Canonical Allele Identifier: CA389131159

Gene: APEX1

Linked Data

• dbSNP Id: rs1881396807
• MyVariant Identifiers: chr14:g.20925011A>G (hg19) ; chr14:g.20456852A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20456852A>G , CM000676.2:g.20456852A>G	GRCh38
NC_000014.8:g.20925011A>G , CM000676.1:g.20925011A>G	GRCh37
NC_000014.7:g.19994851A>G	NCBI36
NG_008718.1:g.6722A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216714.8:c.431A>G MANE Select	ENSP00000216714.3:p.Tyr144Cys
ENST00000216714.7:c.431A>G	ENSP00000216714.3:p.Tyr144Cys
ENST00000398030.8:c.431A>G	ENSP00000381111.4:p.Tyr144Cys
ENST00000438886.1:c.280A>G
ENST00000553555.5:n.851A>G
ENST00000553681.5:c.431A>G	ENSP00000451327.1:p.Tyr144Cys
ENST00000554813.5:n.497A>G
ENST00000555306.5:n.878A>G
ENST00000555414.5:c.431A>G	ENSP00000451979.1:p.Tyr144Cys
ENST00000555839.5:c.431A>G	ENSP00000452460.1:p.Tyr144Cys
ENST00000556054.5:c.431A>G	ENSP00000451170.1:p.Tyr144Cys
ENST00000557054.1:c.28-271A>G	ENSP00000452212.2:n.28-271A>G
ENST00000557150.5:c.380A>G	ENSP00000452418.1:p.Tyr127Cys
ENST00000557159.5:n.1047A>G
ENST00000557344.5:c.431A>G	ENSP00000452137.1:p.Tyr144Cys
ENST00000557365.1:n.511A>G
ENST00000557592.5:c.380A>G	ENSP00000451060.1:p.Tyr127Cys
NM_001244249.1:c.431A>G	NP_001231178.1:p.Tyr144Cys
NM_001641.3:c.431A>G	NP_001632.2:p.Tyr144Cys
NM_080648.2:c.431A>G	NP_542379.1:p.Tyr144Cys
NM_080649.2:c.431A>G	NP_542380.1:p.Tyr144Cys
XM_005267581.3:c.431A>G	XP_005267638.1:p.Tyr144Cys
XM_005267582.3:c.380A>G	XP_005267639.1:p.Tyr127Cys
NM_001641.4:c.431A>G MANE Select	NP_001632.2:p.Tyr144Cys
NM_001244249.2:c.431A>G	NP_001231178.1:p.Tyr144Cys
NM_080648.3:c.431A>G	NP_542379.1:p.Tyr144Cys
NM_080649.3:c.431A>G	NP_542380.1:p.Tyr144Cys