Canonical Allele Identifier: CA7081609

Gene: APEX1

Linked Data

• dbSNP Id: rs531803725
• ExAC: 14:20925293 T / A
• gnomAD v2: 14-20925293-T-A
• gnomAD v3: 14-20457134-T-A
• gnomAD v4: 14-20457134-T-A
• MyVariant Identifiers: chr14:g.20925293T>A (hg19) ; chr14:g.20457134T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20457134T>A , CM000676.2:g.20457134T>A	GRCh38
NC_000014.8:g.20925293T>A , CM000676.1:g.20925293T>A	GRCh37
NC_000014.7:g.19995133T>A	NCBI36
NG_008718.1:g.7004T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216714.8:c.583T>A MANE Select	ENSP00000216714.3:p.Phe195Ile
ENST00000216714.7:c.583T>A	ENSP00000216714.3:p.Phe195Ile
ENST00000398030.8:c.583T>A	ENSP00000381111.4:p.Phe195Ile
ENST00000438886.1:c.363T>A
ENST00000553555.5:n.1003T>A
ENST00000553681.5:c.583T>A	ENSP00000451327.1:p.Phe195Ile
ENST00000554813.5:n.649T>A
ENST00000555414.5:c.583T>A	ENSP00000451979.1:p.Phe195Ile
ENST00000555839.5:c.496T>A	ENSP00000452460.1:p.Phe166Ile
ENST00000557054.1:c.39T>A	ENSP00000452212.2:p.Ser13Arg
ENST00000557159.5:n.1199T>A
ENST00000557365.1:n.663T>A
NM_001244249.1:c.583T>A	NP_001231178.1:p.Phe195Ile
NM_001641.3:c.583T>A	NP_001632.2:p.Phe195Ile
NM_080648.2:c.583T>A	NP_542379.1:p.Phe195Ile
NM_080649.2:c.583T>A	NP_542380.1:p.Phe195Ile
XM_005267581.3:c.583T>A	XP_005267638.1:p.Phe195Ile
XM_005267582.3:c.532T>A	XP_005267639.1:p.Phe178Ile
NM_001641.4:c.583T>A MANE Select	NP_001632.2:p.Phe195Ile
NM_001244249.2:c.583T>A	NP_001231178.1:p.Phe195Ile
NM_080648.3:c.583T>A	NP_542379.1:p.Phe195Ile
NM_080649.3:c.583T>A	NP_542380.1:p.Phe195Ile