Canonical Allele Identifier: CA7980488

Gene: EIF3CL

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28391833T>C , CM000678.2:g.28391833T>C	GRCh38
NC_000016.9:g.28403154T>C , CM000678.1:g.28403154T>C	GRCh37
NC_000016.8:g.28310655T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001317857.2:c.962A>G MANE Select	NP_001304786.1:p.Lys321Arg
ENST00000380876.5:c.962A>G MANE Select	ENSP00000370258.5:p.Lys321Arg
NM_001099661.1:c.962A>G	NP_001093131.1:p.Lys321Arg
NM_001099661.2:c.962A>G	NP_001093131.1:p.Lys321Arg
NM_001317856.1:c.962A>G	NP_001304785.1:p.Lys321Arg
NM_001317857.1:c.962A>G	NP_001304786.1:p.Lys321Arg
ENST00000380876.4:c.962A>G	ENSP00000370258.4:p.Lys321Arg
ENST00000398944.7:c.962A>G	ENSP00000381917.3:p.Lys321Arg
XM_005255535.2:c.962A>G	XP_005255592.1:p.Lys321Arg
XM_017023620.2:c.962A>G	XP_016879109.1:p.Lys321Arg
XM_017023621.1:c.11A>G	XP_016879110.1:p.Lys4Arg