Canonical Allele Identifier: CA389133170
Gene: APEX1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.20457264A>G , CM000676.2:g.20457264A>G GRCh38
NC_000014.8:g.20925423A>G , CM000676.1:g.20925423A>G GRCh37
NC_000014.7:g.19995263A>G NCBI36
NG_008718.1:g.7134A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000216714.8:c.713A>G MANE Select ENSP00000216714.3:p.Gln238Arg
ENST00000216714.7:c.713A>G ENSP00000216714.3:p.Gln238Arg
ENST00000398030.8:c.713A>G ENSP00000381111.4:p.Gln238Arg
ENST00000553555.5:n.1133A>G
ENST00000553681.5:c.713A>G ENSP00000451327.1:p.Gln238Arg
ENST00000555414.5:c.713A>G ENSP00000451979.1:p.Gln238Arg
ENST00000555839.5:c.626A>G ENSP00000452460.1:p.Gln209Arg
ENST00000557054.1:c.*124A>G ENSP00000452212.2:n.*124A>G
ENST00000557159.5:n.1329A>G
ENST00000557365.1:n.793A>G
NM_001244249.1:c.713A>G NP_001231178.1:p.Gln238Arg
NM_001641.3:c.713A>G NP_001632.2:p.Gln238Arg
NM_080648.2:c.713A>G NP_542379.1:p.Gln238Arg
NM_080649.2:c.713A>G NP_542380.1:p.Gln238Arg
XM_005267581.3:c.713A>G XP_005267638.1:p.Gln238Arg
XM_005267582.3:c.662A>G XP_005267639.1:p.Gln221Arg
NM_001641.4:c.713A>G MANE Select NP_001632.2:p.Gln238Arg
NM_001244249.2:c.713A>G NP_001231178.1:p.Gln238Arg
NM_080648.3:c.713A>G NP_542379.1:p.Gln238Arg
NM_080649.3:c.713A>G NP_542380.1:p.Gln238Arg