Canonical Allele Identifier: CA389132352

Gene: APEX1

Linked Data

• gnomAD v4: 14-20457156-G-C
• MyVariant Identifiers: chr14:g.20925315G>C (hg19) ; chr14:g.20457156G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20457156G>C , CM000676.2:g.20457156G>C	GRCh38
NC_000014.8:g.20925315G>C , CM000676.1:g.20925315G>C	GRCh37
NC_000014.7:g.19995155G>C	NCBI36
NG_008718.1:g.7026G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216714.8:c.605G>C MANE Select	ENSP00000216714.3:p.Arg202Pro
ENST00000216714.7:c.605G>C	ENSP00000216714.3:p.Arg202Pro
ENST00000398030.8:c.605G>C	ENSP00000381111.4:p.Arg202Pro
ENST00000438886.1:c.385G>C
ENST00000553555.5:n.1025G>C
ENST00000553681.5:c.605G>C	ENSP00000451327.1:p.Arg202Pro
ENST00000555414.5:c.605G>C	ENSP00000451979.1:p.Arg202Pro
ENST00000555839.5:c.518G>C	ENSP00000452460.1:p.Arg173Pro
ENST00000557054.1:c.*16G>C	ENSP00000452212.2:n.*16G>C
ENST00000557159.5:n.1221G>C
ENST00000557365.1:n.685G>C
NM_001244249.1:c.605G>C	NP_001231178.1:p.Arg202Pro
NM_001641.3:c.605G>C	NP_001632.2:p.Arg202Pro
NM_080648.2:c.605G>C	NP_542379.1:p.Arg202Pro
NM_080649.2:c.605G>C	NP_542380.1:p.Arg202Pro
XM_005267581.3:c.605G>C	XP_005267638.1:p.Arg202Pro
XM_005267582.3:c.554G>C	XP_005267639.1:p.Arg185Pro
NM_001641.4:c.605G>C MANE Select	NP_001632.2:p.Arg202Pro
NM_001244249.2:c.605G>C	NP_001231178.1:p.Arg202Pro
NM_080648.3:c.605G>C	NP_542379.1:p.Arg202Pro
NM_080649.3:c.605G>C	NP_542380.1:p.Arg202Pro