Canonical Allele Identifier: CA389132705

Gene: APEX1

Linked Data

• gnomAD v4: 14-20457202-A-C
• MyVariant Identifiers: chr14:g.20925361A>C (hg19) ; chr14:g.20457202A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20457202A>C , CM000676.2:g.20457202A>C	GRCh38
NC_000014.8:g.20925361A>C , CM000676.1:g.20925361A>C	GRCh37
NC_000014.7:g.19995201A>C	NCBI36
NG_008718.1:g.7072A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216714.8:c.651A>C MANE Select	ENSP00000216714.3:p.Glu217Asp
ENST00000216714.7:c.651A>C	ENSP00000216714.3:p.Glu217Asp
ENST00000398030.8:c.651A>C	ENSP00000381111.4:p.Glu217Asp
ENST00000438886.1:c.431A>C
ENST00000553555.5:n.1071A>C
ENST00000553681.5:c.651A>C	ENSP00000451327.1:p.Glu217Asp
ENST00000555414.5:c.651A>C	ENSP00000451979.1:p.Glu217Asp
ENST00000555839.5:c.564A>C	ENSP00000452460.1:p.Glu188Asp
ENST00000557054.1:c.*62A>C	ENSP00000452212.2:n.*62A>C
ENST00000557159.5:n.1267A>C
ENST00000557365.1:n.731A>C
NM_001244249.1:c.651A>C	NP_001231178.1:p.Glu217Asp
NM_001641.3:c.651A>C	NP_001632.2:p.Glu217Asp
NM_080648.2:c.651A>C	NP_542379.1:p.Glu217Asp
NM_080649.2:c.651A>C	NP_542380.1:p.Glu217Asp
XM_005267581.3:c.651A>C	XP_005267638.1:p.Glu217Asp
XM_005267582.3:c.600A>C	XP_005267639.1:p.Glu200Asp
NM_001641.4:c.651A>C MANE Select	NP_001632.2:p.Glu217Asp
NM_001244249.2:c.651A>C	NP_001231178.1:p.Glu217Asp
NM_080648.3:c.651A>C	NP_542379.1:p.Glu217Asp
NM_080649.3:c.651A>C	NP_542380.1:p.Glu217Asp