Canonical Allele Identifier: CA389131428

Gene: APEX1

Linked Data

• gnomAD v4: 14-20456999-G-A
• MyVariant Identifiers: chr14:g.20925158G>A (hg19) ; chr14:g.20456999G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20456999G>A , CM000676.2:g.20456999G>A	GRCh38
NC_000014.8:g.20925158G>A , CM000676.1:g.20925158G>A	GRCh37
NC_000014.7:g.19994998G>A	NCBI36
NG_008718.1:g.6869G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000216714.8:c.448G>A MANE Select	ENSP00000216714.3:p.Glu150Lys
ENST00000216714.7:c.448G>A	ENSP00000216714.3:p.Glu150Lys
ENST00000398030.8:c.448G>A	ENSP00000381111.4:p.Glu150Lys
ENST00000438886.1:c.289-61G>A
ENST00000553555.5:n.868G>A
ENST00000553681.5:c.448G>A	ENSP00000451327.1:p.Glu150Lys
ENST00000554813.5:n.514G>A
ENST00000555306.5:n.895G>A
ENST00000555414.5:c.448G>A	ENSP00000451979.1:p.Glu150Lys
ENST00000555839.5:c.440-79G>A	ENSP00000452460.1:n.440-79G>A
ENST00000556054.5:c.448G>A	ENSP00000451170.1:p.Glu150Lys
ENST00000557054.1:c.28-124G>A	ENSP00000452212.2:n.28-124G>A
ENST00000557150.5:c.397G>A	ENSP00000452418.1:p.Glu133Lys
ENST00000557159.5:n.1064G>A
ENST00000557365.1:n.528G>A
ENST00000557592.5:c.397G>A	ENSP00000451060.1:p.Glu133Lys
NM_001244249.1:c.448G>A	NP_001231178.1:p.Glu150Lys
NM_001641.3:c.448G>A	NP_001632.2:p.Glu150Lys
NM_080648.2:c.448G>A	NP_542379.1:p.Glu150Lys
NM_080649.2:c.448G>A	NP_542380.1:p.Glu150Lys
XM_005267581.3:c.448G>A	XP_005267638.1:p.Glu150Lys
XM_005267582.3:c.397G>A	XP_005267639.1:p.Glu133Lys
NM_001641.4:c.448G>A MANE Select	NP_001632.2:p.Glu150Lys
NM_001244249.2:c.448G>A	NP_001231178.1:p.Glu150Lys
NM_080648.3:c.448G>A	NP_542379.1:p.Glu150Lys
NM_080649.3:c.448G>A	NP_542380.1:p.Glu150Lys