Canonical Allele Identifier: CA389133200

Gene: APEX1

Linked Data

• gnomAD v4: 14-20457267-G-C
• MyVariant Identifiers: chr14:g.20925426G>C (hg19) ; chr14:g.20457267G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20457267G>C , CM000676.2:g.20457267G>C	GRCh38
NC_000014.8:g.20925426G>C , CM000676.1:g.20925426G>C	GRCh37
NC_000014.7:g.19995266G>C	NCBI36
NG_008718.1:g.7137G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216714.8:c.716G>C MANE Select	ENSP00000216714.3:p.Gly239Ala
ENST00000216714.7:c.716G>C	ENSP00000216714.3:p.Gly239Ala
ENST00000398030.8:c.716G>C	ENSP00000381111.4:p.Gly239Ala
ENST00000553555.5:n.1136G>C
ENST00000553681.5:c.716G>C	ENSP00000451327.1:p.Gly239Ala
ENST00000555414.5:c.716G>C	ENSP00000451979.1:p.Gly239Ala
ENST00000555839.5:c.629G>C	ENSP00000452460.1:p.Gly210Ala
ENST00000557054.1:c.*127G>C	ENSP00000452212.2:n.*127G>C
ENST00000557159.5:n.1332G>C
ENST00000557365.1:n.796G>C
NM_001244249.1:c.716G>C	NP_001231178.1:p.Gly239Ala
NM_001641.3:c.716G>C	NP_001632.2:p.Gly239Ala
NM_080648.2:c.716G>C	NP_542379.1:p.Gly239Ala
NM_080649.2:c.716G>C	NP_542380.1:p.Gly239Ala
XM_005267581.3:c.716G>C	XP_005267638.1:p.Gly239Ala
XM_005267582.3:c.665G>C	XP_005267639.1:p.Gly222Ala
NM_001641.4:c.716G>C MANE Select	NP_001632.2:p.Gly239Ala
NM_001244249.2:c.716G>C	NP_001231178.1:p.Gly239Ala
NM_080648.3:c.716G>C	NP_542379.1:p.Gly239Ala
NM_080649.3:c.716G>C	NP_542380.1:p.Gly239Ala