Canonical Allele Identifier: CA389132837

Gene: APEX1

Linked Data

• gnomAD v4: 14-20457224-G-A
• MyVariant Identifiers: chr14:g.20925383G>A (hg19) ; chr14:g.20457224G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20457224G>A , CM000676.2:g.20457224G>A	GRCh38
NC_000014.8:g.20925383G>A , CM000676.1:g.20925383G>A	GRCh37
NC_000014.7:g.19995223G>A	NCBI36
NG_008718.1:g.7094G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216714.8:c.673G>A MANE Select	ENSP00000216714.3:p.Gly225Arg
ENST00000216714.7:c.673G>A	ENSP00000216714.3:p.Gly225Arg
ENST00000398030.8:c.673G>A	ENSP00000381111.4:p.Gly225Arg
ENST00000553555.5:n.1093G>A
ENST00000553681.5:c.673G>A	ENSP00000451327.1:p.Gly225Arg
ENST00000555414.5:c.673G>A	ENSP00000451979.1:p.Gly225Arg
ENST00000555839.5:c.586G>A	ENSP00000452460.1:p.Gly196Arg
ENST00000557054.1:c.*84G>A	ENSP00000452212.2:n.*84G>A
ENST00000557159.5:n.1289G>A
ENST00000557365.1:n.753G>A
NM_001244249.1:c.673G>A	NP_001231178.1:p.Gly225Arg
NM_001641.3:c.673G>A	NP_001632.2:p.Gly225Arg
NM_080648.2:c.673G>A	NP_542379.1:p.Gly225Arg
NM_080649.2:c.673G>A	NP_542380.1:p.Gly225Arg
XM_005267581.3:c.673G>A	XP_005267638.1:p.Gly225Arg
XM_005267582.3:c.622G>A	XP_005267639.1:p.Gly208Arg
NM_001641.4:c.673G>A MANE Select	NP_001632.2:p.Gly225Arg
NM_001244249.2:c.673G>A	NP_001231178.1:p.Gly225Arg
NM_080648.3:c.673G>A	NP_542379.1:p.Gly225Arg
NM_080649.3:c.673G>A	NP_542380.1:p.Gly225Arg