Canonical Allele Identifier: CA903713565

Gene: ALG3 EIF2B5

Linked Data

• dbSNP Id: rs1344931508
• gnomAD v4: 3-184248689-T-C
• MyVariant Identifiers: chr3:g.183966477T>C (hg19) ; chr3:g.184248689T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184248689T>C , CM000665.2:g.184248689T>C	GRCh38
NC_000003.11:g.183966477T>C , CM000665.1:g.183966477T>C	GRCh37
NC_000003.10:g.185449171T>C	NCBI36
NG_008924.2:g.5824A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397676.8:c.196+56A>G (ALG3) MANE Select	ENSP00000380793.3:n.196+56A>G
ENST00000397676.7:c.196+56A>G (ALG3)	ENSP00000380793.3:n.196+56A>G
ENST00000411922.5:c.196+56A>G (ALG3)	ENSP00000394917.1:n.196+56A>G
ENST00000414845.5:c.189+56A>G (ALG3)
ENST00000423996.5:c.159+93A>G (ALG3)	ENSP00000407011.1:n.159+93A>G
ENST00000444495.1:c.2106+103982T>C (EIF2B5)	ENSP00000409142.1:n.2106+103982T>C
ENST00000445626.6:c.52+537A>G (ALG3)	ENSP00000402744.2:n.52+537A>G
ENST00000446569.1:c.154+93A>G (ALG3)
ENST00000455059.5:c.76+301A>G (ALG3)	ENSP00000397613.1:n.76+301A>G
ENST00000461415.5:n.169+93A>G (ALG3)
ENST00000482048.1:n.185+56A>G (ALG3)
ENST00000488976.5:n.181+93A>G (ALG3)
NM_001006941.2:c.52+537A>G (ALG3)	NP_001006942.1:n.52+537A>G
NM_005787.5:c.196+56A>G (ALG3)	NP_005778.1:n.196+56A>G
NR_024533.1:n.227+56A>G (ALG3)
NR_024534.1:n.190+93A>G (ALG3)
XM_011512323.1:c.76+301A>G (ALG3)	XP_011510625.1:n.76+301A>G
XM_011512323.2:c.76+301A>G (ALG3)	XP_011510625.1:n.76+301A>G
XM_024453296.1:c.-26-2877A>G (ALG3)	XP_024309064.1:n.-26-2877A>G
NM_005787.6:c.196+56A>G (ALG3) MANE Select	NP_005778.1:n.196+56A>G