Canonical Allele Identifier: CA2729518

Gene: ALG3 EIF2B5

Linked Data

• dbSNP Id: rs765473601
• ExAC: 3:183963086 C / T
• gnomAD v2: 3-183963086-C-T
• gnomAD v3: 3-184245298-C-T
• gnomAD v4: 3-184245298-C-T
• MyVariant Identifiers: chr3:g.183963086C>T (hg19) ; chr3:g.184245298C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184245298C>T , CM000665.2:g.184245298C>T	GRCh38
NC_000003.11:g.183963086C>T , CM000665.1:g.183963086C>T	GRCh37
NC_000003.10:g.185445780C>T	NCBI36
NG_008924.2:g.9215G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397676.8:c.505G>A (ALG3) MANE Select	ENSP00000380793.3:p.Val169Met
ENST00000397676.7:c.505G>A (ALG3)	ENSP00000380793.3:p.Val169Met
ENST00000411922.5:c.*81G>A (ALG3)	ENSP00000394917.1:n.*81G>A
ENST00000414845.5:c.337+170G>A (ALG3)
ENST00000423996.5:c.*270G>A (ALG3)	ENSP00000407011.1:n.*270G>A
ENST00000444495.1:c.2106+100591C>T (EIF2B5)	ENSP00000409142.1:n.2106+100591C>T
ENST00000445626.6:c.361G>A (ALG3)	ENSP00000402744.2:p.Val121Met
ENST00000446569.1:c.215G>A (ALG3)
ENST00000455059.5:c.385G>A (ALG3)	ENSP00000397613.1:p.Val129Met
ENST00000461415.5:n.478G>A (ALG3)
ENST00000477959.1:n.45G>A (ALG3)
ENST00000482048.1:n.494G>A (ALG3)
ENST00000488976.5:n.390G>A (ALG3)
NM_001006941.2:c.361G>A (ALG3)	NP_001006942.1:p.Val121Met
NM_005787.5:c.505G>A (ALG3)	NP_005778.1:p.Val169Met
NR_024533.1:n.436G>A (ALG3)
NR_024534.1:n.499G>A (ALG3)
XM_011512322.1:c.406G>A (ALG3)	XP_011510624.1:p.Val136Met
XM_011512323.1:c.385G>A (ALG3)	XP_011510625.1:p.Val129Met
XM_011512323.2:c.385G>A (ALG3)	XP_011510625.1:p.Val129Met
XM_024453296.1:c.283G>A (ALG3)	XP_024309064.1:p.Val95Met
NM_005787.6:c.505G>A (ALG3) MANE Select	NP_005778.1:p.Val169Met