Canonical Allele Identifier: CA389131954

Gene: APEX1

Linked Data

• gnomAD v4: 14-20457075-C-T
• MyVariant Identifiers: chr14:g.20925234C>T (hg19) ; chr14:g.20457075C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20457075C>T , CM000676.2:g.20457075C>T	GRCh38
NC_000014.8:g.20925234C>T , CM000676.1:g.20925234C>T	GRCh37
NC_000014.7:g.19995074C>T	NCBI36
NG_008718.1:g.6945C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216714.8:c.524C>T MANE Select	ENSP00000216714.3:p.Ala175Val
ENST00000216714.7:c.524C>T	ENSP00000216714.3:p.Ala175Val
ENST00000398030.8:c.524C>T	ENSP00000381111.4:p.Ala175Val
ENST00000438886.1:c.304C>T
ENST00000553555.5:n.944C>T
ENST00000553681.5:c.524C>T	ENSP00000451327.1:p.Ala175Val
ENST00000554813.5:n.590C>T
ENST00000555414.5:c.524C>T	ENSP00000451979.1:p.Ala175Val
ENST00000555839.5:c.440-3C>T	ENSP00000452460.1:n.440-3C>T
ENST00000557054.1:c.28-48C>T	ENSP00000452212.2:n.28-48C>T
ENST00000557150.5:c.473C>T	ENSP00000452418.1:p.Ala158Val
ENST00000557159.5:n.1140C>T
ENST00000557365.1:n.604C>T
ENST00000557592.5:c.473C>T	ENSP00000451060.1:p.Ala158Val
NM_001244249.1:c.524C>T	NP_001231178.1:p.Ala175Val
NM_001641.3:c.524C>T	NP_001632.2:p.Ala175Val
NM_080648.2:c.524C>T	NP_542379.1:p.Ala175Val
NM_080649.2:c.524C>T	NP_542380.1:p.Ala175Val
XM_005267581.3:c.524C>T	XP_005267638.1:p.Ala175Val
XM_005267582.3:c.473C>T	XP_005267639.1:p.Ala158Val
NM_001641.4:c.524C>T MANE Select	NP_001632.2:p.Ala175Val
NM_001244249.2:c.524C>T	NP_001231178.1:p.Ala175Val
NM_080648.3:c.524C>T	NP_542379.1:p.Ala175Val
NM_080649.3:c.524C>T	NP_542380.1:p.Ala175Val