Canonical Allele Identifier: CA2122042035

Gene: APEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20457241T= , CM000676.2:g.20457241T=	GRCh38
NC_000014.8:g.20925400T= , CM000676.1:g.20925400T=	GRCh37
NC_000014.7:g.19995240T=	NCBI36
NG_008718.1:g.7111T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216714.8:c.690T= MANE Select	ENSP00000216714.3:p.Ala230=
ENST00000216714.7:c.690T=	ENSP00000216714.3:p.Ala230=
ENST00000398030.8:c.690T=	ENSP00000381111.4:p.Ala230=
ENST00000553555.5:n.1110T=
ENST00000553681.5:c.690T=	ENSP00000451327.1:p.Ala230=
ENST00000555414.5:c.690T=	ENSP00000451979.1:p.Ala230=
ENST00000555839.5:c.603T=	ENSP00000452460.1:p.Ala201=
ENST00000557054.1:c.*101T=	ENSP00000452212.2:n.*101T=
ENST00000557159.5:n.1306T=
ENST00000557365.1:n.770T=
NM_001244249.1:c.690T=	NP_001231178.1:p.Ala230=
NM_001641.3:c.690T=	NP_001632.2:p.Ala230=
NM_080648.2:c.690T=	NP_542379.1:p.Ala230=
NM_080649.2:c.690T=	NP_542380.1:p.Ala230=
XM_005267581.3:c.690T=	XP_005267638.1:p.Ala230=
XM_005267582.3:c.639T=	XP_005267639.1:p.Ala213=
NM_001641.4:c.690T= MANE Select	NP_001632.2:p.Ala230=
NM_001244249.2:c.690T=	NP_001231178.1:p.Ala230=
NM_080648.3:c.690T=	NP_542379.1:p.Ala230=
NM_080649.3:c.690T=	NP_542380.1:p.Ala230=