Canonical Allele Identifier: CA7081627

Gene: APEX1

Linked Data

• dbSNP Id: rs746944921
• ExAC: 14:20925381 A / G
• gnomAD v2: 14-20925381-A-G
• gnomAD v3: 14-20457222-A-G
• gnomAD v4: 14-20457222-A-G
• MyVariant Identifiers: chr14:g.20925381A>G (hg19) ; chr14:g.20457222A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20457222A>G , CM000676.2:g.20457222A>G	GRCh38
NC_000014.8:g.20925381A>G , CM000676.1:g.20925381A>G	GRCh37
NC_000014.7:g.19995221A>G	NCBI36
NG_008718.1:g.7092A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216714.8:c.671A>G MANE Select	ENSP00000216714.3:p.Lys224Arg
ENST00000216714.7:c.671A>G	ENSP00000216714.3:p.Lys224Arg
ENST00000398030.8:c.671A>G	ENSP00000381111.4:p.Lys224Arg
ENST00000438886.1:c.451A>G
ENST00000553555.5:n.1091A>G
ENST00000553681.5:c.671A>G	ENSP00000451327.1:p.Lys224Arg
ENST00000555414.5:c.671A>G	ENSP00000451979.1:p.Lys224Arg
ENST00000555839.5:c.584A>G	ENSP00000452460.1:p.Lys195Arg
ENST00000557054.1:c.*82A>G	ENSP00000452212.2:n.*82A>G
ENST00000557159.5:n.1287A>G
ENST00000557365.1:n.751A>G
NM_001244249.1:c.671A>G	NP_001231178.1:p.Lys224Arg
NM_001641.3:c.671A>G	NP_001632.2:p.Lys224Arg
NM_080648.2:c.671A>G	NP_542379.1:p.Lys224Arg
NM_080649.2:c.671A>G	NP_542380.1:p.Lys224Arg
XM_005267581.3:c.671A>G	XP_005267638.1:p.Lys224Arg
XM_005267582.3:c.620A>G	XP_005267639.1:p.Lys207Arg
NM_001641.4:c.671A>G MANE Select	NP_001632.2:p.Lys224Arg
NM_001244249.2:c.671A>G	NP_001231178.1:p.Lys224Arg
NM_080648.3:c.671A>G	NP_542379.1:p.Lys224Arg
NM_080649.3:c.671A>G	NP_542380.1:p.Lys224Arg