Canonical Allele Identifier: CA2577976436

Gene: ALG3 EIF2B5

Linked Data

• gnomAD v4: 3-184248691-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184248691G>T , CM000665.2:g.184248691G>T	GRCh38
NC_000003.11:g.183966479G>T , CM000665.1:g.183966479G>T	GRCh37
NC_000003.10:g.185449173G>T	NCBI36
NG_008924.2:g.5822C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000397676.8:c.196+54C>A (ALG3) MANE Select	ENSP00000380793.3:n.196+54C>A
ENST00000397676.7:c.196+54C>A (ALG3)	ENSP00000380793.3:n.196+54C>A
ENST00000411922.5:c.196+54C>A (ALG3)	ENSP00000394917.1:n.196+54C>A
ENST00000414845.5:c.189+54C>A (ALG3)
ENST00000423996.5:c.159+91C>A (ALG3)	ENSP00000407011.1:n.159+91C>A
ENST00000444495.1:c.2106+103984G>T (EIF2B5)	ENSP00000409142.1:n.2106+103984G>T
ENST00000445626.6:c.52+535C>A (ALG3)	ENSP00000402744.2:n.52+535C>A
ENST00000446569.1:c.154+91C>A (ALG3)
ENST00000455059.5:c.76+299C>A (ALG3)	ENSP00000397613.1:n.76+299C>A
ENST00000461415.5:n.169+91C>A (ALG3)
ENST00000482048.1:n.185+54C>A (ALG3)
ENST00000488976.5:n.181+91C>A (ALG3)
NM_001006941.2:c.52+535C>A (ALG3)	NP_001006942.1:n.52+535C>A
NM_005787.5:c.196+54C>A (ALG3)	NP_005778.1:n.196+54C>A
NR_024533.1:n.227+54C>A (ALG3)
NR_024534.1:n.190+91C>A (ALG3)
XM_011512323.1:c.76+299C>A (ALG3)	XP_011510625.1:n.76+299C>A
XM_011512323.2:c.76+299C>A (ALG3)	XP_011510625.1:n.76+299C>A
XM_024453296.1:c.-26-2879C>A (ALG3)	XP_024309064.1:n.-26-2879C>A
NM_005787.6:c.196+54C>A (ALG3) MANE Select	NP_005778.1:n.196+54C>A