Canonical Allele Identifier: CA1425932760

Gene: ALG3 EIF2B5

Linked Data

• dbSNP Id: rs1719323428
• gnomAD v4: 3-184248688-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184248688T>C , CM000665.2:g.184248688T>C	GRCh38
NC_000003.11:g.183966476T>C , CM000665.1:g.183966476T>C	GRCh37
NC_000003.10:g.185449170T>C	NCBI36
NG_008924.2:g.5825A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397676.8:c.196+57A>G (ALG3) MANE Select	ENSP00000380793.3:n.196+57A>G
ENST00000397676.7:c.196+57A>G (ALG3)	ENSP00000380793.3:n.196+57A>G
ENST00000411922.5:c.196+57A>G (ALG3)	ENSP00000394917.1:n.196+57A>G
ENST00000414845.5:c.189+57A>G (ALG3)
ENST00000423996.5:c.159+94A>G (ALG3)	ENSP00000407011.1:n.159+94A>G
ENST00000444495.1:c.2106+103981T>C (EIF2B5)	ENSP00000409142.1:n.2106+103981T>C
ENST00000445626.6:c.52+538A>G (ALG3)	ENSP00000402744.2:n.52+538A>G
ENST00000446569.1:c.154+94A>G (ALG3)
ENST00000455059.5:c.76+302A>G (ALG3)	ENSP00000397613.1:n.76+302A>G
ENST00000461415.5:n.169+94A>G (ALG3)
ENST00000482048.1:n.185+57A>G (ALG3)
ENST00000488976.5:n.181+94A>G (ALG3)
NM_001006941.2:c.52+538A>G (ALG3)	NP_001006942.1:n.52+538A>G
NM_005787.5:c.196+57A>G (ALG3)	NP_005778.1:n.196+57A>G
NR_024533.1:n.227+57A>G (ALG3)
NR_024534.1:n.190+94A>G (ALG3)
XM_011512323.1:c.76+302A>G (ALG3)	XP_011510625.1:n.76+302A>G
XM_011512323.2:c.76+302A>G (ALG3)	XP_011510625.1:n.76+302A>G
XM_024453296.1:c.-26-2876A>G (ALG3)	XP_024309064.1:n.-26-2876A>G
NM_005787.6:c.196+57A>G (ALG3) MANE Select	NP_005778.1:n.196+57A>G