Canonical Allele Identifier: CA2122041727

Gene: APEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20457098G= , CM000676.2:g.20457098G=	GRCh38
NC_000014.8:g.20925257G= , CM000676.1:g.20925257G=	GRCh37
NC_000014.7:g.19995097G=	NCBI36
NG_008718.1:g.6968G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216714.8:c.547G= MANE Select	ENSP00000216714.3:p.Glu183=
ENST00000216714.7:c.547G=	ENSP00000216714.3:p.Glu183=
ENST00000398030.8:c.547G=	ENSP00000381111.4:p.Glu183=
ENST00000438886.1:c.327G=
ENST00000553555.5:n.967G=
ENST00000553681.5:c.547G=	ENSP00000451327.1:p.Glu183=
ENST00000554813.5:n.613G=
ENST00000555414.5:c.547G=	ENSP00000451979.1:p.Glu183=
ENST00000555839.5:c.460G=	ENSP00000452460.1:p.Glu154=
ENST00000557054.1:c.28-25G=	ENSP00000452212.2:n.28-25G=
ENST00000557159.5:n.1163G=
ENST00000557365.1:n.627G=
ENST00000557592.5:c.496G=	ENSP00000451060.1:p.Glu166=
NM_001244249.1:c.547G=	NP_001231178.1:p.Glu183=
NM_001641.3:c.547G=	NP_001632.2:p.Glu183=
NM_080648.2:c.547G=	NP_542379.1:p.Glu183=
NM_080649.2:c.547G=	NP_542380.1:p.Glu183=
XM_005267581.3:c.547G=	XP_005267638.1:p.Glu183=
XM_005267582.3:c.496G=	XP_005267639.1:p.Glu166=
NM_001641.4:c.547G= MANE Select	NP_001632.2:p.Glu183=
NM_001244249.2:c.547G=	NP_001231178.1:p.Glu183=
NM_080648.3:c.547G=	NP_542379.1:p.Glu183=
NM_080649.3:c.547G=	NP_542380.1:p.Glu183=