
ENST00000455059.5:c.396C>T (ALG3)	ENSP00000397613.1:p.Leu132=
ENST00000461415.5:n.489C>T (ALG3)
ENST00000477959.1:n.56C>T (ALG3)
ENST00000482048.1:n.505C>T (ALG3)
ENST00000488976.5:n.401C>T (ALG3)
NM_001006941.2:c.372C>T (ALG3)	NP_001006942.1:p.Leu124=
NM_005787.5:c.516C>T (ALG3)	NP_005778.1:p.Leu172=
NR_024533.1:n.447C>T (ALG3)
NR_024534.1:n.510C>T (ALG3)
XM_011512322.1:c.417C>T (ALG3)	XP_011510624.1:p.Leu139=
XM_011512323.1:c.396C>T (ALG3)	XP_011510625.1:p.Leu132=
XM_011512323.2:c.396C>T (ALG3)	XP_011510625.1:p.Leu132=
XM_024453296.1:c.294C>T (ALG3)	XP_024309064.1:p.Leu98=
NM_005787.6:c.516C>T (ALG3) MANE Select	NP_005778.1:p.Leu172=