Canonical Allele Identifier: CA88878899

Gene: ALG3 EIF2B5

Linked Data

• dbSNP Id: rs749160400
• gnomAD v4: 3-184245169-G-A
• MyVariant Identifiers: chr3:g.183962957G>A (hg19) ; chr3:g.184245169G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184245169G>A , CM000665.2:g.184245169G>A	GRCh38
NC_000003.11:g.183962957G>A , CM000665.1:g.183962957G>A	GRCh37
NC_000003.10:g.185445651G>A	NCBI36
NG_008924.2:g.9344C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397676.8:c.605+29C>T (ALG3) MANE Select	ENSP00000380793.3:n.605+29C>T
ENST00000397676.7:c.605+29C>T (ALG3)	ENSP00000380793.3:n.605+29C>T
ENST00000411922.5:c.*181+29C>T (ALG3)	ENSP00000394917.1:n.*181+29C>T
ENST00000414845.5:c.337+299C>T (ALG3)
ENST00000423996.5:c.*370+29C>T (ALG3)	ENSP00000407011.1:n.*370+29C>T
ENST00000444495.1:c.2106+100462G>A (EIF2B5)	ENSP00000409142.1:n.2106+100462G>A
ENST00000445626.6:c.461+29C>T (ALG3)	ENSP00000402744.2:n.461+29C>T
ENST00000446569.1:c.315+29C>T (ALG3)
ENST00000455059.5:c.485+29C>T (ALG3)	ENSP00000397613.1:n.485+29C>T
ENST00000461415.5:n.607C>T (ALG3)
ENST00000477959.1:n.145+29C>T (ALG3)
ENST00000482048.1:n.623C>T (ALG3)
ENST00000488976.5:n.519C>T (ALG3)
NM_001006941.2:c.461+29C>T (ALG3)	NP_001006942.1:n.461+29C>T
NM_005787.5:c.605+29C>T (ALG3)	NP_005778.1:n.605+29C>T
NR_024533.1:n.536+29C>T (ALG3)
NR_024534.1:n.599+29C>T (ALG3)
XM_011512322.1:c.506+29C>T (ALG3)	XP_011510624.1:n.506+29C>T
XM_011512323.1:c.485+29C>T (ALG3)	XP_011510625.1:n.485+29C>T
XM_011512323.2:c.485+29C>T (ALG3)	XP_011510625.1:n.485+29C>T
XM_024453296.1:c.383+29C>T (ALG3)	XP_024309064.1:n.383+29C>T
NM_005787.6:c.605+29C>T (ALG3) MANE Select	NP_005778.1:n.605+29C>T