Canonical Allele Identifier: CA485450347

Gene: APEX1

Linked Data

• gnomAD v4: 14-20457307-C-T
• MyVariant Identifiers: chr14:g.20925466C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20457307C>T , CM000676.2:g.20457307C>T	GRCh38
NC_000014.8:g.20925466C>T , CM000676.1:g.20925466C>T	GRCh37
NC_000014.7:g.19995306C>T	NCBI36
NG_008718.1:g.7177C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216714.8:c.756C>T MANE Select	ENSP00000216714.3:p.Ser252=
ENST00000216714.7:c.756C>T	ENSP00000216714.3:p.Ser252=
ENST00000398030.8:c.756C>T	ENSP00000381111.4:p.Ser252=
ENST00000553555.5:n.1176C>T
ENST00000553681.5:c.756C>T	ENSP00000451327.1:p.Ser252=
ENST00000555414.5:c.756C>T	ENSP00000451979.1:p.Ser252=
ENST00000555839.5:c.669C>T	ENSP00000452460.1:p.Ser223=
ENST00000557054.1:c.*167C>T	ENSP00000452212.2:n.*167C>T
ENST00000557159.5:n.1372C>T
NM_001244249.1:c.756C>T	NP_001231178.1:p.Ser252=
NM_001641.3:c.756C>T	NP_001632.2:p.Ser252=
NM_080648.2:c.756C>T	NP_542379.1:p.Ser252=
NM_080649.2:c.756C>T	NP_542380.1:p.Ser252=
XM_005267581.3:c.756C>T	XP_005267638.1:p.Ser252=
XM_005267582.3:c.705C>T	XP_005267639.1:p.Ser235=
NM_001641.4:c.756C>T MANE Select	NP_001632.2:p.Ser252=
NM_001244249.2:c.756C>T	NP_001231178.1:p.Ser252=
NM_080648.3:c.756C>T	NP_542379.1:p.Ser252=
NM_080649.3:c.756C>T	NP_542380.1:p.Ser252=