Canonical Allele Identifier: CA2122041688

Gene: APEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20457081G= , CM000676.2:g.20457081G=	GRCh38
NC_000014.8:g.20925240G= , CM000676.1:g.20925240G=	GRCh37
NC_000014.7:g.19995080G=	NCBI36
NG_008718.1:g.6951G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216714.8:c.530G= MANE Select	ENSP00000216714.3:p.Arg177=
ENST00000216714.7:c.530G=	ENSP00000216714.3:p.Arg177=
ENST00000398030.8:c.530G=	ENSP00000381111.4:p.Arg177=
ENST00000438886.1:c.310G=
ENST00000553555.5:n.950G=
ENST00000553681.5:c.530G=	ENSP00000451327.1:p.Arg177=
ENST00000554813.5:n.596G=
ENST00000555414.5:c.530G=	ENSP00000451979.1:p.Arg177=
ENST00000555839.5:c.443G=	ENSP00000452460.1:p.Arg148=
ENST00000557054.1:c.28-42G=	ENSP00000452212.2:n.28-42G=
ENST00000557150.5:c.479G=	ENSP00000452418.1:p.Arg160=
ENST00000557159.5:n.1146G=
ENST00000557365.1:n.610G=
ENST00000557592.5:c.479G=	ENSP00000451060.1:p.Arg160=
NM_001244249.1:c.530G=	NP_001231178.1:p.Arg177=
NM_001641.3:c.530G=	NP_001632.2:p.Arg177=
NM_080648.2:c.530G=	NP_542379.1:p.Arg177=
NM_080649.2:c.530G=	NP_542380.1:p.Arg177=
XM_005267581.3:c.530G=	XP_005267638.1:p.Arg177=
XM_005267582.3:c.479G=	XP_005267639.1:p.Arg160=
NM_001641.4:c.530G= MANE Select	NP_001632.2:p.Arg177=
NM_001244249.2:c.530G=	NP_001231178.1:p.Arg177=
NM_080648.3:c.530G=	NP_542379.1:p.Arg177=
NM_080649.3:c.530G=	NP_542380.1:p.Arg177=