Canonical Allele Identifier: CA612862160

Gene: APEX1

Linked Data

• dbSNP Id: rs1459395622
• gnomAD v2: 14-20925088-A-C
• MyVariant Identifiers: chr14:g.20925088A>C (hg19) ; chr14:g.20456929A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20456929A>C , CM000676.2:g.20456929A>C	GRCh38
NC_000014.8:g.20925088A>C , CM000676.1:g.20925088A>C	GRCh37
NC_000014.7:g.19994928A>C	NCBI36
NG_008718.1:g.6799A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216714.8:c.440-62A>C MANE Select	ENSP00000216714.3:n.440-62A>C
ENST00000216714.7:c.440-62A>C	ENSP00000216714.3:n.440-62A>C
ENST00000398030.8:c.440-62A>C	ENSP00000381111.4:n.440-62A>C
ENST00000438886.1:c.288+69A>C
ENST00000553555.5:n.860-62A>C
ENST00000553681.5:c.440-62A>C	ENSP00000451327.1:n.440-62A>C
ENST00000554813.5:n.506-62A>C
ENST00000555306.5:n.887-62A>C
ENST00000555414.5:c.440-62A>C	ENSP00000451979.1:n.440-62A>C
ENST00000555839.5:c.439+69A>C	ENSP00000452460.1:n.439+69A>C
ENST00000556054.5:c.440-62A>C	ENSP00000451170.1:n.440-62A>C
ENST00000557054.1:c.28-194A>C	ENSP00000452212.2:n.28-194A>C
ENST00000557150.5:c.389-62A>C	ENSP00000452418.1:n.389-62A>C
ENST00000557159.5:n.1056-62A>C
ENST00000557365.1:n.520-62A>C
ENST00000557592.5:c.389-62A>C	ENSP00000451060.1:n.389-62A>C
NM_001244249.1:c.440-62A>C	NP_001231178.1:n.440-62A>C
NM_001641.3:c.440-62A>C	NP_001632.2:n.440-62A>C
NM_080648.2:c.440-62A>C	NP_542379.1:n.440-62A>C
NM_080649.2:c.440-62A>C	NP_542380.1:n.440-62A>C
XM_005267581.3:c.440-62A>C	XP_005267638.1:n.440-62A>C
XM_005267582.3:c.389-62A>C	XP_005267639.1:n.389-62A>C
NM_001641.4:c.440-62A>C MANE Select	NP_001632.2:n.440-62A>C
NM_001244249.2:c.440-62A>C	NP_001231178.1:n.440-62A>C
NM_080648.3:c.440-62A>C	NP_542379.1:n.440-62A>C
NM_080649.3:c.440-62A>C	NP_542380.1:n.440-62A>C