Canonical Allele Identifier: CA355421309

Gene: ALG3 EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183963091A>G (hg19) ; chr3:g.184245303A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184245303A>G , CM000665.2:g.184245303A>G	GRCh38
NC_000003.11:g.183963091A>G , CM000665.1:g.183963091A>G	GRCh37
NC_000003.10:g.185445785A>G	NCBI36
NG_008924.2:g.9210T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397676.8:c.500T>C (ALG3) MANE Select	ENSP00000380793.3:p.Ile167Thr
ENST00000397676.7:c.500T>C (ALG3)	ENSP00000380793.3:p.Ile167Thr
ENST00000411922.5:c.*76T>C (ALG3)	ENSP00000394917.1:n.*76T>C
ENST00000414845.5:c.337+165T>C (ALG3)
ENST00000423996.5:c.*265T>C (ALG3)	ENSP00000407011.1:n.*265T>C
ENST00000444495.1:c.2106+100596A>G (EIF2B5)	ENSP00000409142.1:n.2106+100596A>G
ENST00000445626.6:c.356T>C (ALG3)	ENSP00000402744.2:p.Ile119Thr
ENST00000446569.1:c.210T>C (ALG3)
ENST00000455059.5:c.380T>C (ALG3)	ENSP00000397613.1:p.Ile127Thr
ENST00000461415.5:n.473T>C (ALG3)
ENST00000477959.1:n.40T>C (ALG3)
ENST00000482048.1:n.489T>C (ALG3)
ENST00000488976.5:n.385T>C (ALG3)
NM_001006941.2:c.356T>C (ALG3)	NP_001006942.1:p.Ile119Thr
NM_005787.5:c.500T>C (ALG3)	NP_005778.1:p.Ile167Thr
NR_024533.1:n.431T>C (ALG3)
NR_024534.1:n.494T>C (ALG3)
XM_011512322.1:c.401T>C (ALG3)	XP_011510624.1:p.Ile134Thr
XM_011512323.1:c.380T>C (ALG3)	XP_011510625.1:p.Ile127Thr
XM_011512323.2:c.380T>C (ALG3)	XP_011510625.1:p.Ile127Thr
XM_024453296.1:c.278T>C (ALG3)	XP_024309064.1:p.Ile93Thr
NM_005787.6:c.500T>C (ALG3) MANE Select	NP_005778.1:p.Ile167Thr