Canonical Allele Identifier: CA7081647

Gene: APEX1

Linked Data

• dbSNP Id: rs748013536
• ExAC: 14:20925459 C / A
• gnomAD v2: 14-20925459-C-A
• gnomAD v4: 14-20457300-C-A
• MyVariant Identifiers: chr14:g.20925459C>A (hg19) ; chr14:g.20457300C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20457300C>A , CM000676.2:g.20457300C>A	GRCh38
NC_000014.8:g.20925459C>A , CM000676.1:g.20925459C>A	GRCh37
NC_000014.7:g.19995299C>A	NCBI36
NG_008718.1:g.7170C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216714.8:c.749C>A MANE Select	ENSP00000216714.3:p.Ala250Asp
ENST00000216714.7:c.749C>A	ENSP00000216714.3:p.Ala250Asp
ENST00000398030.8:c.749C>A	ENSP00000381111.4:p.Ala250Asp
ENST00000553555.5:n.1169C>A
ENST00000553681.5:c.749C>A	ENSP00000451327.1:p.Ala250Asp
ENST00000555414.5:c.749C>A	ENSP00000451979.1:p.Ala250Asp
ENST00000555839.5:c.662C>A	ENSP00000452460.1:p.Ala221Asp
ENST00000557054.1:c.*160C>A	ENSP00000452212.2:n.*160C>A
ENST00000557159.5:n.1365C>A
ENST00000557365.1:n.829C>A
NM_001244249.1:c.749C>A	NP_001231178.1:p.Ala250Asp
NM_001641.3:c.749C>A	NP_001632.2:p.Ala250Asp
NM_080648.2:c.749C>A	NP_542379.1:p.Ala250Asp
NM_080649.2:c.749C>A	NP_542380.1:p.Ala250Asp
XM_005267581.3:c.749C>A	XP_005267638.1:p.Ala250Asp
XM_005267582.3:c.698C>A	XP_005267639.1:p.Ala233Asp
NM_001641.4:c.749C>A MANE Select	NP_001632.2:p.Ala250Asp
NM_001244249.2:c.749C>A	NP_001231178.1:p.Ala250Asp
NM_080648.3:c.749C>A	NP_542379.1:p.Ala250Asp
NM_080649.3:c.749C>A	NP_542380.1:p.Ala250Asp