Canonical Allele Identifier: CA437327200

Gene: ALG3 EIF2B5

Linked Data

• gnomAD v4: 3-184245206-G-A
• MyVariant Identifiers: chr3:g.183962994G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184245206G>A , CM000665.2:g.184245206G>A	GRCh38
NC_000003.11:g.183962994G>A , CM000665.1:g.183962994G>A	GRCh37
NC_000003.10:g.185445688G>A	NCBI36
NG_008924.2:g.9307C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397676.8:c.597C>T (ALG3) MANE Select	ENSP00000380793.3:p.Cys199=
ENST00000397676.7:c.597C>T (ALG3)	ENSP00000380793.3:p.Cys199=
ENST00000411922.5:c.*173C>T (ALG3)	ENSP00000394917.1:n.*173C>T
ENST00000414845.5:c.337+262C>T (ALG3)
ENST00000423996.5:c.*362C>T (ALG3)	ENSP00000407011.1:n.*362C>T
ENST00000444495.1:c.2106+100499G>A (EIF2B5)	ENSP00000409142.1:n.2106+100499G>A
ENST00000445626.6:c.453C>T (ALG3)	ENSP00000402744.2:p.Cys151=
ENST00000446569.1:c.307C>T (ALG3)
ENST00000455059.5:c.477C>T (ALG3)	ENSP00000397613.1:p.Cys159=
ENST00000461415.5:n.570C>T (ALG3)
ENST00000477959.1:n.137C>T (ALG3)
ENST00000482048.1:n.586C>T (ALG3)
ENST00000488976.5:n.482C>T (ALG3)
NM_001006941.2:c.453C>T (ALG3)	NP_001006942.1:p.Cys151=
NM_005787.5:c.597C>T (ALG3)	NP_005778.1:p.Cys199=
NR_024533.1:n.528C>T (ALG3)
NR_024534.1:n.591C>T (ALG3)
XM_011512322.1:c.498C>T (ALG3)	XP_011510624.1:p.Cys166=
XM_011512323.1:c.477C>T (ALG3)	XP_011510625.1:p.Cys159=
XM_011512323.2:c.477C>T (ALG3)	XP_011510625.1:p.Cys159=
XM_024453296.1:c.375C>T (ALG3)	XP_024309064.1:p.Cys125=
NM_005787.6:c.597C>T (ALG3) MANE Select	NP_005778.1:p.Cys199=