Canonical Allele Identifier: CA389132893
Gene: APEX1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.20457232A>C , CM000676.2:g.20457232A>C GRCh38
NC_000014.8:g.20925391A>C , CM000676.1:g.20925391A>C GRCh37
NC_000014.7:g.19995231A>C NCBI36
NG_008718.1:g.7102A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000216714.8:c.681A>C MANE Select ENSP00000216714.3:p.Lys227Asn
ENST00000216714.7:c.681A>C ENSP00000216714.3:p.Lys227Asn
ENST00000398030.8:c.681A>C ENSP00000381111.4:p.Lys227Asn
ENST00000553555.5:n.1101A>C
ENST00000553681.5:c.681A>C ENSP00000451327.1:p.Lys227Asn
ENST00000555414.5:c.681A>C ENSP00000451979.1:p.Lys227Asn
ENST00000555839.5:c.594A>C ENSP00000452460.1:p.Lys198Asn
ENST00000557054.1:c.*92A>C ENSP00000452212.2:n.*92A>C
ENST00000557159.5:n.1297A>C
ENST00000557365.1:n.761A>C
NM_001244249.1:c.681A>C NP_001231178.1:p.Lys227Asn
NM_001641.3:c.681A>C NP_001632.2:p.Lys227Asn
NM_080648.2:c.681A>C NP_542379.1:p.Lys227Asn
NM_080649.2:c.681A>C NP_542380.1:p.Lys227Asn
XM_005267581.3:c.681A>C XP_005267638.1:p.Lys227Asn
XM_005267582.3:c.630A>C XP_005267639.1:p.Lys210Asn
NM_001641.4:c.681A>C MANE Select NP_001632.2:p.Lys227Asn
NM_001244249.2:c.681A>C NP_001231178.1:p.Lys227Asn
NM_080648.3:c.681A>C NP_542379.1:p.Lys227Asn
NM_080649.3:c.681A>C NP_542380.1:p.Lys227Asn