Canonical Allele Identifier: CA2122042027

Gene: APEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20457232A= , CM000676.2:g.20457232A=	GRCh38
NC_000014.8:g.20925391A= , CM000676.1:g.20925391A=	GRCh37
NC_000014.7:g.19995231A=	NCBI36
NG_008718.1:g.7102A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216714.8:c.681A= MANE Select	ENSP00000216714.3:p.Lys227=
ENST00000216714.7:c.681A=	ENSP00000216714.3:p.Lys227=
ENST00000398030.8:c.681A=	ENSP00000381111.4:p.Lys227=
ENST00000553555.5:n.1101A=
ENST00000553681.5:c.681A=	ENSP00000451327.1:p.Lys227=
ENST00000555414.5:c.681A=	ENSP00000451979.1:p.Lys227=
ENST00000555839.5:c.594A=	ENSP00000452460.1:p.Lys198=
ENST00000557054.1:c.*92A=	ENSP00000452212.2:n.*92A=
ENST00000557159.5:n.1297A=
ENST00000557365.1:n.761A=
NM_001244249.1:c.681A=	NP_001231178.1:p.Lys227=
NM_001641.3:c.681A=	NP_001632.2:p.Lys227=
NM_080648.2:c.681A=	NP_542379.1:p.Lys227=
NM_080649.2:c.681A=	NP_542380.1:p.Lys227=
XM_005267581.3:c.681A=	XP_005267638.1:p.Lys227=
XM_005267582.3:c.630A=	XP_005267639.1:p.Lys210=
NM_001641.4:c.681A= MANE Select	NP_001632.2:p.Lys227=
NM_001244249.2:c.681A=	NP_001231178.1:p.Lys227=
NM_080648.3:c.681A=	NP_542379.1:p.Lys227=
NM_080649.3:c.681A=	NP_542380.1:p.Lys227=