Canonical Allele Identifier: CA7081568

Gene: APEX1

Linked Data

• dbSNP Id: rs560607339
• ExAC: 14:20925159 A / G
• gnomAD v2: 14-20925159-A-G
• gnomAD v3: 14-20457000-A-G
• gnomAD v4: 14-20457000-A-G
• MyVariant Identifiers: chr14:g.20925159A>G (hg19) ; chr14:g.20457000A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20457000A>G , CM000676.2:g.20457000A>G	GRCh38
NC_000014.8:g.20925159A>G , CM000676.1:g.20925159A>G	GRCh37
NC_000014.7:g.19994999A>G	NCBI36
NG_008718.1:g.6870A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000216714.8:c.449A>G MANE Select	ENSP00000216714.3:p.Glu150Gly
ENST00000216714.7:c.449A>G	ENSP00000216714.3:p.Glu150Gly
ENST00000398030.8:c.449A>G	ENSP00000381111.4:p.Glu150Gly
ENST00000438886.1:c.289-60A>G
ENST00000553555.5:n.869A>G
ENST00000553681.5:c.449A>G	ENSP00000451327.1:p.Glu150Gly
ENST00000554813.5:n.515A>G
ENST00000555306.5:n.896A>G
ENST00000555414.5:c.449A>G	ENSP00000451979.1:p.Glu150Gly
ENST00000555839.5:c.440-78A>G	ENSP00000452460.1:n.440-78A>G
ENST00000556054.5:c.449A>G	ENSP00000451170.1:p.Glu150Gly
ENST00000557054.1:c.28-123A>G	ENSP00000452212.2:n.28-123A>G
ENST00000557150.5:c.398A>G	ENSP00000452418.1:p.Glu133Gly
ENST00000557159.5:n.1065A>G
ENST00000557365.1:n.529A>G
ENST00000557592.5:c.398A>G	ENSP00000451060.1:p.Glu133Gly
NM_001244249.1:c.449A>G	NP_001231178.1:p.Glu150Gly
NM_001641.3:c.449A>G	NP_001632.2:p.Glu150Gly
NM_080648.2:c.449A>G	NP_542379.1:p.Glu150Gly
NM_080649.2:c.449A>G	NP_542380.1:p.Glu150Gly
XM_005267581.3:c.449A>G	XP_005267638.1:p.Glu150Gly
XM_005267582.3:c.398A>G	XP_005267639.1:p.Glu133Gly
NM_001641.4:c.449A>G MANE Select	NP_001632.2:p.Glu150Gly
NM_001244249.2:c.449A>G	NP_001231178.1:p.Glu150Gly
NM_080648.3:c.449A>G	NP_542379.1:p.Glu150Gly
NM_080649.3:c.449A>G	NP_542380.1:p.Glu150Gly