Canonical Allele Identifier: CA2122033095

Gene: APEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20457510A= , CM000676.2:g.20457510A=	GRCh38
NC_000014.8:g.20925669A= , CM000676.1:g.20925669A=	GRCh37
NC_000014.7:g.19995509A=	NCBI36
NG_008718.1:g.7380A=

Transcript Alleles

HGVS	Amino-acid Change
NM_001641.4:c.*2A= MANE Select	NP_001632.2:n.*2A=
ENST00000216714.8:c.*2A= MANE Select	ENSP00000216714.3:n.*2A=
NM_001244249.1:c.*2A=	NP_001231178.1:n.*2A=
NM_001244249.2:c.*2A=	NP_001231178.1:n.*2A=
NM_001641.3:c.*2A=	NP_001632.2:n.*2A=
NM_080648.2:c.*2A=	NP_542379.1:n.*2A=
NM_080648.3:c.*2A=	NP_542379.1:n.*2A=
NM_080649.2:c.*2A=	NP_542380.1:n.*2A=
NM_080649.3:c.*2A=	NP_542380.1:n.*2A=
ENST00000216714.7:c.*2A=	ENSP00000216714.3:n.*2A=
ENST00000398030.8:c.*2A=	ENSP00000381111.4:n.*2A=
ENST00000553555.5:n.1379A=
ENST00000555414.5:c.*2A=	ENSP00000451979.1:n.*2A=
ENST00000557054.1:c.*370A=	ENSP00000452212.2:n.*370A=
ENST00000557159.5:n.1575A=
XM_005267581.3:c.*2A=	XP_005267638.1:n.*2A=
XM_005267582.3:c.*2A=	XP_005267639.1:n.*2A=