Canonical Allele Identifier: CA2729537

Gene: ALG3 EIF2B5

Linked Data

• dbSNP Id: rs12639447
• ExAC: 3:183963222 C / A
• gnomAD v2: 3-183963222-C-A
• gnomAD v4: 3-184245434-C-A
• MyVariant Identifiers: chr3:g.183963222C>A (hg19) ; chr3:g.184245434C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184245434C>A , CM000665.2:g.184245434C>A	GRCh38
NC_000003.11:g.183963222C>A , CM000665.1:g.183963222C>A	GRCh37
NC_000003.10:g.185445916C>A	NCBI36
NG_008924.2:g.9079G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000397676.8:c.444+34G>T (ALG3) MANE Select	ENSP00000380793.3:n.444+34G>T
ENST00000397676.7:c.444+34G>T (ALG3)	ENSP00000380793.3:n.444+34G>T
ENST00000411922.5:c.*20+34G>T (ALG3)	ENSP00000394917.1:n.*20+34G>T
ENST00000414845.5:c.337+34G>T (ALG3)
ENST00000423996.5:c.*209+34G>T (ALG3)	ENSP00000407011.1:n.*209+34G>T
ENST00000444495.1:c.2106+100727C>A (EIF2B5)	ENSP00000409142.1:n.2106+100727C>A
ENST00000445626.6:c.300+34G>T (ALG3)	ENSP00000402744.2:n.300+34G>T
ENST00000446569.1:c.155-76G>T (ALG3)
ENST00000455059.5:c.324+34G>T (ALG3)	ENSP00000397613.1:n.324+34G>T
ENST00000461415.5:n.417+34G>T (ALG3)
ENST00000482048.1:n.433+34G>T (ALG3)
ENST00000488976.5:n.329+34G>T (ALG3)
NM_001006941.2:c.300+34G>T (ALG3)	NP_001006942.1:n.300+34G>T
NM_005787.5:c.444+34G>T (ALG3)	NP_005778.1:n.444+34G>T
NR_024533.1:n.375+34G>T (ALG3)
NR_024534.1:n.438+34G>T (ALG3)
XM_011512322.1:c.345+34G>T (ALG3)	XP_011510624.1:n.345+34G>T
XM_011512323.1:c.324+34G>T (ALG3)	XP_011510625.1:n.324+34G>T
XM_011512323.2:c.324+34G>T (ALG3)	XP_011510625.1:n.324+34G>T
XM_024453296.1:c.222+34G>T (ALG3)	XP_024309064.1:n.222+34G>T
NM_005787.6:c.444+34G>T (ALG3) MANE Select	NP_005778.1:n.444+34G>T