Canonical Allele Identifier: CA389130717

Gene: APEX1

Linked Data

• dbSNP Id: rs200702900
• gnomAD v2: 14-20924909-A-C
• MyVariant Identifiers: chr14:g.20924909A>C (hg19) ; chr14:g.20456750A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20456750A>C , CM000676.2:g.20456750A>C	GRCh38
NC_000014.8:g.20924909A>C , CM000676.1:g.20924909A>C	GRCh37
NC_000014.7:g.19994749A>C	NCBI36
NG_008718.1:g.6620A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216714.8:c.329A>C MANE Select	ENSP00000216714.3:p.Glu110Ala
ENST00000216714.7:c.329A>C	ENSP00000216714.3:p.Glu110Ala
ENST00000398030.8:c.329A>C	ENSP00000381111.4:p.Glu110Ala
ENST00000438886.1:c.178A>C
ENST00000553555.5:n.749A>C
ENST00000553681.5:c.329A>C	ENSP00000451327.1:p.Glu110Ala
ENST00000554813.5:n.395A>C
ENST00000555306.5:n.776A>C
ENST00000555414.5:c.329A>C	ENSP00000451979.1:p.Glu110Ala
ENST00000555839.5:c.329A>C	ENSP00000452460.1:p.Glu110Ala
ENST00000556054.5:c.329A>C	ENSP00000451170.1:p.Glu110Ala
ENST00000557054.1:c.28-373A>C	ENSP00000452212.2:n.28-373A>C
ENST00000557150.5:c.278A>C	ENSP00000452418.1:p.Glu93Ala
ENST00000557159.5:n.945A>C
ENST00000557344.5:c.329A>C	ENSP00000452137.1:p.Glu110Ala
ENST00000557365.1:n.409A>C
ENST00000557592.5:c.278A>C	ENSP00000451060.1:p.Glu93Ala
NM_001244249.1:c.329A>C	NP_001231178.1:p.Glu110Ala
NM_001641.3:c.329A>C	NP_001632.2:p.Glu110Ala
NM_080648.2:c.329A>C	NP_542379.1:p.Glu110Ala
NM_080649.2:c.329A>C	NP_542380.1:p.Glu110Ala
XM_005267581.3:c.329A>C	XP_005267638.1:p.Glu110Ala
XM_005267582.3:c.278A>C	XP_005267639.1:p.Glu93Ala
NM_001641.4:c.329A>C MANE Select	NP_001632.2:p.Glu110Ala
NM_001244249.2:c.329A>C	NP_001231178.1:p.Glu110Ala
NM_080648.3:c.329A>C	NP_542379.1:p.Glu110Ala
NM_080649.3:c.329A>C	NP_542380.1:p.Glu110Ala