Canonical Allele Identifier: CA485450357

Gene: APEX1

Linked Data

• gnomAD v4: 14-20457310-T-C
• MyVariant Identifiers: chr14:g.20925469T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20457310T>C , CM000676.2:g.20457310T>C	GRCh38
NC_000014.8:g.20925469T>C , CM000676.1:g.20925469T>C	GRCh37
NC_000014.7:g.19995309T>C	NCBI36
NG_008718.1:g.7180T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216714.8:c.759T>C MANE Select	ENSP00000216714.3:p.Phe253=
ENST00000216714.7:c.759T>C	ENSP00000216714.3:p.Phe253=
ENST00000398030.8:c.759T>C	ENSP00000381111.4:p.Phe253=
ENST00000553555.5:n.1179T>C
ENST00000553681.5:c.759T>C	ENSP00000451327.1:p.Phe253=
ENST00000555414.5:c.759T>C	ENSP00000451979.1:p.Phe253=
ENST00000555839.5:c.672T>C	ENSP00000452460.1:p.Phe224=
ENST00000557054.1:c.*170T>C	ENSP00000452212.2:n.*170T>C
ENST00000557159.5:n.1375T>C
NM_001244249.1:c.759T>C	NP_001231178.1:p.Phe253=
NM_001641.3:c.759T>C	NP_001632.2:p.Phe253=
NM_080648.2:c.759T>C	NP_542379.1:p.Phe253=
NM_080649.2:c.759T>C	NP_542380.1:p.Phe253=
XM_005267581.3:c.759T>C	XP_005267638.1:p.Phe253=
XM_005267582.3:c.708T>C	XP_005267639.1:p.Phe236=
NM_001641.4:c.759T>C MANE Select	NP_001632.2:p.Phe253=
NM_001244249.2:c.759T>C	NP_001231178.1:p.Phe253=
NM_080648.3:c.759T>C	NP_542379.1:p.Phe253=
NM_080649.3:c.759T>C	NP_542380.1:p.Phe253=