Canonical Allele Identifier: CA257407563

Gene: APEX1

Linked Data

• dbSNP Id: rs985325188
• gnomAD v4: 14-20456806-A-C
• MyVariant Identifiers: chr14:g.20924965A>C (hg19) ; chr14:g.20456806A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20456806A>C , CM000676.2:g.20456806A>C	GRCh38
NC_000014.8:g.20924965A>C , CM000676.1:g.20924965A>C	GRCh37
NC_000014.7:g.19994805A>C	NCBI36
NG_008718.1:g.6676A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216714.8:c.385A>C MANE Select	ENSP00000216714.3:p.Ser129Arg
ENST00000216714.7:c.385A>C	ENSP00000216714.3:p.Ser129Arg
ENST00000398030.8:c.385A>C	ENSP00000381111.4:p.Ser129Arg
ENST00000438886.1:c.234A>C
ENST00000553555.5:n.805A>C
ENST00000553681.5:c.385A>C	ENSP00000451327.1:p.Ser129Arg
ENST00000554813.5:n.451A>C
ENST00000555306.5:n.832A>C
ENST00000555414.5:c.385A>C	ENSP00000451979.1:p.Ser129Arg
ENST00000555839.5:c.385A>C	ENSP00000452460.1:p.Ser129Arg
ENST00000556054.5:c.385A>C	ENSP00000451170.1:p.Ser129Arg
ENST00000557054.1:c.28-317A>C	ENSP00000452212.2:n.28-317A>C
ENST00000557150.5:c.334A>C	ENSP00000452418.1:p.Ser112Arg
ENST00000557159.5:n.1001A>C
ENST00000557344.5:c.385A>C	ENSP00000452137.1:p.Ser129Arg
ENST00000557365.1:n.465A>C
ENST00000557592.5:c.334A>C	ENSP00000451060.1:p.Ser112Arg
NM_001244249.1:c.385A>C	NP_001231178.1:p.Ser129Arg
NM_001641.3:c.385A>C	NP_001632.2:p.Ser129Arg
NM_080648.2:c.385A>C	NP_542379.1:p.Ser129Arg
NM_080649.2:c.385A>C	NP_542380.1:p.Ser129Arg
XM_005267581.3:c.385A>C	XP_005267638.1:p.Ser129Arg
XM_005267582.3:c.334A>C	XP_005267639.1:p.Ser112Arg
NM_001641.4:c.385A>C MANE Select	NP_001632.2:p.Ser129Arg
NM_001244249.2:c.385A>C	NP_001231178.1:p.Ser129Arg
NM_080648.3:c.385A>C	NP_542379.1:p.Ser129Arg
NM_080649.3:c.385A>C	NP_542380.1:p.Ser129Arg