Canonical Allele Identifier: CA485449980

Gene: APEX1

Linked Data

• MyVariant Identifiers: chr14:g.20925397T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20457238T>C , CM000676.2:g.20457238T>C	GRCh38
NC_000014.8:g.20925397T>C , CM000676.1:g.20925397T>C	GRCh37
NC_000014.7:g.19995237T>C	NCBI36
NG_008718.1:g.7108T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216714.8:c.687T>C MANE Select	ENSP00000216714.3:p.Asn229=
ENST00000216714.7:c.687T>C	ENSP00000216714.3:p.Asn229=
ENST00000398030.8:c.687T>C	ENSP00000381111.4:p.Asn229=
ENST00000553555.5:n.1107T>C
ENST00000553681.5:c.687T>C	ENSP00000451327.1:p.Asn229=
ENST00000555414.5:c.687T>C	ENSP00000451979.1:p.Asn229=
ENST00000555839.5:c.600T>C	ENSP00000452460.1:p.Asn200=
ENST00000557054.1:c.*98T>C	ENSP00000452212.2:n.*98T>C
ENST00000557159.5:n.1303T>C
ENST00000557365.1:n.767T>C
NM_001244249.1:c.687T>C	NP_001231178.1:p.Asn229=
NM_001641.3:c.687T>C	NP_001632.2:p.Asn229=
NM_080648.2:c.687T>C	NP_542379.1:p.Asn229=
NM_080649.2:c.687T>C	NP_542380.1:p.Asn229=
XM_005267581.3:c.687T>C	XP_005267638.1:p.Asn229=
XM_005267582.3:c.636T>C	XP_005267639.1:p.Asn212=
NM_001641.4:c.687T>C MANE Select	NP_001632.2:p.Asn229=
NM_001244249.2:c.687T>C	NP_001231178.1:p.Asn229=
NM_080648.3:c.687T>C	NP_542379.1:p.Asn229=
NM_080649.3:c.687T>C	NP_542380.1:p.Asn229=