Canonical Allele Identifier: CA2122042133

Gene: APEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20457289T= , CM000676.2:g.20457289T=	GRCh38
NC_000014.8:g.20925448T= , CM000676.1:g.20925448T=	GRCh37
NC_000014.7:g.19995288T=	NCBI36
NG_008718.1:g.7159T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216714.8:c.738T= MANE Select	ENSP00000216714.3:p.Ala246=
ENST00000216714.7:c.738T=	ENSP00000216714.3:p.Ala246=
ENST00000398030.8:c.738T=	ENSP00000381111.4:p.Ala246=
ENST00000553555.5:n.1158T=
ENST00000553681.5:c.738T=	ENSP00000451327.1:p.Ala246=
ENST00000555414.5:c.738T=	ENSP00000451979.1:p.Ala246=
ENST00000555839.5:c.651T=	ENSP00000452460.1:p.Ala217=
ENST00000557054.1:c.*149T=	ENSP00000452212.2:n.*149T=
ENST00000557159.5:n.1354T=
ENST00000557365.1:n.818T=
NM_001244249.1:c.738T=	NP_001231178.1:p.Ala246=
NM_001641.3:c.738T=	NP_001632.2:p.Ala246=
NM_080648.2:c.738T=	NP_542379.1:p.Ala246=
NM_080649.2:c.738T=	NP_542380.1:p.Ala246=
XM_005267581.3:c.738T=	XP_005267638.1:p.Ala246=
XM_005267582.3:c.687T=	XP_005267639.1:p.Ala229=
NM_001641.4:c.738T= MANE Select	NP_001632.2:p.Ala246=
NM_001244249.2:c.738T=	NP_001231178.1:p.Ala246=
NM_080648.3:c.738T=	NP_542379.1:p.Ala246=
NM_080649.3:c.738T=	NP_542380.1:p.Ala246=