Canonical Allele Identifier: CA2122041104

Gene: APEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20456811C= , CM000676.2:g.20456811C=	GRCh38
NC_000014.8:g.20924970C= , CM000676.1:g.20924970C=	GRCh37
NC_000014.7:g.19994810C=	NCBI36
NG_008718.1:g.6681C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216714.8:c.390C= MANE Select	ENSP00000216714.3:p.Gly130=
ENST00000216714.7:c.390C=	ENSP00000216714.3:p.Gly130=
ENST00000398030.8:c.390C=	ENSP00000381111.4:p.Gly130=
ENST00000438886.1:c.239C=
ENST00000553555.5:n.810C=
ENST00000553681.5:c.390C=	ENSP00000451327.1:p.Gly130=
ENST00000554813.5:n.456C=
ENST00000555306.5:n.837C=
ENST00000555414.5:c.390C=	ENSP00000451979.1:p.Gly130=
ENST00000555839.5:c.390C=	ENSP00000452460.1:p.Gly130=
ENST00000556054.5:c.390C=	ENSP00000451170.1:p.Gly130=
ENST00000557054.1:c.28-312C=	ENSP00000452212.2:n.28-312C=
ENST00000557150.5:c.339C=	ENSP00000452418.1:p.Gly113=
ENST00000557159.5:n.1006C=
ENST00000557344.5:c.390C=	ENSP00000452137.1:p.Gly130=
ENST00000557365.1:n.470C=
ENST00000557592.5:c.339C=	ENSP00000451060.1:p.Gly113=
NM_001244249.1:c.390C=	NP_001231178.1:p.Gly130=
NM_001641.3:c.390C=	NP_001632.2:p.Gly130=
NM_080648.2:c.390C=	NP_542379.1:p.Gly130=
NM_080649.2:c.390C=	NP_542380.1:p.Gly130=
XM_005267581.3:c.390C=	XP_005267638.1:p.Gly130=
XM_005267582.3:c.339C=	XP_005267639.1:p.Gly113=
NM_001641.4:c.390C= MANE Select	NP_001632.2:p.Gly130=
NM_001244249.2:c.390C=	NP_001231178.1:p.Gly130=
NM_080648.3:c.390C=	NP_542379.1:p.Gly130=
NM_080649.3:c.390C=	NP_542380.1:p.Gly130=