Canonical Allele Identifier: CA355420968

Gene: ALG3 EIF2B5

Linked Data

• dbSNP Id: rs1382992377
• gnomAD v2: 3-183963008-C-T
• gnomAD v3: 3-184245220-C-T
• gnomAD v4: 3-184245220-C-T
• MyVariant Identifiers: chr3:g.183963008C>T (hg19) ; chr3:g.184245220C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184245220C>T , CM000665.2:g.184245220C>T	GRCh38
NC_000003.11:g.183963008C>T , CM000665.1:g.183963008C>T	GRCh37
NC_000003.10:g.185445702C>T	NCBI36
NG_008924.2:g.9293G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397676.8:c.583G>A (ALG3) MANE Select	ENSP00000380793.3:p.Gly195Ser
ENST00000397676.7:c.583G>A (ALG3)	ENSP00000380793.3:p.Gly195Ser
ENST00000411922.5:c.*159G>A (ALG3)	ENSP00000394917.1:n.*159G>A
ENST00000414845.5:c.337+248G>A (ALG3)
ENST00000423996.5:c.*348G>A (ALG3)	ENSP00000407011.1:n.*348G>A
ENST00000444495.1:c.2106+100513C>T (EIF2B5)	ENSP00000409142.1:n.2106+100513C>T
ENST00000445626.6:c.439G>A (ALG3)	ENSP00000402744.2:p.Gly147Ser
ENST00000446569.1:c.293G>A (ALG3)
ENST00000455059.5:c.463G>A (ALG3)	ENSP00000397613.1:p.Gly155Ser
ENST00000461415.5:n.556G>A (ALG3)
ENST00000477959.1:n.123G>A (ALG3)
ENST00000482048.1:n.572G>A (ALG3)
ENST00000488976.5:n.468G>A (ALG3)
NM_001006941.2:c.439G>A (ALG3)	NP_001006942.1:p.Gly147Ser
NM_005787.5:c.583G>A (ALG3)	NP_005778.1:p.Gly195Ser
NR_024533.1:n.514G>A (ALG3)
NR_024534.1:n.577G>A (ALG3)
XM_011512322.1:c.484G>A (ALG3)	XP_011510624.1:p.Gly162Ser
XM_011512323.1:c.463G>A (ALG3)	XP_011510625.1:p.Gly155Ser
XM_011512323.2:c.463G>A (ALG3)	XP_011510625.1:p.Gly155Ser
XM_024453296.1:c.361G>A (ALG3)	XP_024309064.1:p.Gly121Ser
NM_005787.6:c.583G>A (ALG3) MANE Select	NP_005778.1:p.Gly195Ser