Canonical Allele Identifier: CA389132150

Gene: APEX1

Linked Data

• gnomAD v2: 14-20925278-G-A
• gnomAD v4: 14-20457119-G-A
• MyVariant Identifiers: chr14:g.20925278G>A (hg19) ; chr14:g.20457119G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20457119G>A , CM000676.2:g.20457119G>A	GRCh38
NC_000014.8:g.20925278G>A , CM000676.1:g.20925278G>A	GRCh37
NC_000014.7:g.19995118G>A	NCBI36
NG_008718.1:g.6989G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216714.8:c.568G>A MANE Select	ENSP00000216714.3:p.Glu190Lys
ENST00000216714.7:c.568G>A	ENSP00000216714.3:p.Glu190Lys
ENST00000398030.8:c.568G>A	ENSP00000381111.4:p.Glu190Lys
ENST00000438886.1:c.348G>A
ENST00000553555.5:n.988G>A
ENST00000553681.5:c.568G>A	ENSP00000451327.1:p.Glu190Lys
ENST00000554813.5:n.634G>A
ENST00000555414.5:c.568G>A	ENSP00000451979.1:p.Glu190Lys
ENST00000555839.5:c.481G>A	ENSP00000452460.1:p.Glu161Lys
ENST00000557054.1:c.28-4G>A	ENSP00000452212.2:n.28-4G>A
ENST00000557159.5:n.1184G>A
ENST00000557365.1:n.648G>A
ENST00000557592.5:c.517G>A
NM_001244249.1:c.568G>A	NP_001231178.1:p.Glu190Lys
NM_001641.3:c.568G>A	NP_001632.2:p.Glu190Lys
NM_080648.2:c.568G>A	NP_542379.1:p.Glu190Lys
NM_080649.2:c.568G>A	NP_542380.1:p.Glu190Lys
XM_005267581.3:c.568G>A	XP_005267638.1:p.Glu190Lys
XM_005267582.3:c.517G>A	XP_005267639.1:p.Glu173Lys
NM_001641.4:c.568G>A MANE Select	NP_001632.2:p.Glu190Lys
NM_001244249.2:c.568G>A	NP_001231178.1:p.Glu190Lys
NM_080648.3:c.568G>A	NP_542379.1:p.Glu190Lys
NM_080649.3:c.568G>A	NP_542380.1:p.Glu190Lys