Canonical Allele Identifier: CA389129553

Gene: APEX1

Linked Data

• dbSNP Id: rs1180719388
• gnomAD v2: 14-20924239-G-T
• gnomAD v3: 14-20456080-G-T
• gnomAD v4: 14-20456080-G-T
• MyVariant Identifiers: chr14:g.20924239G>T (hg19) ; chr14:g.20456080G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20456080G>T , CM000676.2:g.20456080G>T	GRCh38
NC_000014.8:g.20924239G>T , CM000676.1:g.20924239G>T	GRCh37
NC_000014.7:g.19994079G>T	NCBI36
NG_008718.1:g.5950G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216714.8:c.225G>T MANE Select	ENSP00000216714.3:p.Trp75Cys
ENST00000216714.7:c.225G>T	ENSP00000216714.3:p.Trp75Cys
ENST00000398030.8:c.225G>T	ENSP00000381111.4:p.Trp75Cys
ENST00000438886.1:c.74G>T
ENST00000553555.5:n.645G>T
ENST00000553681.5:c.225G>T	ENSP00000451327.1:p.Trp75Cys
ENST00000554325.1:c.*145G>T	ENSP00000450604.1:n.*145G>T
ENST00000554813.5:n.291G>T
ENST00000555306.5:n.672G>T
ENST00000555414.5:c.225G>T	ENSP00000451979.1:p.Trp75Cys
ENST00000555839.5:c.225G>T	ENSP00000452460.1:p.Trp75Cys
ENST00000556054.5:c.225G>T	ENSP00000451170.1:p.Trp75Cys
ENST00000557054.1:c.27+408G>T	ENSP00000452212.2:n.27+408G>T
ENST00000557150.5:c.174G>T	ENSP00000452418.1:p.Trp58Cys
ENST00000557159.5:n.841G>T
ENST00000557181.5:c.225G>T	ENSP00000452304.1:p.Trp75Cys
ENST00000557344.5:c.225G>T	ENSP00000452137.1:p.Trp75Cys
ENST00000557365.1:n.305G>T
ENST00000557592.5:c.174G>T	ENSP00000451060.1:p.Trp58Cys
NM_001244249.1:c.225G>T	NP_001231178.1:p.Trp75Cys
NM_001641.3:c.225G>T	NP_001632.2:p.Trp75Cys
NM_080648.2:c.225G>T	NP_542379.1:p.Trp75Cys
NM_080649.2:c.225G>T	NP_542380.1:p.Trp75Cys
XM_005267581.3:c.225G>T	XP_005267638.1:p.Trp75Cys
XM_005267582.3:c.174G>T	XP_005267639.1:p.Trp58Cys
NM_001641.4:c.225G>T MANE Select	NP_001632.2:p.Trp75Cys
NM_001244249.2:c.225G>T	NP_001231178.1:p.Trp75Cys
NM_080648.3:c.225G>T	NP_542379.1:p.Trp75Cys
NM_080649.3:c.225G>T	NP_542380.1:p.Trp75Cys