Canonical Allele Identifier: CA2729506

Gene: ALG3 EIF2B5

Linked Data

• ClinVar Variation Id: 3047306
• ClinVar RCV Id: RCV003947173
• dbSNP Id: rs369032582
• ExAC: 3:183963051 C / T
• gnomAD v2: 3-183963051-C-T
• gnomAD v3: 3-184245263-C-T
• gnomAD v4: 3-184245263-C-T
• COSMIC: COSM729563 ; COSM1149684
• MyVariant Identifiers: chr3:g.183963051C>T (hg19) ; chr3:g.184245263C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184245263C>T , CM000665.2:g.184245263C>T	GRCh38
NC_000003.11:g.183963051C>T , CM000665.1:g.183963051C>T	GRCh37
NC_000003.10:g.185445745C>T	NCBI36
NG_008924.2:g.9250G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397676.8:c.540G>A (ALG3) MANE Select	ENSP00000380793.3:p.Val180=
ENST00000397676.7:c.540G>A (ALG3)	ENSP00000380793.3:p.Val180=
ENST00000411922.5:c.*116G>A (ALG3)	ENSP00000394917.1:n.*116G>A
ENST00000414845.5:c.337+205G>A (ALG3)
ENST00000423996.5:c.*305G>A (ALG3)	ENSP00000407011.1:n.*305G>A
ENST00000444495.1:c.2106+100556C>T (EIF2B5)	ENSP00000409142.1:n.2106+100556C>T
ENST00000445626.6:c.396G>A (ALG3)	ENSP00000402744.2:p.Val132=
ENST00000446569.1:c.250G>A (ALG3)
ENST00000455059.5:c.420G>A (ALG3)	ENSP00000397613.1:p.Val140=
ENST00000461415.5:n.513G>A (ALG3)
ENST00000477959.1:n.80G>A (ALG3)
ENST00000482048.1:n.529G>A (ALG3)
ENST00000488976.5:n.425G>A (ALG3)
NM_001006941.2:c.396G>A (ALG3)	NP_001006942.1:p.Val132=
NM_005787.5:c.540G>A (ALG3)	NP_005778.1:p.Val180=
NR_024533.1:n.471G>A (ALG3)
NR_024534.1:n.534G>A (ALG3)
XM_011512322.1:c.441G>A (ALG3)	XP_011510624.1:p.Val147=
XM_011512323.1:c.420G>A (ALG3)	XP_011510625.1:p.Val140=
XM_011512323.2:c.420G>A (ALG3)	XP_011510625.1:p.Val140=
XM_024453296.1:c.318G>A (ALG3)	XP_024309064.1:p.Val106=
NM_005787.6:c.540G>A (ALG3) MANE Select	NP_005778.1:p.Val180=