Canonical Allele Identifier: CA7081637

Gene: APEX1

Linked Data

• dbSNP Id: rs375526265
• ExAC: 14:20925419 C / T
• gnomAD v2: 14-20925419-C-T
• gnomAD v3: 14-20457260-C-T
• gnomAD v4: 14-20457260-C-T
• MyVariant Identifiers: chr14:g.20925419C>T (hg19) ; chr14:g.20457260C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20457260C>T , CM000676.2:g.20457260C>T	GRCh38
NC_000014.8:g.20925419C>T , CM000676.1:g.20925419C>T	GRCh37
NC_000014.7:g.19995259C>T	NCBI36
NG_008718.1:g.7130C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216714.8:c.709C>T MANE Select	ENSP00000216714.3:p.Arg237Cys
ENST00000216714.7:c.709C>T	ENSP00000216714.3:p.Arg237Cys
ENST00000398030.8:c.709C>T	ENSP00000381111.4:p.Arg237Cys
ENST00000553555.5:n.1129C>T
ENST00000553681.5:c.709C>T	ENSP00000451327.1:p.Arg237Cys
ENST00000555414.5:c.709C>T	ENSP00000451979.1:p.Arg237Cys
ENST00000555839.5:c.622C>T	ENSP00000452460.1:p.Arg208Cys
ENST00000557054.1:c.*120C>T	ENSP00000452212.2:n.*120C>T
ENST00000557159.5:n.1325C>T
ENST00000557365.1:n.789C>T
NM_001244249.1:c.709C>T	NP_001231178.1:p.Arg237Cys
NM_001641.3:c.709C>T	NP_001632.2:p.Arg237Cys
NM_080648.2:c.709C>T	NP_542379.1:p.Arg237Cys
NM_080649.2:c.709C>T	NP_542380.1:p.Arg237Cys
XM_005267581.3:c.709C>T	XP_005267638.1:p.Arg237Cys
XM_005267582.3:c.658C>T	XP_005267639.1:p.Arg220Cys
NM_001641.4:c.709C>T MANE Select	NP_001632.2:p.Arg237Cys
NM_001244249.2:c.709C>T	NP_001231178.1:p.Arg237Cys
NM_080648.3:c.709C>T	NP_542379.1:p.Arg237Cys
NM_080649.3:c.709C>T	NP_542380.1:p.Arg237Cys