Canonical Allele Identifier: CA355421204

Gene: ALG3 EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183963059C>T (hg19) ; chr3:g.184245271C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184245271C>T , CM000665.2:g.184245271C>T	GRCh38
NC_000003.11:g.183963059C>T , CM000665.1:g.183963059C>T	GRCh37
NC_000003.10:g.185445753C>T	NCBI36
NG_008924.2:g.9242G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397676.8:c.532G>A (ALG3) MANE Select	ENSP00000380793.3:p.Ala178Thr
ENST00000397676.7:c.532G>A (ALG3)	ENSP00000380793.3:p.Ala178Thr
ENST00000411922.5:c.*108G>A (ALG3)	ENSP00000394917.1:n.*108G>A
ENST00000414845.5:c.337+197G>A (ALG3)
ENST00000423996.5:c.*297G>A (ALG3)	ENSP00000407011.1:n.*297G>A
ENST00000444495.1:c.2106+100564C>T (EIF2B5)	ENSP00000409142.1:n.2106+100564C>T
ENST00000445626.6:c.388G>A (ALG3)	ENSP00000402744.2:p.Ala130Thr
ENST00000446569.1:c.242G>A (ALG3)
ENST00000455059.5:c.412G>A (ALG3)	ENSP00000397613.1:p.Ala138Thr
ENST00000461415.5:n.505G>A (ALG3)
ENST00000477959.1:n.72G>A (ALG3)
ENST00000482048.1:n.521G>A (ALG3)
ENST00000488976.5:n.417G>A (ALG3)
NM_001006941.2:c.388G>A (ALG3)	NP_001006942.1:p.Ala130Thr
NM_005787.5:c.532G>A (ALG3)	NP_005778.1:p.Ala178Thr
NR_024533.1:n.463G>A (ALG3)
NR_024534.1:n.526G>A (ALG3)
XM_011512322.1:c.433G>A (ALG3)	XP_011510624.1:p.Ala145Thr
XM_011512323.1:c.412G>A (ALG3)	XP_011510625.1:p.Ala138Thr
XM_011512323.2:c.412G>A (ALG3)	XP_011510625.1:p.Ala138Thr
XM_024453296.1:c.310G>A (ALG3)	XP_024309064.1:p.Ala104Thr
NM_005787.6:c.532G>A (ALG3) MANE Select	NP_005778.1:p.Ala178Thr