Canonical Allele Identifier: CA2729513

Gene: ALG3 EIF2B5

Linked Data

• ClinVar Variation Id: 2207413
• ClinVar RCV Id: RCV002645277
• dbSNP Id: rs774411827
• ExAC: 3:183963065 G / A
• gnomAD v2: 3-183963065-G-A
• gnomAD v3: 3-184245277-G-A
• gnomAD v4: 3-184245277-G-A
• MyVariant Identifiers: chr3:g.183963065G>A (hg19) ; chr3:g.184245277G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184245277G>A , CM000665.2:g.184245277G>A	GRCh38
NC_000003.11:g.183963065G>A , CM000665.1:g.183963065G>A	GRCh37
NC_000003.10:g.185445759G>A	NCBI36
NG_008924.2:g.9236C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397676.8:c.526C>T (ALG3) MANE Select	ENSP00000380793.3:p.Pro176Ser
ENST00000397676.7:c.526C>T (ALG3)	ENSP00000380793.3:p.Pro176Ser
ENST00000411922.5:c.*102C>T (ALG3)	ENSP00000394917.1:n.*102C>T
ENST00000414845.5:c.337+191C>T (ALG3)
ENST00000423996.5:c.*291C>T (ALG3)	ENSP00000407011.1:n.*291C>T
ENST00000444495.1:c.2106+100570G>A (EIF2B5)	ENSP00000409142.1:n.2106+100570G>A
ENST00000445626.6:c.382C>T (ALG3)	ENSP00000402744.2:p.Pro128Ser
ENST00000446569.1:c.236C>T (ALG3)
ENST00000455059.5:c.406C>T (ALG3)	ENSP00000397613.1:p.Pro136Ser
ENST00000461415.5:n.499C>T (ALG3)
ENST00000477959.1:n.66C>T (ALG3)
ENST00000482048.1:n.515C>T (ALG3)
ENST00000488976.5:n.411C>T (ALG3)
NM_001006941.2:c.382C>T (ALG3)	NP_001006942.1:p.Pro128Ser
NM_005787.5:c.526C>T (ALG3)	NP_005778.1:p.Pro176Ser
NR_024533.1:n.457C>T (ALG3)
NR_024534.1:n.520C>T (ALG3)
XM_011512322.1:c.427C>T (ALG3)	XP_011510624.1:p.Pro143Ser
XM_011512323.1:c.406C>T (ALG3)	XP_011510625.1:p.Pro136Ser
XM_011512323.2:c.406C>T (ALG3)	XP_011510625.1:p.Pro136Ser
XM_024453296.1:c.304C>T (ALG3)	XP_024309064.1:p.Pro102Ser
NM_005787.6:c.526C>T (ALG3) MANE Select	NP_005778.1:p.Pro176Ser