Canonical Allele Identifier: CA2122041552

Gene: APEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20457024T= , CM000676.2:g.20457024T=	GRCh38
NC_000014.8:g.20925183T= , CM000676.1:g.20925183T=	GRCh37
NC_000014.7:g.19995023T=	NCBI36
NG_008718.1:g.6894T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216714.8:c.473T= MANE Select	ENSP00000216714.3:p.Ile158=
ENST00000216714.7:c.473T=	ENSP00000216714.3:p.Ile158=
ENST00000398030.8:c.473T=	ENSP00000381111.4:p.Ile158=
ENST00000438886.1:c.289-36T=
ENST00000553555.5:n.893T=
ENST00000553681.5:c.473T=	ENSP00000451327.1:p.Ile158=
ENST00000554813.5:n.539T=
ENST00000555414.5:c.473T=	ENSP00000451979.1:p.Ile158=
ENST00000555839.5:c.440-54T=	ENSP00000452460.1:n.440-54T=
ENST00000556054.5:c.473T=	ENSP00000451170.1:p.Ile158=
ENST00000557054.1:c.28-99T=	ENSP00000452212.2:n.28-99T=
ENST00000557150.5:c.422T=	ENSP00000452418.1:p.Ile141=
ENST00000557159.5:n.1089T=
ENST00000557365.1:n.553T=
ENST00000557592.5:c.422T=	ENSP00000451060.1:p.Ile141=
NM_001244249.1:c.473T=	NP_001231178.1:p.Ile158=
NM_001641.3:c.473T=	NP_001632.2:p.Ile158=
NM_080648.2:c.473T=	NP_542379.1:p.Ile158=
NM_080649.2:c.473T=	NP_542380.1:p.Ile158=
XM_005267581.3:c.473T=	XP_005267638.1:p.Ile158=
XM_005267582.3:c.422T=	XP_005267639.1:p.Ile141=
NM_001641.4:c.473T= MANE Select	NP_001632.2:p.Ile158=
NM_001244249.2:c.473T=	NP_001231178.1:p.Ile158=
NM_080648.3:c.473T=	NP_542379.1:p.Ile158=
NM_080649.3:c.473T=	NP_542380.1:p.Ile158=