Canonical Allele Identifier: CA7081683
Gene: APEX1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.20457510A>T , CM000676.2:g.20457510A>T GRCh38
NC_000014.8:g.20925669A>T , CM000676.1:g.20925669A>T GRCh37
NC_000014.7:g.19995509A>T NCBI36
NG_008718.1:g.7380A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000216714.8:c.*2A>T MANE Select ENSP00000216714.3:n.*2A>T
ENST00000216714.7:c.*2A>T ENSP00000216714.3:n.*2A>T
ENST00000398030.8:c.*2A>T ENSP00000381111.4:n.*2A>T
ENST00000553555.5:n.1379A>T
ENST00000555414.5:c.*2A>T ENSP00000451979.1:n.*2A>T
ENST00000557054.1:c.*370A>T ENSP00000452212.2:n.*370A>T
ENST00000557159.5:n.1575A>T
NM_001244249.1:c.*2A>T NP_001231178.1:n.*2A>T
NM_001641.3:c.*2A>T NP_001632.2:n.*2A>T
NM_080648.2:c.*2A>T NP_542379.1:n.*2A>T
NM_080649.2:c.*2A>T NP_542380.1:n.*2A>T
XM_005267581.3:c.*2A>T XP_005267638.1:n.*2A>T
XM_005267582.3:c.*2A>T XP_005267639.1:n.*2A>T
NM_001641.4:c.*2A>T MANE Select NP_001632.2:n.*2A>T
NM_001244249.2:c.*2A>T NP_001231178.1:n.*2A>T
NM_080648.3:c.*2A>T NP_542379.1:n.*2A>T
NM_080649.3:c.*2A>T NP_542380.1:n.*2A>T
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