Canonical Allele Identifier: CA2729324

Gene: ALG3 EIF2B5

Linked Data

• ClinVar Variation Id: 344348
• ClinVar RCV Id: RCV000514292 ; RCV001087479
• dbSNP Id: rs186946267
• ExAC: 3:183960671 C / T
• gnomAD v2: 3-183960671-C-T
• gnomAD v3: 3-184242883-C-T
• gnomAD v4: 3-184242883-C-T
• MyVariant Identifiers: chr3:g.183960671C>T (hg19) ; chr3:g.184242883C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184242883C>T , CM000665.2:g.184242883C>T	GRCh38
NC_000003.11:g.183960671C>T , CM000665.1:g.183960671C>T	GRCh37
NC_000003.10:g.185443365C>T	NCBI36
NG_008924.2:g.11630G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397676.8:c.1084G>A (ALG3) MANE Select	ENSP00000380793.3:p.Val362Ile
ENST00000397676.7:c.1084G>A (ALG3)	ENSP00000380793.3:p.Val362Ile
ENST00000411922.5:c.*660G>A (ALG3)	ENSP00000394917.1:n.*660G>A
ENST00000444495.1:c.2106+98176C>T (EIF2B5)	ENSP00000409142.1:n.2106+98176C>T
ENST00000445626.6:c.940G>A (ALG3)	ENSP00000402744.2:p.Val314Ile
ENST00000446569.1:c.794G>A (ALG3)
ENST00000455059.5:c.964G>A (ALG3)	ENSP00000397613.1:p.Val322Ile
ENST00000485912.1:n.707G>A (ALG3)
NM_001006941.2:c.940G>A (ALG3)	NP_001006942.1:p.Val314Ile
NM_005787.5:c.1084G>A (ALG3)	NP_005778.1:p.Val362Ile
NR_024533.1:n.1015G>A (ALG3)
NR_024534.1:n.1078G>A (ALG3)
XM_011512322.1:c.985G>A (ALG3)	XP_011510624.1:p.Val329Ile
XM_011512323.1:c.964G>A (ALG3)	XP_011510625.1:p.Val322Ile
XM_011512323.2:c.964G>A (ALG3)	XP_011510625.1:p.Val322Ile
XM_024453296.1:c.862G>A (ALG3)	XP_024309064.1:p.Val288Ile
NM_005787.6:c.1084G>A (ALG3) MANE Select	NP_005778.1:p.Val362Ile