Canonical Allele Identifier: CA485450068

Gene: APEX1

Linked Data

• dbSNP Id: rs765234188
• gnomAD v2: 14-20925263-C-A
• gnomAD v4: 14-20457104-C-A
• MyVariant Identifiers: chr14:g.20925263C>A (hg19) ; chr14:g.20457104C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20457104C>A , CM000676.2:g.20457104C>A	GRCh38
NC_000014.8:g.20925263C>A , CM000676.1:g.20925263C>A	GRCh37
NC_000014.7:g.19995103C>A	NCBI36
NG_008718.1:g.6974C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216714.8:c.553C>A MANE Select	ENSP00000216714.3:p.Arg185=
ENST00000216714.7:c.553C>A	ENSP00000216714.3:p.Arg185=
ENST00000398030.8:c.553C>A	ENSP00000381111.4:p.Arg185=
ENST00000438886.1:c.333C>A
ENST00000553555.5:n.973C>A
ENST00000553681.5:c.553C>A	ENSP00000451327.1:p.Arg185=
ENST00000554813.5:n.619C>A
ENST00000555414.5:c.553C>A	ENSP00000451979.1:p.Arg185=
ENST00000555839.5:c.466C>A	ENSP00000452460.1:p.Arg156=
ENST00000557054.1:c.28-19C>A	ENSP00000452212.2:n.28-19C>A
ENST00000557159.5:n.1169C>A
ENST00000557365.1:n.633C>A
ENST00000557592.5:c.502C>A	ENSP00000451060.1:p.Arg168=
NM_001244249.1:c.553C>A	NP_001231178.1:p.Arg185=
NM_001641.3:c.553C>A	NP_001632.2:p.Arg185=
NM_080648.2:c.553C>A	NP_542379.1:p.Arg185=
NM_080649.2:c.553C>A	NP_542380.1:p.Arg185=
XM_005267581.3:c.553C>A	XP_005267638.1:p.Arg185=
XM_005267582.3:c.502C>A	XP_005267639.1:p.Arg168=
NM_001641.4:c.553C>A MANE Select	NP_001632.2:p.Arg185=
NM_001244249.2:c.553C>A	NP_001231178.1:p.Arg185=
NM_080648.3:c.553C>A	NP_542379.1:p.Arg185=
NM_080649.3:c.553C>A	NP_542380.1:p.Arg185=