Canonical Allele Identifier: CA355420876

Gene: ALG3 EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183962995C>A (hg19) ; chr3:g.184245207C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184245207C>A , CM000665.2:g.184245207C>A	GRCh38
NC_000003.11:g.183962995C>A , CM000665.1:g.183962995C>A	GRCh37
NC_000003.10:g.185445689C>A	NCBI36
NG_008924.2:g.9306G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397676.8:c.596G>T (ALG3) MANE Select	ENSP00000380793.3:p.Cys199Phe
ENST00000397676.7:c.596G>T (ALG3)	ENSP00000380793.3:p.Cys199Phe
ENST00000411922.5:c.*172G>T (ALG3)	ENSP00000394917.1:n.*172G>T
ENST00000414845.5:c.337+261G>T (ALG3)
ENST00000423996.5:c.*361G>T (ALG3)	ENSP00000407011.1:n.*361G>T
ENST00000444495.1:c.2106+100500C>A (EIF2B5)	ENSP00000409142.1:n.2106+100500C>A
ENST00000445626.6:c.452G>T (ALG3)	ENSP00000402744.2:p.Cys151Phe
ENST00000446569.1:c.306G>T (ALG3)
ENST00000455059.5:c.476G>T (ALG3)	ENSP00000397613.1:p.Cys159Phe
ENST00000461415.5:n.569G>T (ALG3)
ENST00000477959.1:n.136G>T (ALG3)
ENST00000482048.1:n.585G>T (ALG3)
ENST00000488976.5:n.481G>T (ALG3)
NM_001006941.2:c.452G>T (ALG3)	NP_001006942.1:p.Cys151Phe
NM_005787.5:c.596G>T (ALG3)	NP_005778.1:p.Cys199Phe
NR_024533.1:n.527G>T (ALG3)
NR_024534.1:n.590G>T (ALG3)
XM_011512322.1:c.497G>T (ALG3)	XP_011510624.1:p.Cys166Phe
XM_011512323.1:c.476G>T (ALG3)	XP_011510625.1:p.Cys159Phe
XM_011512323.2:c.476G>T (ALG3)	XP_011510625.1:p.Cys159Phe
XM_024453296.1:c.374G>T (ALG3)	XP_024309064.1:p.Cys125Phe
NM_005787.6:c.596G>T (ALG3) MANE Select	NP_005778.1:p.Cys199Phe