Canonical Allele Identifier: CA389133486

Gene: APEX1

Linked Data

• MyVariant Identifiers: chr14:g.20925468T>G (hg19) ; chr14:g.20457309T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20457309T>G , CM000676.2:g.20457309T>G	GRCh38
NC_000014.8:g.20925468T>G , CM000676.1:g.20925468T>G	GRCh37
NC_000014.7:g.19995308T>G	NCBI36
NG_008718.1:g.7179T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216714.8:c.758T>G MANE Select	ENSP00000216714.3:p.Phe253Cys
ENST00000216714.7:c.758T>G	ENSP00000216714.3:p.Phe253Cys
ENST00000398030.8:c.758T>G	ENSP00000381111.4:p.Phe253Cys
ENST00000553555.5:n.1178T>G
ENST00000553681.5:c.758T>G	ENSP00000451327.1:p.Phe253Cys
ENST00000555414.5:c.758T>G	ENSP00000451979.1:p.Phe253Cys
ENST00000555839.5:c.671T>G	ENSP00000452460.1:p.Phe224Cys
ENST00000557054.1:c.*169T>G	ENSP00000452212.2:n.*169T>G
ENST00000557159.5:n.1374T>G
NM_001244249.1:c.758T>G	NP_001231178.1:p.Phe253Cys
NM_001641.3:c.758T>G	NP_001632.2:p.Phe253Cys
NM_080648.2:c.758T>G	NP_542379.1:p.Phe253Cys
NM_080649.2:c.758T>G	NP_542380.1:p.Phe253Cys
XM_005267581.3:c.758T>G	XP_005267638.1:p.Phe253Cys
XM_005267582.3:c.707T>G	XP_005267639.1:p.Phe236Cys
NM_001641.4:c.758T>G MANE Select	NP_001632.2:p.Phe253Cys
NM_001244249.2:c.758T>G	NP_001231178.1:p.Phe253Cys
NM_080648.3:c.758T>G	NP_542379.1:p.Phe253Cys
NM_080649.3:c.758T>G	NP_542380.1:p.Phe253Cys