Canonical Allele Identifier: CA257407760
Gene: APEX1 HGNC NCBI

Linked Data

dbSNP Id: rs754130481

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.20457093G>A , CM000676.2:g.20457093G>A GRCh38
NC_000014.8:g.20925252G>A , CM000676.1:g.20925252G>A GRCh37
NC_000014.7:g.19995092G>A NCBI36
NG_008718.1:g.6963G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000216714.8:c.542G>A MANE Select ENSP00000216714.3:p.Arg181Gln
ENST00000216714.7:c.542G>A ENSP00000216714.3:p.Arg181Gln
ENST00000398030.8:c.542G>A ENSP00000381111.4:p.Arg181Gln
ENST00000438886.1:c.322G>A
ENST00000553555.5:n.962G>A
ENST00000553681.5:c.542G>A ENSP00000451327.1:p.Arg181Gln
ENST00000554813.5:n.608G>A
ENST00000555414.5:c.542G>A ENSP00000451979.1:p.Arg181Gln
ENST00000555839.5:c.455G>A ENSP00000452460.1:p.Arg152Gln
ENST00000557054.1:c.28-30G>A ENSP00000452212.2:n.28-30G>A
ENST00000557159.5:n.1158G>A
ENST00000557365.1:n.622G>A
ENST00000557592.5:c.491G>A ENSP00000451060.1:p.Arg164Gln
NM_001244249.1:c.542G>A NP_001231178.1:p.Arg181Gln
NM_001641.3:c.542G>A NP_001632.2:p.Arg181Gln
NM_080648.2:c.542G>A NP_542379.1:p.Arg181Gln
NM_080649.2:c.542G>A NP_542380.1:p.Arg181Gln
XM_005267581.3:c.542G>A XP_005267638.1:p.Arg181Gln
XM_005267582.3:c.491G>A XP_005267639.1:p.Arg164Gln
NM_001641.4:c.542G>A MANE Select NP_001632.2:p.Arg181Gln
NM_001244249.2:c.542G>A NP_001231178.1:p.Arg181Gln
NM_080648.3:c.542G>A NP_542379.1:p.Arg181Gln
NM_080649.3:c.542G>A NP_542380.1:p.Arg181Gln