Canonical Allele Identifier: CA355421190

Gene: ALG3 EIF2B5

Linked Data

• dbSNP Id: rs1719067138
• gnomAD v3: 3-184245266-C-T
• gnomAD v4: 3-184245266-C-T
• MyVariant Identifiers: chr3:g.183963054C>T (hg19) ; chr3:g.184245266C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184245266C>T , CM000665.2:g.184245266C>T	GRCh38
NC_000003.11:g.183963054C>T , CM000665.1:g.183963054C>T	GRCh37
NC_000003.10:g.185445748C>T	NCBI36
NG_008924.2:g.9247G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397676.8:c.537G>A (ALG3) MANE Select	ENSP00000380793.3:p.Met179Ile
ENST00000397676.7:c.537G>A (ALG3)	ENSP00000380793.3:p.Met179Ile
ENST00000411922.5:c.*113G>A (ALG3)	ENSP00000394917.1:n.*113G>A
ENST00000414845.5:c.337+202G>A (ALG3)
ENST00000423996.5:c.*302G>A (ALG3)	ENSP00000407011.1:n.*302G>A
ENST00000444495.1:c.2106+100559C>T (EIF2B5)	ENSP00000409142.1:n.2106+100559C>T
ENST00000445626.6:c.393G>A (ALG3)	ENSP00000402744.2:p.Met131Ile
ENST00000446569.1:c.247G>A (ALG3)
ENST00000455059.5:c.417G>A (ALG3)	ENSP00000397613.1:p.Met139Ile
ENST00000461415.5:n.510G>A (ALG3)
ENST00000477959.1:n.77G>A (ALG3)
ENST00000482048.1:n.526G>A (ALG3)
ENST00000488976.5:n.422G>A (ALG3)
NM_001006941.2:c.393G>A (ALG3)	NP_001006942.1:p.Met131Ile
NM_005787.5:c.537G>A (ALG3)	NP_005778.1:p.Met179Ile
NR_024533.1:n.468G>A (ALG3)
NR_024534.1:n.531G>A (ALG3)
XM_011512322.1:c.438G>A (ALG3)	XP_011510624.1:p.Met146Ile
XM_011512323.1:c.417G>A (ALG3)	XP_011510625.1:p.Met139Ile
XM_011512323.2:c.417G>A (ALG3)	XP_011510625.1:p.Met139Ile
XM_024453296.1:c.315G>A (ALG3)	XP_024309064.1:p.Met105Ile
NM_005787.6:c.537G>A (ALG3) MANE Select	NP_005778.1:p.Met179Ile