Canonical Allele Identifier: CA2668819949

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.184248683C>A , CM000665.2:g.184248683C>A GRCh38
NC_000003.11:g.183966471C>A , CM000665.1:g.183966471C>A GRCh37
NC_000003.10:g.185449165C>A NCBI36
NG_008924.2:g.5830G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000397676.8:c.196+62G>T (ALG3) MANE Select ENSP00000380793.3:n.196+62G>T
ENST00000397676.7:c.196+62G>T (ALG3) ENSP00000380793.3:n.196+62G>T
ENST00000411922.5:c.196+62G>T (ALG3) ENSP00000394917.1:n.196+62G>T
ENST00000414845.5:c.189+62G>T (ALG3)
ENST00000423996.5:c.159+99G>T (ALG3) ENSP00000407011.1:n.159+99G>T
ENST00000444495.1:c.2106+103976C>A (EIF2B5) ENSP00000409142.1:n.2106+103976C>A
ENST00000445626.6:c.52+543G>T (ALG3) ENSP00000402744.2:n.52+543G>T
ENST00000446569.1:c.154+99G>T (ALG3)
ENST00000455059.5:c.76+307G>T (ALG3) ENSP00000397613.1:n.76+307G>T
ENST00000461415.5:n.169+99G>T (ALG3)
ENST00000482048.1:n.185+62G>T (ALG3)
ENST00000488976.5:n.181+99G>T (ALG3)
NM_001006941.2:c.52+543G>T (ALG3) NP_001006942.1:n.52+543G>T
NM_005787.5:c.196+62G>T (ALG3) NP_005778.1:n.196+62G>T
NR_024533.1:n.227+62G>T (ALG3)
NR_024534.1:n.190+99G>T (ALG3)
XM_011512323.1:c.76+307G>T (ALG3) XP_011510625.1:n.76+307G>T
XM_011512323.2:c.76+307G>T (ALG3) XP_011510625.1:n.76+307G>T
XM_024453296.1:c.-26-2871G>T (ALG3) XP_024309064.1:n.-26-2871G>T
NM_005787.6:c.196+62G>T (ALG3) MANE Select NP_005778.1:n.196+62G>T